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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   EPS8_chr12_15615134_15794388  EPS8_chr12_15615134_15794388 (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 2059
ensemblid ENSG00000151491.14
hgncid 3420
symbol EPS8
name epidermal growth factor receptor pathway substrate 8
refseq_nuc NM_004447.6
refseq_prot NP_004438.3
ensembl_nuc ENST00000281172.10
ensembl_prot ENSP00000281172.5
mane_status MANE Select
chr chr12
start 15620134
end 15789388
strand -
ver v1.2
region chr12:15620134-15789388
region5000 chr12:15615134-15794388
regionname0 EPS8_chr12_15620134_15789388
regionname5000 EPS8_chr12_15615134_15794388

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 822 95 58 15 16 0 4 11 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0002 0/0 822 4 2 0 2 0 0 1 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0003 0/0 822 2 0 0 2 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0004 0/0 822 1 0 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 2469 51 20 12 14 0 3 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
c0002 0/0 2469 34 29 3 2 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
c0003 0/0 2469 5 5 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
c0004 0/0 2469 4 2 0 2 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
c0005 0/0 2469 2 2 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
c0006 0/0 2469 2 0 0 2 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
c0007 0/0 2469 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
c0008 0/0 2469 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
c0009 0/0 2469 1 0 0 0 0 1 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
c0010 0/0 2469 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 1434 76 40 13 19 0 4 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
t0002 0/0 1434 5 5 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
t0003 0/0 1434 4 3 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
t0004 0/0 1434 4 4 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
t0005 0/0 1434 3 3 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
t0006 0/0 1434 2 2 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
t0007 0/1 1434 2 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
t0008 0/0 1434 2 1 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
t0009 0/0 1434 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
t0010 0/0 1433 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
t0011 1/0 1433 1 0 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
t0012 0/0 1433 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0002 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0003 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0004 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0005 0/0 1 0 0 0 0 1 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0006 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0007 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0008 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0009 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0010 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0011 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0012 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0013 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0014 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0015 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0016 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0017 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0018 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0019 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0020 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0021 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0022 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0023 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0024 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0025 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0026 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0027 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0028 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0029 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0030 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0031 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0032 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0033 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0034 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0035 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0036 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0037 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0038 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0039 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0040 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0041 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0042 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0043 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0044 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0045 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0046 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0047 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0048 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0049 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0050 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0051 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0052 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0053 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0054 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0055 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0056 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0057 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0058 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0059 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0060 1/0 1 0 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0061 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0062 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0063 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0064 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0065 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0066 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0067 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0068 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0069 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0070 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0071 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0072 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0073 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0074 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0075 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0076 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0077 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0078 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0079 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0080 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0081 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0082 0/0 1 0 0 0 0 1 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0083 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0084 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0085 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0086 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0087 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0088 0/0 1 0 0 0 0 1 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0089 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0090 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0091 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0092 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0093 0/1 1 0 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0094 0/0 1 0 0 0 0 1 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0095 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0096 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0097 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0098 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0099 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0100 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0101 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
g0102 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/1 2469 51 20 12 14 0 3 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0001c0002 0/0 2469 34 29 3 2 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0001c0003 0/0 2469 5 5 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0001c0005 0/0 2469 2 2 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0001c0007 0/0 2469 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0001c0009 0/0 2469 1 0 0 0 0 1 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0001c0010 0/0 2469 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0002c0004 0/0 2469 4 2 0 2 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0003c0006 0/0 2469 2 0 0 2 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0004c0008 0/0 2469 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 3902 40 13 11 13 0 3 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0001c0001t0002 0/0 3902 5 5 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0001c0001t0003 0/0 3902 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0001c0001t0007 0/1 3902 2 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0001c0001t0009 0/0 3902 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0001c0001t0010 0/0 3901 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0001c0001t0011 1/0 3901 1 0 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0001c0002t0001 0/0 3902 28 25 1 2 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0001c0002t0003 0/0 3902 3 2 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0001c0002t0005 0/0 3902 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0001c0002t0008 0/0 3902 2 1 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0001c0003t0004 0/0 3902 3 3 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0001c0003t0006 0/0 3902 2 2 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0001c0005t0005 0/0 3902 2 2 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0001c0007t0012 0/0 3901 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0001c0009t0001 0/0 3902 1 0 0 0 0 1 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0001c0010t0004 0/0 3902 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0002c0004t0001 0/0 3902 4 2 0 2 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0003c0006t0001 0/0 3902 2 0 0 2 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388
a0004c0008t0001 0/0 3902 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 copy fasta chr12 15615134 15794388

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0005 0/0 1 0 0 0 0 1 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0011 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0016 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0017 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0018 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0019 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0020 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0021 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0024 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0025 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0027 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0029 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0036 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0038 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0041 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0042 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0045 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0052 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0056 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0058 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0059 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0064 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0067 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0068 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0082 0/0 1 0 0 0 0 1 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0083 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0085 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0086 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0087 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0089 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0090 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0092 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0094 0/0 1 0 0 0 0 1 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0095 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0096 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0097 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0099 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0100 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0101 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0001g0102 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0002g0009 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0002g0012 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0002g0013 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0002g0022 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0002g0026 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0003g0004 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0007g0084 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0007g0093 0/1 1 0 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0009g0057 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0010g0049 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0001t0011g0060 1/0 1 0 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0006 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0008 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0010 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0032 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0034 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0035 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0037 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0040 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0047 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0048 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0050 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0053 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0054 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0055 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0061 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0063 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0065 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0069 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0070 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0071 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0072 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0073 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0074 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0075 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0076 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0077 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0078 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0001g0080 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0003g0001 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0003g0002 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0003g0003 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0005g0014 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0008g0023 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0002t0008g0051 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0003t0004g0030 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0003t0004g0031 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0003t0004g0039 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0003t0006g0044 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0003t0006g0066 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0005t0005g0033 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0005t0005g0043 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0007t0012g0015 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0009t0001g0088 0/0 1 0 0 0 0 1 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0001c0010t0004g0007 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0002c0004t0001g0062 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0002c0004t0001g0079 0/0 1 1 0 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0002c0004t0001g0081 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0002c0004t0001g0098 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0003c0006t0001g0046 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0003c0006t0001g0091 0/0 1 0 0 1 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
a0004c0008t0001g0028 0/0 1 0 1 0 0 0 EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00597 hp1 a0001 c0001 t0001 g0090 EAS CHS EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG00597 hp2 a0001 c0001 t0001 g0025 EAS CHS EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG00621 hp1 a0003 c0006 t0001 g0091 EAS CHS EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG00621 hp2 a0003 c0006 t0001 g0046 EAS CHS EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG00733 hp1 a0001 c0002 t0008 g0051 AMR PUR EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG00733 hp2 a0001 c0001 t0001 g0024 AMR PUR EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG00738 hp1 a0004 c0008 t0001 g0028 AMR PUR EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG00738 hp2 a0001 c0001 t0001 g0089 AMR PUR EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG01071 hp1 a0001 c0001 t0001 g0029 AMR PUR EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG01071 hp2 a0001 c0001 t0001 g0064 AMR PUR EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG01109 hp1 a0001 c0002 t0003 g0001 AMR PUR EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG01109 hp2 a0001 c0002 t0001 g0008 AMR PUR EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG01243 hp1 a0001 c0001 t0007 g0084 AMR PUR EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG01243 hp2 a0001 c0001 t0001 g0016 AMR PUR EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG01256 hp1 a0001 c0001 t0001 g0095 AMR CLM EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG01256 hp2 a0001 c0001 t0001 g0021 AMR CLM EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG01261 hp1 a0001 c0001 t0001 g0097 AMR CLM EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG01261 hp2 a0001 c0001 t0001 g0020 AMR CLM EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG01884 hp1 a0001 c0001 t0002 g0022 AFR ACB EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG01884 hp2 a0001 c0002 t0001 g0053 AFR ACB EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG01891 hp1 a0001 c0001 t0002 g0009 AFR ACB EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG01891 hp2 a0001 c0001 t0001 g0027 AFR ACB EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02055 hp1 a0001 c0002 t0003 g0003 AFR ACB EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02055 hp2 a0001 c0002 t0001 g0073 AFR ACB EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02132 hp1 a0001 c0001 t0001 g0056 EAS KHV EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02132 hp2 a0001 c0001 t0001 g0100 EAS KHV EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02145 hp1 a0001 c0002 t0001 g0070 AFR ACB EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02145 hp2 a0001 c0001 t0001 g0038 AFR ACB EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02258 hp1 a0001 c0001 t0002 g0026 AFR ACB EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02258 hp2 a0001 c0001 t0009 g0057 AFR ACB EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02300 hp1 a0001 c0001 t0001 g0086 AMR PEL EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02300 hp2 a0001 c0001 t0001 g0059 AMR PEL EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02451 hp1 a0001 c0005 t0005 g0033 AFR ACB EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02451 hp2 a0001 c0002 t0001 g0035 AFR ACB EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02523 hp1 a0002 c0004 t0001 g0098 EAS KHV EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02523 hp2 a0001 c0001 t0001 g0092 EAS KHV EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02622 hp1 a0001 c0001 t0001 g0019 AFR GWD EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02622 hp2 a0001 c0003 t0004 g0030 AFR GWD EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02630 hp1 a0001 c0005 t0005 g0043 AFR GWD EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02630 hp2 a0002 c0004 t0001 g0079 AFR GWD EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02717 hp1 a0001 c0002 t0001 g0078 AFR GWD EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02717 hp2 a0001 c0001 t0001 g0018 AFR GWD EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02818 hp1 a0001 c0007 t0012 g0015 AFR GWD EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02818 hp2 a0001 c0002 t0001 g0055 AFR GWD EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02886 hp1 a0001 c0001 t0002 g0013 AFR GWD EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02886 hp2 a0001 c0002 t0001 g0063 AFR GWD EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02922 hp1 a0001 c0002 t0001 g0006 AFR ESN EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02922 hp2 a0001 c0002 t0001 g0061 AFR ESN EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02965 hp1 a0001 c0001 t0001 g0036 AFR ESN EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02965 hp2 a0001 c0002 t0001 g0071 AFR ESN EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02976 hp1 a0001 c0002 t0001 g0050 AFR ESN EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02976 hp2 a0001 c0002 t0001 g0040 AFR ESN EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG03017 hp1 a0001 c0009 t0001 g0088 SAS PJL EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG03017 hp2 a0001 c0001 t0001 g0082 SAS PJL EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG03041 hp1 a0001 c0002 t0008 g0023 AFR GWD EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG03041 hp2 a0002 c0004 t0001 g0062 AFR GWD EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG03098 hp1 a0001 c0001 t0002 g0012 AFR MSL EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG03098 hp2 a0001 c0002 t0001 g0080 AFR MSL EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG03130 hp1 a0001 c0002 t0001 g0010 AFR ESN EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG03130 hp2 a0001 c0003 t0004 g0031 AFR ESN EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG03139 hp1 a0001 c0002 t0005 g0014 AFR ESN EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG03139 hp2 a0001 c0002 t0001 g0074 AFR ESN EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG03486 hp1 a0001 c0002 t0001 g0032 AFR MSL EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG03486 hp2 a0001 c0002 t0001 g0037 AFR MSL EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG03516 hp1 a0001 c0002 t0001 g0072 AFR ESN EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG03516 hp2 a0001 c0001 t0001 g0067 AFR ESN EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG03579 hp1 a0001 c0002 t0001 g0076 AFR MSL EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG03579 hp2 a0001 c0001 t0001 g0087 AFR MSL EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG03831 hp1 a0001 c0001 t0001 g0094 SAS BEB EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG03831 hp2 a0001 c0001 t0001 g0005 SAS BEB EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
NA18906 hp1 a0001 c0001 t0003 g0004 AFR YRI EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
NA18906 hp2 a0001 c0001 t0001 g0058 AFR YRI EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
NA18944 hp1 a0002 c0004 t0001 g0081 EAS JPT EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
NA18944 hp2 a0001 c0001 t0001 g0099 EAS JPT EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
NA18978 hp1 a0001 c0001 t0001 g0045 EAS JPT EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
NA18978 hp2 a0001 c0001 t0001 g0101 EAS JPT EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
NA19009 hp1 a0001 c0001 t0001 g0042 EAS JPT EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
NA19009 hp2 a0001 c0001 t0010 g0049 EAS JPT EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
NA19030 hp1 a0001 c0002 t0001 g0069 AFR LWK EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
NA19030 hp2 a0001 c0003 t0006 g0066 AFR LWK EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
NA19043 hp1 a0001 c0001 t0001 g0017 AFR LWK EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
NA19043 hp2 a0001 c0002 t0001 g0054 AFR LWK EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
NA19062 hp1 a0001 c0002 t0001 g0047 EAS JPT EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
NA19062 hp2 a0001 c0001 t0001 g0083 EAS JPT EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
NA19063 hp1 a0001 c0001 t0001 g0102 EAS JPT EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
NA19063 hp2 a0001 c0001 t0001 g0041 EAS JPT EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
NA19087 hp1 a0001 c0002 t0001 g0065 EAS JPT EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
NA19087 hp2 a0001 c0001 t0001 g0096 EAS JPT EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
NA19240 hp1 a0001 c0002 t0001 g0034 AFR YRI EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
NA19240 hp2 a0001 c0002 t0003 g0002 AFR YRI EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02109 hp1 a0001 c0002 t0001 g0075 AFR ACB EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02109 hp2 a0001 c0003 t0004 g0039 AFR ACB EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02559 hp1 a0001 c0001 t0001 g0068 AFR ACB EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG02559 hp2 a0001 c0002 t0001 g0048 AFR ACB EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG03471 hp1 a0001 c0001 t0001 g0011 AFR MSL EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG03471 hp2 a0001 c0010 t0004 g0007 AFR MSL EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG06807 hp1 a0001 c0001 t0001 g0085 AFR USA EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
HG06807 hp2 a0001 c0003 t0006 g0044 AFR USA EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
NA20300 hp1 a0001 c0002 t0001 g0077 AFR USA EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
NA20300 hp2 a0001 c0001 t0001 g0052 AFR USA EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
homoSapiens_chm13v2 hp1 a0001 c0001 t0007 g0093 REF REF EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388
homoSapiens_grch38 hp1 a0001 c0001 t0011 g0060 REF REF EPS8_chr12_15615134_15794388 EPS8 chr12 15615134 15794388

chr:pos ref alt #
# of ahapid:amino-acid(protein) level
 ahapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr12:15623283 C
C
 T
T
 1 a0004
a0004
 1 HG00738.hp1
HG00738.hp1
 missense_variant MODERATE c.2230G>A
c.2230G>A
 p.Val744Ile
p.Val744Ile
 EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 20/21 2479/3901 2230/2469 744/822 chr12 15623283
chr12:15647140 G
G
 A
A
 1 a0002
a0002
 4 HG02523.hp1
HG02630.hp2
HG03041.hp2
others(1): Show 
HG02523.hp1
HG02630.hp2
HG03041.hp2
NA18944.hp1
 missense_variant MODERATE c.1555C>T
c.1555C>T
 p.Arg519Cys
p.Arg519Cys
 EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/21 1804/3901 1555/2469 519/822 chr12 15647140
chr12:15682933 T
T
 C
C
 1 a0003
a0003
 2 HG00621.hp1
HG00621.hp2
HG00621.hp1
HG00621.hp2
 missense_variant MODERATE c.19A>G
c.19A>G
 p.Asn7Asp
p.Asn7Asp
 EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 2/21 268/3901 19/2469 7/822 chr12 15682933

chr:pos ref alt #
# of chapid
 chapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr12:15623161 C
C
 T
T
 4 a0001c0002
a0001c0003
a0001c0005
others(1): Show 
a0001c0002
a0001c0003
a0001c0005
a0001c0010
 42 HG00733.hp1
HG01109.hp1
HG01109.hp2
others(39): Show 
HG00733.hp1
HG01109.hp1
HG01109.hp2
HG01884.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19062.hp1
NA19087.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
 synonymous_variant LOW c.2352G>A
c.2352G>A
 p.Leu784Leu
p.Leu784Leu
 EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 20/21 2601/3901 2352/2469 784/822 chr12 15623161
chr12:15624244 T
T
 C
C
 1 a0001c0009
a0001c0009
 1 HG03017.hp1
HG03017.hp1
 synonymous_variant LOW c.2208A>G
c.2208A>G
 p.Ser736Ser
p.Ser736Ser
 EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 19/21 2457/3901 2208/2469 736/822 chr12 15624244
chr12:15624379 T
T
 C
C
 2 a0001c0003
a0001c0010
a0001c0003
a0001c0010
 6 HG02109.hp2
HG02622.hp2
HG03130.hp2
others(3): Show 
HG02109.hp2
HG02622.hp2
HG03130.hp2
HG03471.hp2
HG06807.hp2
NA19030.hp2
 synonymous_variant LOW c.2073A>G
c.2073A>G
 p.Gln691Gln
p.Gln691Gln
 EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 19/21 2322/3901 2073/2469 691/822 chr12 15624379
chr12:15650970 A
A
 G
G
 1 a0002c0004
a0002c0004
 4 HG02523.hp1
HG02630.hp2
HG03041.hp2
others(1): Show 
HG02523.hp1
HG02630.hp2
HG03041.hp2
NA18944.hp1
 synonymous_variant LOW c.1287T>C
c.1287T>C
 p.Tyr429Tyr
p.Tyr429Tyr
 EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 14/21 1536/3901 1287/2469 429/822 chr12 15650970
chr12:15660726 G
G
 A
A
 1 a0001c0010
a0001c0010
 1 HG03471.hp2
HG03471.hp2
 synonymous_variant LOW c.825C>T
c.825C>T
 p.His275His
p.His275His
 EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 10/21 1074/3901 825/2469 275/822 chr12 15660726
chr12:15669817 A
A
 G
G
 2 a0001c0005
a0001c0007
a0001c0005
a0001c0007
 3 HG02451.hp1
HG02630.hp1
HG02818.hp1
HG02451.hp1
HG02630.hp1
HG02818.hp1
 synonymous_variant LOW c.213T>C
c.213T>C
 p.Thr71Thr
p.Thr71Thr
 EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 5/21 462/3901 213/2469 71/822 chr12 15669817

chr:pos ref alt #
# of thapid:transcript level
 thapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr12:15620486 T
T
 C
C
 1 a0001c0007t0012
a0001c0007t0012
 1 HG02818.hp1
HG02818.hp1
 3_prime_UTR_variant MODIFIER c.*831A>G
c.*831A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 21/21 831 chr12 15620486
chr12:15620487 T
T
 C
C
 1 a0001c0001t0007
a0001c0001t0007
 2 HG01243.hp1
homoSapiens_chm13v2.hp1
HG01243.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*830A>G
c.*830A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 21/21 830 chr12 15620487
chr12:15620543 T
T
 C
C
 2 a0001c0002t0005
a0001c0005t0005
a0001c0002t0005
a0001c0005t0005
 3 HG02451.hp1
HG02630.hp1
HG03139.hp1
HG02451.hp1
HG02630.hp1
HG03139.hp1
 3_prime_UTR_variant MODIFIER c.*774A>G
c.*774A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 21/21 774 chr12 15620543
chr12:15620605 G
G
 C
C
 3 a0001c0003t0004
a0001c0003t0006
a0001c0010t0004
a0001c0003t0004
a0001c0003t0006
a0001c0010t0004
 6 HG02109.hp2
HG02622.hp2
HG03130.hp2
others(3): Show 
HG02109.hp2
HG02622.hp2
HG03130.hp2
HG03471.hp2
HG06807.hp2
NA19030.hp2
 3_prime_UTR_variant MODIFIER c.*712C>G
c.*712C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 21/21 712 chr12 15620605
chr12:15620684 A
A
 G
G
 1 a0001c0003t0006
a0001c0003t0006
 2 HG06807.hp2
NA19030.hp2
HG06807.hp2
NA19030.hp2
 3_prime_UTR_variant MODIFIER c.*633T>C
c.*633T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 21/21 633 chr12 15620684
chr12:15620716 T
T
 C
C
 1 a0001c0001t0009
a0001c0001t0009
 1 HG02258.hp2
HG02258.hp2
 3_prime_UTR_variant MODIFIER c.*601A>G
c.*601A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 21/21 601 chr12 15620716
chr12:15620717 C
C
 G
G
 18 a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
others(15): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
a0001c0001t0007
a0001c0001t0009
a0001c0001t0010
a0001c0002t0001
a0001c0002t0003
a0001c0002t0005
a0001c0002t0008
a0001c0003t0004
a0001c0003t0006
a0001c0005t0005
a0001c0009t0001
a0001c0010t0004
a0002c0004t0001
a0003c0006t0001
a0004c0008t0001
 100 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(97): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*600G>C
c.*600G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 21/21 600 chr12 15620717
chr12:15620723 A
A
 T
T
 1 a0001c0002t0008
a0001c0002t0008
 2 HG00733.hp1
HG03041.hp1
HG00733.hp1
HG03041.hp1
 3_prime_UTR_variant MODIFIER c.*594T>A
c.*594T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 21/21 594 chr12 15620723
chr12:15620761 T
T
 C
C
 1 a0001c0002t0008
a0001c0002t0008
 2 HG00733.hp1
HG03041.hp1
HG00733.hp1
HG03041.hp1
 3_prime_UTR_variant MODIFIER c.*556A>G
c.*556A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 21/21 556 chr12 15620761
chr12:15620800 T
T
 C
C
 1 a0001c0001t0002
a0001c0001t0002
 5 HG01884.hp1
HG01891.hp1
HG02258.hp1
others(2): Show 
HG01884.hp1
HG01891.hp1
HG02258.hp1
HG02886.hp1
HG03098.hp1
 3_prime_UTR_variant MODIFIER c.*517A>G
c.*517A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 21/21 517 chr12 15620800
chr12:15621193 G
G
 GT
GT
 17 a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
others(14): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
a0001c0001t0007
a0001c0001t0009
a0001c0002t0001
a0001c0002t0003
a0001c0002t0005
a0001c0002t0008
a0001c0003t0004
a0001c0003t0006
a0001c0005t0005
a0001c0009t0001
a0001c0010t0004
a0002c0004t0001
a0003c0006t0001
a0004c0008t0001
 99 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(96): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*123dupA
c.*123dupA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 21/21 123 chr12 15621193
chr12:15621268 A
A
 G
G
 3 a0001c0003t0004
a0001c0003t0006
a0001c0010t0004
a0001c0003t0004
a0001c0003t0006
a0001c0010t0004
 6 HG02109.hp2
HG02622.hp2
HG03130.hp2
others(3): Show 
HG02109.hp2
HG02622.hp2
HG03130.hp2
HG03471.hp2
HG06807.hp2
NA19030.hp2
 3_prime_UTR_variant MODIFIER c.*49T>C
c.*49T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 21/21 49 chr12 15621268
chr12:15789315 C
C
 G
G
 2 a0001c0001t0003
a0001c0002t0003
a0001c0001t0003
a0001c0002t0003
 4 HG01109.hp1
HG02055.hp1
NA18906.hp1
others(1): Show 
HG01109.hp1
HG02055.hp1
NA18906.hp1
NA19240.hp2
 5_prime_UTR_variant MODIFIER c.-176G>C
c.-176G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/21 106364 chr12 15789315

chr:pos ref alt #
# of ghapid:genebody level
 ghapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid genebody_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr12:15621779 C
C
 A
A
 5 a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
others(2): Show 
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
 5 HG02109.hp2
HG02622.hp2
HG03130.hp2
others(2): Show 
HG02109.hp2
HG02622.hp2
HG03130.hp2
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.2356-349G>T
c.2356-349G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 20/20 chr12 15621779
chr12:15621948 A
A
 C
C
 1 a0001c0001t0003g0004
a0001c0001t0003g0004
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.2356-518T>G
c.2356-518T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 20/20 chr12 15621948
chr12:15622116 G
G
 A
A
 2 a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0025
a0001c0001t0001g0056
 2 HG00597.hp2
HG02132.hp1
HG00597.hp2
HG02132.hp1
 intron_variant MODIFIER c.2356-686C>T
c.2356-686C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 20/20 chr12 15622116
chr12:15622173 A
A
 C
C
 5 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
others(2): Show 
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
 5 HG01884.hp1
HG01891.hp1
HG02258.hp1
others(2): Show 
HG01884.hp1
HG01891.hp1
HG02258.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.2356-743T>G
c.2356-743T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 20/20 chr12 15622173
chr12:15622188 C
C
 T
T
 20 a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
others(17): Show 
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0076
a0001c0002t0001g0078
 20 HG01109.hp2
HG02055.hp2
HG02145.hp1
others(17): Show 
HG01109.hp2
HG02055.hp2
HG02145.hp1
HG02559.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp2
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA19043.hp2
NA19062.hp1
NA19087.hp1
NA19240.hp1
 intron_variant MODIFIER c.2356-758G>A
c.2356-758G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 20/20 chr12 15622188
chr12:15622297 C
C
 T
T
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.2355+861G>A
c.2355+861G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 20/20 chr12 15622297
chr12:15622579 A
A
 G
G
 1 a0001c0001t0002g0026
a0001c0001t0002g0026
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.2355+579T>C
c.2355+579T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 20/20 chr12 15622579
chr12:15622718 T
T
 C
C
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.2355+440A>G
c.2355+440A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 20/20 chr12 15622718
chr12:15622798 AT
AT
 A
A
 20 a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
others(17): Show 
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0076
a0001c0002t0001g0078
 20 HG01109.hp2
HG02055.hp2
HG02145.hp1
others(17): Show 
HG01109.hp2
HG02055.hp2
HG02145.hp1
HG02559.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp2
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA19043.hp2
NA19062.hp1
NA19087.hp1
NA19240.hp1
 intron_variant MODIFIER c.2355+359delA
c.2355+359delA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 20/20 chr12 15622798
chr12:15622825 C
C
 G
G
 20 a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
others(17): Show 
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0076
a0001c0002t0001g0078
 20 HG01109.hp2
HG02055.hp2
HG02145.hp1
others(17): Show 
HG01109.hp2
HG02055.hp2
HG02145.hp1
HG02559.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp2
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA19043.hp2
NA19062.hp1
NA19087.hp1
NA19240.hp1
 intron_variant MODIFIER c.2355+333G>C
c.2355+333G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 20/20 chr12 15622825
chr12:15622852 C
C
 A
A
 9 a0001c0001t0001g0005
a0001c0001t0001g0041
a0001c0001t0001g0052
others(6): Show 
a0001c0001t0001g0005
a0001c0001t0001g0041
a0001c0001t0001g0052
a0001c0001t0001g0083
a0001c0001t0001g0086
a0001c0001t0001g0089
a0001c0001t0001g0100
a0001c0001t0010g0049
a0003c0006t0001g0046
 9 HG00621.hp2
HG00738.hp2
HG02132.hp2
others(6): Show 
HG00621.hp2
HG00738.hp2
HG02132.hp2
HG02300.hp1
HG03831.hp2
NA19009.hp2
NA19062.hp2
NA19063.hp2
NA20300.hp2
 intron_variant MODIFIER c.2355+306G>T
c.2355+306G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 20/20 chr12 15622852
chr12:15623289 T
T
 TA
TA
 16 a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0035
others(13): Show 
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0035
a0001c0002t0001g0053
a0001c0002t0001g0069
a0001c0002t0001g0075
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0005t0005g0033
a0001c0005t0005g0043
 16 HG00733.hp1
HG01109.hp1
HG01884.hp2
others(13): Show 
HG00733.hp1
HG01109.hp1
HG01884.hp2
HG02055.hp1
HG02109.hp1
HG02451.hp1
HG02451.hp2
HG02630.hp1
HG02922.hp1
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03486.hp1
NA19030.hp1
NA19240.hp2
NA20300.hp1
 splice_region_variant&intron_variant LOW c.2226-3dupT
c.2226-3dupT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 19/20 chr12 15623289
chr12:15623393 C
C
 T
T
 4 a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
others(1): Show 
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
 4 HG02523.hp1
HG02630.hp2
HG03041.hp2
others(1): Show 
HG02523.hp1
HG02630.hp2
HG03041.hp2
NA18944.hp1
 intron_variant MODIFIER c.2226-106G>A
c.2226-106G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 19/20 chr12 15623393
chr12:15623578 T
T
 C
C
 1 a0001c0002t0001g0053
a0001c0002t0001g0053
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.2226-291A>G
c.2226-291A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 19/20 chr12 15623578
chr12:15623646 G
G
 C
C
 3 a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
 3 HG02451.hp1
HG02630.hp1
HG03139.hp1
HG02451.hp1
HG02630.hp1
HG03139.hp1
 intron_variant MODIFIER c.2226-359C>G
c.2226-359C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 19/20 chr12 15623646
chr12:15623934 T
T
 A
A
 3 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
 3 HG01891.hp1
HG02886.hp1
HG03098.hp1
HG01891.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.2225+293A>T
c.2225+293A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 19/20 chr12 15623934
chr12:15623998 T
T
 G
G
 6 a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
others(3): Show 
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0010t0004g0007
 6 HG02109.hp2
HG02622.hp2
HG03130.hp2
others(3): Show 
HG02109.hp2
HG02622.hp2
HG03130.hp2
HG03471.hp2
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.2225+229A>C
c.2225+229A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 19/20 chr12 15623998
chr12:15624079 C
C
 G
G
 20 a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
others(17): Show 
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0076
a0001c0002t0001g0078
 20 HG01109.hp2
HG02055.hp2
HG02145.hp1
others(17): Show 
HG01109.hp2
HG02055.hp2
HG02145.hp1
HG02559.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp2
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA19043.hp2
NA19062.hp1
NA19087.hp1
NA19240.hp1
 intron_variant MODIFIER c.2225+148G>C
c.2225+148G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 19/20 chr12 15624079
chr12:15624511 G
G
 A
A
 6 a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
others(3): Show 
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0010t0004g0007
 6 HG02109.hp2
HG02622.hp2
HG03130.hp2
others(3): Show 
HG02109.hp2
HG02622.hp2
HG03130.hp2
HG03471.hp2
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.2045-104C>T
c.2045-104C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15624511
chr12:15624552 T
T
 C
C
 100 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(97): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 100 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(97): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2045-145A>G
c.2045-145A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15624552
chr12:15624807 G
G
 T
T
 6 a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
others(3): Show 
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0010t0004g0007
 6 HG02109.hp2
HG02622.hp2
HG03130.hp2
others(3): Show 
HG02109.hp2
HG02622.hp2
HG03130.hp2
HG03471.hp2
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.2045-400C>A
c.2045-400C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15624807
chr12:15625001 C
C
 T
T
 1 a0001c0001t0010g0049
a0001c0001t0010g0049
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.2045-594G>A
c.2045-594G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15625001
chr12:15625051 A
A
 G
G
 4 a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
others(1): Show 
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
 4 HG02523.hp1
HG02630.hp2
HG03041.hp2
others(1): Show 
HG02523.hp1
HG02630.hp2
HG03041.hp2
NA18944.hp1
 intron_variant MODIFIER c.2045-644T>C
c.2045-644T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15625051
chr12:15625323 T
T
 G
G
 3 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
 3 HG01891.hp1
HG02886.hp1
HG03098.hp1
HG01891.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.2045-916A>C
c.2045-916A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15625323
chr12:15625933 C
C
 T
T
 1 a0001c0001t0002g0022
a0001c0001t0002g0022
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.2045-1526G>A
c.2045-1526G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15625933
chr12:15625960 C
C
 G
G
 89 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(86): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0001c0010t0004g0007
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 89 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(86): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2045-1553G>C
c.2045-1553G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15625960
chr12:15625976 G
G
 T
T
 6 a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
others(3): Show 
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0010t0004g0007
 6 HG02109.hp2
HG02622.hp2
HG03130.hp2
others(3): Show 
HG02109.hp2
HG02622.hp2
HG03130.hp2
HG03471.hp2
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.2045-1569C>A
c.2045-1569C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15625976
chr12:15626014 T
T
 C
C
 1 a0001c0002t0005g0014
a0001c0002t0005g0014
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.2045-1607A>G
c.2045-1607A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15626014
chr12:15626116 C
C
 T
T
 5 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
others(2): Show 
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
 5 HG01884.hp1
HG01891.hp1
HG02258.hp1
others(2): Show 
HG01884.hp1
HG01891.hp1
HG02258.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.2045-1709G>A
c.2045-1709G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15626116
chr12:15626117 G
G
 A
A
 3 a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
 3 HG02451.hp1
HG02630.hp1
HG03139.hp1
HG02451.hp1
HG02630.hp1
HG03139.hp1
 intron_variant MODIFIER c.2045-1710C>T
c.2045-1710C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15626117
chr12:15626405 C
C
 T
T
 5 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(2): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
 5 HG01243.hp2
HG01256.hp2
HG02622.hp1
others(2): Show 
HG01243.hp2
HG01256.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.2045-1998G>A
c.2045-1998G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15626405
chr12:15626490 G
G
 A
A
 5 a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
others(2): Show 
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
 5 HG02109.hp2
HG02622.hp2
HG03130.hp2
others(2): Show 
HG02109.hp2
HG02622.hp2
HG03130.hp2
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.2045-2083C>T
c.2045-2083C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15626490
chr12:15626544 T
T
 G
G
 101 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(98): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 101 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(98): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2045-2137A>C
c.2045-2137A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15626544
chr12:15626627 CA
CA
 C
C
 10 a0001c0001t0001g0011
a0001c0001t0001g0024
a0001c0001t0001g0025
others(7): Show 
a0001c0001t0001g0011
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
 10 HG00597.hp2
HG00733.hp2
HG01884.hp1
others(7): Show 
HG00597.hp2
HG00733.hp2
HG01884.hp1
HG01891.hp1
HG02132.hp1
HG02258.hp1
HG02886.hp1
HG03098.hp1
HG03471.hp1
NA18906.hp2
 intron_variant MODIFIER c.2045-2221delT
c.2045-2221delT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15626627
chr12:15626627 CAA
CAA
 C
C
 24 a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
others(21): Show 
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0076
a0001c0002t0001g0078
a0001c0002t0003g0001
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
 24 HG01109.hp1
HG01109.hp2
HG02055.hp2
others(21): Show 
HG01109.hp1
HG01109.hp2
HG02055.hp2
HG02145.hp1
HG02523.hp1
HG02559.hp2
HG02630.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18944.hp1
NA19043.hp2
NA19240.hp1
 intron_variant MODIFIER c.2045-2222_2045-222
others(6): Show 
c.2045-2222_2045-2221delTT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15626627
chr12:15626627 CAAA
CAAA
 C
C
 15 a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0035
others(12): Show 
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0035
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0075
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
 15 HG01884.hp2
HG02055.hp1
HG02109.hp1
others(12): Show 
HG01884.hp2
HG02055.hp1
HG02109.hp1
HG02451.hp1
HG02451.hp2
HG02630.hp1
HG02922.hp1
HG03098.hp2
HG03139.hp1
HG03486.hp1
NA19030.hp1
NA19062.hp1
NA19087.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.2045-2223_2045-222
others(7): Show 
c.2045-2223_2045-2221delTTT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15626627
chr12:15626712 G
G
 A
A
 1 a0001c0010t0004g0007
a0001c0010t0004g0007
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.2045-2305C>T
c.2045-2305C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15626712
chr12:15626738 A
A
 T
T
 1 a0001c0010t0004g0007
a0001c0010t0004g0007
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.2045-2331T>A
c.2045-2331T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15626738
chr12:15626781 G
G
 A
A
 1 a0001c0010t0004g0007
a0001c0010t0004g0007
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.2045-2374C>T
c.2045-2374C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15626781
chr12:15626782 C
C
 A
A
 1 a0001c0010t0004g0007
a0001c0010t0004g0007
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.2045-2375G>T
c.2045-2375G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15626782
chr12:15626991 T
T
 C
C
 9 a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
others(6): Show 
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
 9 HG02109.hp2
HG02523.hp1
HG02622.hp2
others(6): Show 
HG02109.hp2
HG02523.hp1
HG02622.hp2
HG02630.hp2
HG03041.hp2
HG03130.hp2
HG06807.hp2
NA18944.hp1
NA19030.hp2
 intron_variant MODIFIER c.2045-2584A>G
c.2045-2584A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15626991
chr12:15627092 T
T
 C
C
 101 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(98): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 101 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(98): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2045-2685A>G
c.2045-2685A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15627092
chr12:15627155 A
A
 G
G
 101 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(98): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 101 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(98): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2045-2748T>C
c.2045-2748T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15627155
chr12:15627162 T
T
 C
C
 56 a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0025
others(53): Show 
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
 56 HG00597.hp2
HG00733.hp1
HG01109.hp1
others(53): Show 
HG00597.hp2
HG00733.hp1
HG01109.hp1
HG01109.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp2
NA18906.hp2
NA18944.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19062.hp1
NA19087.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.2045-2755A>G
c.2045-2755A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15627162
chr12:15627293 C
C
 T
T
 3 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
 3 HG01891.hp1
HG02886.hp1
HG03098.hp1
HG01891.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.2045-2886G>A
c.2045-2886G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15627293
chr12:15627297 C
C
 T
T
 2 a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0070
a0001c0002t0001g0071
 2 HG02145.hp1
HG02965.hp2
HG02145.hp1
HG02965.hp2
 intron_variant MODIFIER c.2045-2890G>A
c.2045-2890G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15627297
chr12:15627313 G
G
 GT
GT
 4 a0001c0001t0001g0024
a0001c0001t0001g0067
a0001c0001t0001g0068
others(1): Show 
a0001c0001t0001g0024
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0002t0001g0006
 4 HG00733.hp2
HG02559.hp1
HG02922.hp1
others(1): Show 
HG00733.hp2
HG02559.hp1
HG02922.hp1
HG03516.hp2
 intron_variant MODIFIER c.2045-2907dupA
c.2045-2907dupA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15627313
chr12:15627330 C
C
 T
T
 1 a0001c0002t0001g0069
a0001c0002t0001g0069
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.2045-2923G>A
c.2045-2923G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15627330
chr12:15627457 T
T
 G
G
 1 a0001c0002t0001g0053
a0001c0002t0001g0053
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.2045-3050A>C
c.2045-3050A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15627457
chr12:15627478 G
G
 A
A
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.2045-3071C>T
c.2045-3071C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15627478
chr12:15627701 A
A
 C
C
 1 a0003c0006t0001g0091
a0003c0006t0001g0091
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.2045-3294T>G
c.2045-3294T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15627701
chr12:15627805 G
G
 A
A
 2 a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0020
a0001c0001t0001g0058
 2 HG01261.hp2
NA18906.hp2
HG01261.hp2
NA18906.hp2
 intron_variant MODIFIER c.2045-3398C>T
c.2045-3398C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15627805
chr12:15627829 T
T
 C
C
 46 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
others(43): Show 
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0010t0004g0007
 46 HG00733.hp1
HG01109.hp1
HG01109.hp2
others(43): Show 
HG00733.hp1
HG01109.hp1
HG01109.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19062.hp1
NA19087.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.2045-3422A>G
c.2045-3422A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15627829
chr12:15628014 T
T
 G
G
 1 a0001c0002t0001g0047
a0001c0002t0001g0047
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.2044+3428A>C
c.2044+3428A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15628014
chr12:15628060 T
T
 C
C
 3 a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0058
 3 HG01261.hp2
HG03471.hp1
NA18906.hp2
HG01261.hp2
HG03471.hp1
NA18906.hp2
 intron_variant MODIFIER c.2044+3382A>G
c.2044+3382A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15628060
chr12:15628306 T
T
 C
C
 101 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(98): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 101 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(98): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2044+3136A>G
c.2044+3136A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15628306
chr12:15628561 A
A
 G
G
 1 a0001c0010t0004g0007
a0001c0010t0004g0007
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.2044+2881T>C
c.2044+2881T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15628561
chr12:15628566 A
A
 G
G
 4 a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
others(1): Show 
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
 4 HG02523.hp1
HG02630.hp2
HG03041.hp2
others(1): Show 
HG02523.hp1
HG02630.hp2
HG03041.hp2
NA18944.hp1
 intron_variant MODIFIER c.2044+2876T>C
c.2044+2876T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15628566
chr12:15629404 T
T
 A
A
 1 a0004c0008t0001g0028
a0004c0008t0001g0028
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.2044+2038A>T
c.2044+2038A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15629404
chr12:15629518 T
T
 C
C
 3 a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0002t0008g0051
 3 HG00733.hp1
HG02258.hp1
HG03041.hp1
HG00733.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.2044+1924A>G
c.2044+1924A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15629518
chr12:15629730 G
G
 A
A
 1 a0001c0001t0001g0045
a0001c0001t0001g0045
 1 NA18978.hp1
NA18978.hp1
 intron_variant MODIFIER c.2044+1712C>T
c.2044+1712C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15629730
chr12:15629734 A
A
 T
T
 1 a0001c0001t0002g0012
a0001c0001t0002g0012
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.2044+1708T>A
c.2044+1708T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15629734
chr12:15630204 T
T
 TCA
TCA
 2 a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0025
a0001c0001t0001g0056
 2 HG00597.hp2
HG02132.hp1
HG00597.hp2
HG02132.hp1
 intron_variant MODIFIER c.2044+1236_2044+123
others(6): Show 
c.2044+1236_2044+1237dupTG
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15630204
chr12:15630204 T
T
 TCACA
TCACA
 48 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(45): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0009t0001g0088
a0001c0010t0004g0007
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 48 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(45): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01891.hp2
HG02109.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02717.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03130.hp2
HG03471.hp2
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18944.hp2
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2044+1234_2044+123
others(8): Show 
c.2044+1234_2044+1237dupTGTG
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15630204
chr12:15630204 T
T
 TCACACA
TCACACA
 20 a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
others(17): Show 
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0076
a0001c0002t0001g0078
 20 HG01109.hp2
HG02055.hp2
HG02145.hp1
others(17): Show 
HG01109.hp2
HG02055.hp2
HG02145.hp1
HG02559.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp2
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA19043.hp2
NA19062.hp1
NA19087.hp1
NA19240.hp1
 intron_variant MODIFIER c.2044+1232_2044+123
others(10): Show 
c.2044+1232_2044+1237dupTGTGTG
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15630204
chr12:15630239 C
C
 T
T
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.2044+1203G>A
c.2044+1203G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15630239
chr12:15630439 A
A
 G
G
 3 a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0002t0008g0051
 3 HG00733.hp1
HG02258.hp1
HG03041.hp1
HG00733.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.2044+1003T>C
c.2044+1003T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15630439
chr12:15630520 T
T
 C
C
 3 a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
 3 HG02451.hp1
HG02630.hp1
HG03139.hp1
HG02451.hp1
HG02630.hp1
HG03139.hp1
 intron_variant MODIFIER c.2044+922A>G
c.2044+922A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15630520
chr12:15630639 G
G
 A
A
 20 a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
others(17): Show 
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0076
a0001c0002t0001g0078
 20 HG01109.hp2
HG02055.hp2
HG02145.hp1
others(17): Show 
HG01109.hp2
HG02055.hp2
HG02145.hp1
HG02559.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp2
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA19043.hp2
NA19062.hp1
NA19087.hp1
NA19240.hp1
 intron_variant MODIFIER c.2044+803C>T
c.2044+803C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15630639
chr12:15630703 TAGGA
TAGGA
 T
T
 5 a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
others(2): Show 
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
 5 HG02109.hp2
HG02622.hp2
HG03130.hp2
others(2): Show 
HG02109.hp2
HG02622.hp2
HG03130.hp2
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.2044+735_2044+738d
others(6): Show 
c.2044+735_2044+738delTCCT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15630703
chr12:15630775 A
A
 G
G
 1 a0001c0002t0001g0040
a0001c0002t0001g0040
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.2044+667T>C
c.2044+667T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15630775
chr12:15631014 A
A
 G
G
 4 a0001c0001t0001g0029
a0001c0001t0001g0059
a0001c0001t0001g0082
others(1): Show 
a0001c0001t0001g0029
a0001c0001t0001g0059
a0001c0001t0001g0082
a0004c0008t0001g0028
 4 HG00738.hp1
HG01071.hp1
HG02300.hp2
others(1): Show 
HG00738.hp1
HG01071.hp1
HG02300.hp2
HG03017.hp2
 intron_variant MODIFIER c.2044+428T>C
c.2044+428T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15631014
chr12:15631117 G
G
 T
T
 1 a0001c0001t0001g0011
a0001c0001t0001g0011
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.2044+325C>A
c.2044+325C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15631117
chr12:15631161 T
T
 C
C
 29 a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
others(26): Show 
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0076
a0001c0002t0001g0078
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
 29 HG01109.hp2
HG02055.hp2
HG02109.hp2
others(26): Show 
HG01109.hp2
HG02055.hp2
HG02109.hp2
HG02145.hp1
HG02523.hp1
HG02559.hp2
HG02622.hp2
HG02630.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp2
NA18944.hp1
NA19030.hp2
NA19043.hp2
NA19062.hp1
NA19087.hp1
NA19240.hp1
 intron_variant MODIFIER c.2044+281A>G
c.2044+281A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15631161
chr12:15631233 G
G
 C
C
 2 a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0025
a0001c0001t0001g0056
 2 HG00597.hp2
HG02132.hp1
HG00597.hp2
HG02132.hp1
 intron_variant MODIFIER c.2044+209C>G
c.2044+209C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15631233
chr12:15631284 C
C
 G
G
 20 a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
others(17): Show 
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0076
a0001c0002t0001g0078
 20 HG01109.hp2
HG02055.hp2
HG02145.hp1
others(17): Show 
HG01109.hp2
HG02055.hp2
HG02145.hp1
HG02559.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp2
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA19043.hp2
NA19062.hp1
NA19087.hp1
NA19240.hp1
 intron_variant MODIFIER c.2044+158G>C
c.2044+158G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 18/20 chr12 15631284
chr12:15631889 C
C
 T
T
 3 a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
 3 HG02451.hp1
HG02630.hp1
HG03139.hp1
HG02451.hp1
HG02630.hp1
HG03139.hp1
 intron_variant MODIFIER c.1822-225G>A
c.1822-225G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15631889
chr12:15631893 G
G
 A
A
 1 a0001c0007t0012g0015
a0001c0007t0012g0015
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1822-229C>T
c.1822-229C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15631893
chr12:15631907 G
G
 A
A
 2 a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0025
a0001c0001t0001g0056
 2 HG00597.hp2
HG02132.hp1
HG00597.hp2
HG02132.hp1
 intron_variant MODIFIER c.1822-243C>T
c.1822-243C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15631907
chr12:15632035 G
G
 T
T
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.1822-371C>A
c.1822-371C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15632035
chr12:15632286 T
T
 C
C
 100 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(97): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 100 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(97): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1822-622A>G
c.1822-622A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15632286
chr12:15632446 TTAAATC
TTAAATC
 T
T
 2 a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0025
a0001c0001t0001g0056
 2 HG00597.hp2
HG02132.hp1
HG00597.hp2
HG02132.hp1
 intron_variant MODIFIER c.1822-788_1822-783d
others(8): Show 
c.1822-788_1822-783delGATTTA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15632446
chr12:15632522 T
T
 A
A
 3 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
 3 HG01891.hp1
HG02886.hp1
HG03098.hp1
HG01891.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.1822-858A>T
c.1822-858A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15632522
chr12:15632764 C
C
 CCA
CCA
 3 a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
 3 HG02451.hp1
HG02630.hp1
HG03139.hp1
HG02451.hp1
HG02630.hp1
HG03139.hp1
 intron_variant MODIFIER c.1822-1102_1822-110
others(6): Show 
c.1822-1102_1822-1101dupTG
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15632764
chr12:15632773 G
G
 C
C
 3 a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
 3 HG02451.hp1
HG02630.hp1
HG03139.hp1
HG02451.hp1
HG02630.hp1
HG03139.hp1
 intron_variant MODIFIER c.1822-1109C>G
c.1822-1109C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15632773
chr12:15632833 A
A
 C
C
 100 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(97): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 100 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(97): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1822-1169T>G
c.1822-1169T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15632833
chr12:15632938 A
A
 T
T
 4 a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
others(1): Show 
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
 4 HG02523.hp1
HG02630.hp2
HG03041.hp2
others(1): Show 
HG02523.hp1
HG02630.hp2
HG03041.hp2
NA18944.hp1
 intron_variant MODIFIER c.1822-1274T>A
c.1822-1274T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15632938
chr12:15633059 G
G
 A
A
 20 a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
others(17): Show 
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0076
a0001c0002t0001g0078
 20 HG01109.hp2
HG02055.hp2
HG02145.hp1
others(17): Show 
HG01109.hp2
HG02055.hp2
HG02145.hp1
HG02559.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp2
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA19043.hp2
NA19062.hp1
NA19087.hp1
NA19240.hp1
 intron_variant MODIFIER c.1822-1395C>T
c.1822-1395C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15633059
chr12:15633094 T
T
 C
C
 2 a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0062
a0002c0004t0001g0079
 2 HG02630.hp2
HG03041.hp2
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.1822-1430A>G
c.1822-1430A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15633094
chr12:15633190 T
T
 C
C
 4 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
others(1): Show 
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
 4 HG01884.hp1
HG01891.hp1
HG02886.hp1
others(1): Show 
HG01884.hp1
HG01891.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.1822-1526A>G
c.1822-1526A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15633190
chr12:15633453 G
G
 A
A
 1 a0001c0001t0001g0021
a0001c0001t0001g0021
 1 HG01256.hp2
HG01256.hp2
 intron_variant MODIFIER c.1822-1789C>T
c.1822-1789C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15633453
chr12:15633596 C
C
 T
T
 1 a0001c0001t0002g0026
a0001c0001t0002g0026
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.1822-1932G>A
c.1822-1932G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15633596
chr12:15633838 A
A
 G
G
 20 a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
others(17): Show 
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0076
a0001c0002t0001g0078
 20 HG01109.hp2
HG02055.hp2
HG02145.hp1
others(17): Show 
HG01109.hp2
HG02055.hp2
HG02145.hp1
HG02559.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp2
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA19043.hp2
NA19062.hp1
NA19087.hp1
NA19240.hp1
 intron_variant MODIFIER c.1822-2174T>C
c.1822-2174T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15633838
chr12:15633944 A
A
 C
C
 42 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
others(39): Show 
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0010t0004g0007
 42 HG00733.hp1
HG01109.hp1
HG01109.hp2
others(39): Show 
HG00733.hp1
HG01109.hp1
HG01109.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02630.hp1
HG02717.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA19043.hp2
NA19062.hp1
NA19087.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.1822-2280T>G
c.1822-2280T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15633944
chr12:15634055 C
C
 G
G
 9 a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
others(6): Show 
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
 9 HG02109.hp2
HG02523.hp1
HG02622.hp2
others(6): Show 
HG02109.hp2
HG02523.hp1
HG02622.hp2
HG02630.hp2
HG03041.hp2
HG03130.hp2
HG06807.hp2
NA18944.hp1
NA19030.hp2
 intron_variant MODIFIER c.1822-2391G>C
c.1822-2391G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15634055
chr12:15634141 T
T
 C
C
 2 a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0062
a0002c0004t0001g0079
 2 HG02630.hp2
HG03041.hp2
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.1822-2477A>G
c.1822-2477A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15634141
chr12:15634542 C
C
 T
T
 11 a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0053
others(8): Show 
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0053
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
 11 HG01109.hp1
HG01884.hp2
HG02055.hp1
others(8): Show 
HG01109.hp1
HG01884.hp2
HG02055.hp1
HG02451.hp1
HG02630.hp1
HG02922.hp1
HG03139.hp1
HG03486.hp1
NA19030.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.1822-2878G>A
c.1822-2878G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15634542
chr12:15634726 G
G
 A
A
 1 a0001c0010t0004g0007
a0001c0010t0004g0007
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1822-3062C>T
c.1822-3062C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15634726
chr12:15635056 T
T
 G
G
 1 a0001c0010t0004g0007
a0001c0010t0004g0007
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1822-3392A>C
c.1822-3392A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15635056
chr12:15635186 C
C
 CA
CA
 2 a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0025
a0001c0001t0001g0056
 2 HG00597.hp2
HG02132.hp1
HG00597.hp2
HG02132.hp1
 intron_variant MODIFIER c.1822-3523dupT
c.1822-3523dupT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15635186
chr12:15635311 T
T
 C
C
 4 a0001c0002t0001g0032
a0001c0002t0001g0069
a0001c0002t0001g0077
others(1): Show 
a0001c0002t0001g0032
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0003
 4 HG02055.hp1
HG03486.hp1
NA19030.hp1
others(1): Show 
HG02055.hp1
HG03486.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.1822-3647A>G
c.1822-3647A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15635311
chr12:15635512 G
G
 A
A
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.1822-3848C>T
c.1822-3848C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15635512
chr12:15635595 T
T
 C
C
 20 a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
others(17): Show 
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0076
a0001c0002t0001g0078
 20 HG01109.hp2
HG02055.hp2
HG02145.hp1
others(17): Show 
HG01109.hp2
HG02055.hp2
HG02145.hp1
HG02559.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp2
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA19043.hp2
NA19062.hp1
NA19087.hp1
NA19240.hp1
 intron_variant MODIFIER c.1822-3931A>G
c.1822-3931A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15635595
chr12:15635637 T
T
 A
A
 20 a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
others(17): Show 
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0076
a0001c0002t0001g0078
 20 HG01109.hp2
HG02055.hp2
HG02145.hp1
others(17): Show 
HG01109.hp2
HG02055.hp2
HG02145.hp1
HG02559.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp2
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA19043.hp2
NA19062.hp1
NA19087.hp1
NA19240.hp1
 intron_variant MODIFIER c.1822-3973A>T
c.1822-3973A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15635637
chr12:15635748 C
C
 T
T
 1 a0001c0010t0004g0007
a0001c0010t0004g0007
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1822-4084G>A
c.1822-4084G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15635748
chr12:15636131 G
G
 C
C
 5 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
others(2): Show 
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
 5 HG01884.hp1
HG01891.hp1
HG02258.hp1
others(2): Show 
HG01884.hp1
HG01891.hp1
HG02258.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.1822-4467C>G
c.1822-4467C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15636131
chr12:15636195 A
A
 C
C
 100 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(97): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 100 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(97): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1821+4508T>G
c.1821+4508T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15636195
chr12:15636623 G
G
 A
A
 44 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(41): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0009t0001g0088
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 44 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(41): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01891.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02717.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
NA18906.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1821+4080C>T
c.1821+4080C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15636623
chr12:15636636 T
T
 C
C
 3 a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
 3 HG02451.hp1
HG02630.hp1
HG03139.hp1
HG02451.hp1
HG02630.hp1
HG03139.hp1
 intron_variant MODIFIER c.1821+4067A>G
c.1821+4067A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15636636
chr12:15636725 T
T
 C
C
 1 a0001c0001t0002g0026
a0001c0001t0002g0026
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.1821+3978A>G
c.1821+3978A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15636725
chr12:15636805 T
T
 C
C
 1 a0001c0010t0004g0007
a0001c0010t0004g0007
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1821+3898A>G
c.1821+3898A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15636805
chr12:15637044 C
C
 T
T
 1 a0001c0001t0002g0026
a0001c0001t0002g0026
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.1821+3659G>A
c.1821+3659G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15637044
chr12:15637061 G
G
 A
A
 1 a0001c0002t0001g0078
a0001c0002t0001g0078
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1821+3642C>T
c.1821+3642C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15637061
chr12:15637062 C
C
 T
T
 5 a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0069
others(2): Show 
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0003
 5 HG02055.hp1
HG02922.hp1
HG03486.hp1
others(2): Show 
HG02055.hp1
HG02922.hp1
HG03486.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.1821+3641G>A
c.1821+3641G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15637062
chr12:15637419 T
T
 C
C
 3 a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
 3 HG02451.hp1
HG02630.hp1
HG03139.hp1
HG02451.hp1
HG02630.hp1
HG03139.hp1
 intron_variant MODIFIER c.1821+3284A>G
c.1821+3284A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15637419
chr12:15637540 C
C
 T
T
 4 a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
others(1): Show 
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
 4 HG02523.hp1
HG02630.hp2
HG03041.hp2
others(1): Show 
HG02523.hp1
HG02630.hp2
HG03041.hp2
NA18944.hp1
 intron_variant MODIFIER c.1821+3163G>A
c.1821+3163G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15637540
chr12:15637616 G
G
 A
A
 3 a0001c0002t0001g0035
a0001c0002t0001g0075
a0001c0002t0001g0080
a0001c0002t0001g0035
a0001c0002t0001g0075
a0001c0002t0001g0080
 3 HG02109.hp1
HG02451.hp2
HG03098.hp2
HG02109.hp1
HG02451.hp2
HG03098.hp2
 intron_variant MODIFIER c.1821+3087C>T
c.1821+3087C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15637616
chr12:15638015 T
T
 C
C
 2 a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0036
a0001c0001t0001g0038
 2 HG02145.hp2
HG02965.hp1
HG02145.hp2
HG02965.hp1
 intron_variant MODIFIER c.1821+2688A>G
c.1821+2688A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15638015
chr12:15638221 A
A
 G
G
 3 a0001c0002t0001g0035
a0001c0002t0001g0075
a0001c0002t0001g0080
a0001c0002t0001g0035
a0001c0002t0001g0075
a0001c0002t0001g0080
 3 HG02109.hp1
HG02451.hp2
HG03098.hp2
HG02109.hp1
HG02451.hp2
HG03098.hp2
 intron_variant MODIFIER c.1821+2482T>C
c.1821+2482T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15638221
chr12:15638433 G
G
 T
T
 46 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(43): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0022
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0047
a0001c0009t0001g0088
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 46 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(43): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01891.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02717.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
NA18906.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1821+2270C>A
c.1821+2270C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15638433
chr12:15638970 T
T
 C
C
 100 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(97): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 100 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(97): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1821+1733A>G
c.1821+1733A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15638970
chr12:15639000 C
C
 T
T
 3 a0001c0002t0001g0035
a0001c0002t0001g0075
a0001c0002t0001g0080
a0001c0002t0001g0035
a0001c0002t0001g0075
a0001c0002t0001g0080
 3 HG02109.hp1
HG02451.hp2
HG03098.hp2
HG02109.hp1
HG02451.hp2
HG03098.hp2
 intron_variant MODIFIER c.1821+1703G>A
c.1821+1703G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15639000
chr12:15639117 T
T
 C
C
 15 a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0053
others(12): Show 
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0053
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
 15 HG00733.hp1
HG01109.hp1
HG01884.hp2
others(12): Show 
HG00733.hp1
HG01109.hp1
HG01884.hp2
HG02055.hp1
HG02109.hp2
HG02622.hp2
HG02922.hp1
HG03041.hp1
HG03130.hp2
HG03486.hp1
HG06807.hp2
NA19030.hp1
NA19030.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.1821+1586A>G
c.1821+1586A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15639117
chr12:15639532 C
C
 T
T
 1 a0001c0001t0002g0022
a0001c0001t0002g0022
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.1821+1171G>A
c.1821+1171G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15639532
chr12:15639596 C
C
 A
A
 1 a0001c0001t0002g0026
a0001c0001t0002g0026
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.1821+1107G>T
c.1821+1107G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15639596
chr12:15639671 C
C
 T
T
 1 a0001c0001t0002g0026
a0001c0001t0002g0026
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.1821+1032G>A
c.1821+1032G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15639671
chr12:15639776 A
A
 G
G
 3 a0001c0002t0001g0035
a0001c0002t0001g0075
a0001c0002t0001g0080
a0001c0002t0001g0035
a0001c0002t0001g0075
a0001c0002t0001g0080
 3 HG02109.hp1
HG02451.hp2
HG03098.hp2
HG02109.hp1
HG02451.hp2
HG03098.hp2
 intron_variant MODIFIER c.1821+927T>C
c.1821+927T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15639776
chr12:15639851 G
G
 C
C
 5 a0001c0002t0001g0053
a0001c0002t0003g0001
a0001c0002t0003g0002
others(2): Show 
a0001c0002t0001g0053
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0008g0023
a0001c0002t0008g0051
 5 HG00733.hp1
HG01109.hp1
HG01884.hp2
others(2): Show 
HG00733.hp1
HG01109.hp1
HG01884.hp2
HG03041.hp1
NA19240.hp2
 intron_variant MODIFIER c.1821+852C>G
c.1821+852C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15639851
chr12:15639873 G
G
 A
A
 1 a0001c0002t0001g0050
a0001c0002t0001g0050
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1821+830C>T
c.1821+830C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15639873
chr12:15639945 G
G
 A
A
 2 a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0025
a0001c0001t0001g0056
 2 HG00597.hp2
HG02132.hp1
HG00597.hp2
HG02132.hp1
 intron_variant MODIFIER c.1821+758C>T
c.1821+758C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15639945
chr12:15639960 C
C
 T
T
 1 a0001c0001t0001g0021
a0001c0001t0001g0021
 1 HG01256.hp2
HG01256.hp2
 intron_variant MODIFIER c.1821+743G>A
c.1821+743G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15639960
chr12:15640445 T
T
 C
C
 5 a0001c0002t0001g0053
a0001c0002t0003g0001
a0001c0002t0003g0002
others(2): Show 
a0001c0002t0001g0053
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0008g0023
a0001c0002t0008g0051
 5 HG00733.hp1
HG01109.hp1
HG01884.hp2
others(2): Show 
HG00733.hp1
HG01109.hp1
HG01884.hp2
HG03041.hp1
NA19240.hp2
 intron_variant MODIFIER c.1821+258A>G
c.1821+258A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15640445
chr12:15640466 G
G
 A
A
 4 a0001c0002t0001g0032
a0001c0002t0001g0069
a0001c0002t0001g0077
others(1): Show 
a0001c0002t0001g0032
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0003
 4 HG02055.hp1
HG03486.hp1
NA19030.hp1
others(1): Show 
HG02055.hp1
HG03486.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.1821+237C>T
c.1821+237C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15640466
chr12:15640563 C
C
 T
T
 3 a0001c0002t0001g0053
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0001g0053
a0001c0002t0003g0001
a0001c0002t0003g0002
 3 HG01109.hp1
HG01884.hp2
NA19240.hp2
HG01109.hp1
HG01884.hp2
NA19240.hp2
 intron_variant MODIFIER c.1821+140G>A
c.1821+140G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 17/20 chr12 15640563
chr12:15640931 T
T
 C
C
 19 a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
others(16): Show 
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0076
a0001c0002t0001g0078
 19 HG01109.hp2
HG02055.hp2
HG02145.hp1
others(16): Show 
HG01109.hp2
HG02055.hp2
HG02145.hp1
HG02559.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp2
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA19043.hp2
NA19087.hp1
NA19240.hp1
 intron_variant MODIFIER c.1678-85A>G
c.1678-85A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 16/20 chr12 15640931
chr12:15641019 T
T
 C
C
 1 a0001c0010t0004g0007
a0001c0010t0004g0007
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1678-173A>G
c.1678-173A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 16/20 chr12 15641019
chr12:15641021 CA
CA
 C
C
 22 a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0058
others(19): Show 
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0076
a0001c0002t0001g0078
 22 HG01109.hp2
HG01261.hp2
HG02055.hp2
others(19): Show 
HG01109.hp2
HG01261.hp2
HG02055.hp2
HG02145.hp1
HG02559.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp2
NA19043.hp2
NA19087.hp1
NA19240.hp1
 intron_variant MODIFIER c.1678-176delT
c.1678-176delT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 16/20 chr12 15641021
chr12:15641159 A
A
 T
T
 1 a0001c0001t0001g0011
a0001c0001t0001g0011
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1678-313T>A
c.1678-313T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 16/20 chr12 15641159
chr12:15641178 T
T
 C
C
 1 a0001c0001t0001g0005
a0001c0001t0001g0005
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.1678-332A>G
c.1678-332A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 16/20 chr12 15641178
chr12:15641302 T
T
 C
C
 3 a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0058
 3 HG01261.hp2
HG03471.hp1
NA18906.hp2
HG01261.hp2
HG03471.hp1
NA18906.hp2
 intron_variant MODIFIER c.1677+420A>G
c.1677+420A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 16/20 chr12 15641302
chr12:15641373 G
G
 GAA
GAA
 101 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(98): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 101 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(98): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1677+347_1677+348d
others(4): Show 
c.1677+347_1677+348dupTT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 16/20 chr12 15641373
chr12:15641437 C
C
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1677+285G>A
c.1677+285G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 16/20 chr12 15641437
chr12:15641469 G
G
 C
C
 1 a0001c0001t0002g0026
a0001c0001t0002g0026
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.1677+253C>G
c.1677+253C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 16/20 chr12 15641469
chr12:15641511 C
C
 T
T
 3 a0001c0002t0001g0035
a0001c0002t0001g0075
a0001c0002t0001g0080
a0001c0002t0001g0035
a0001c0002t0001g0075
a0001c0002t0001g0080
 3 HG02109.hp1
HG02451.hp2
HG03098.hp2
HG02109.hp1
HG02451.hp2
HG03098.hp2
 intron_variant MODIFIER c.1677+211G>A
c.1677+211G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 16/20 chr12 15641511
chr12:15641637 T
T
 C
C
 1 a0001c0002t0003g0001
a0001c0002t0003g0001
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.1677+85A>G
c.1677+85A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 16/20 chr12 15641637
chr12:15641686 T
T
 C
C
 24 a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0025
others(21): Show 
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0076
a0001c0002t0001g0078
 24 HG00597.hp2
HG01109.hp2
HG01261.hp2
others(21): Show 
HG00597.hp2
HG01109.hp2
HG01261.hp2
HG02055.hp2
HG02132.hp1
HG02145.hp1
HG02559.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp2
NA19043.hp2
NA19087.hp1
NA19240.hp1
 intron_variant MODIFIER c.1677+36A>G
c.1677+36A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 16/20 chr12 15641686
chr12:15641862 T
T
 C
C
 1 a0001c0002t0001g0055
a0001c0002t0001g0055
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.1569-32A>G
c.1569-32A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15641862
chr12:15642215 T
T
 C
C
 8 a0001c0002t0005g0014
a0001c0003t0004g0030
a0001c0003t0004g0031
others(5): Show 
a0001c0002t0005g0014
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
 8 HG02109.hp2
HG02451.hp1
HG02622.hp2
others(5): Show 
HG02109.hp2
HG02451.hp1
HG02622.hp2
HG02630.hp1
HG03130.hp2
HG03139.hp1
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.1569-385A>G
c.1569-385A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15642215
chr12:15642236 T
T
 C
C
 1 a0001c0001t0001g0021
a0001c0001t0001g0021
 1 HG01256.hp2
HG01256.hp2
 intron_variant MODIFIER c.1569-406A>G
c.1569-406A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15642236
chr12:15642451 T
T
 C
C
 1 a0001c0001t0002g0026
a0001c0001t0002g0026
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.1569-621A>G
c.1569-621A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15642451
chr12:15642714 G
G
 A
A
 1 a0001c0002t0001g0047
a0001c0002t0001g0047
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.1569-884C>T
c.1569-884C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15642714
chr12:15642813 C
C
 T
T
 8 a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0053
others(5): Show 
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0053
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
 8 HG01109.hp1
HG01884.hp2
HG02055.hp1
others(5): Show 
HG01109.hp1
HG01884.hp2
HG02055.hp1
HG02922.hp1
HG03486.hp1
NA19030.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.1569-983G>A
c.1569-983G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15642813
chr12:15642941 A
A
 C
C
 76 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(73): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0035
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0069
a0001c0002t0001g0075
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 76 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(73): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1569-1111T>G
c.1569-1111T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15642941
chr12:15642948 C
C
 T
T
 4 a0001c0002t0001g0032
a0001c0002t0001g0069
a0001c0002t0001g0077
others(1): Show 
a0001c0002t0001g0032
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0003
 4 HG02055.hp1
HG03486.hp1
NA19030.hp1
others(1): Show 
HG02055.hp1
HG03486.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.1569-1118G>A
c.1569-1118G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15642948
chr12:15643063 A
A
 G
G
 2 a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0025
a0001c0001t0001g0056
 2 HG00597.hp2
HG02132.hp1
HG00597.hp2
HG02132.hp1
 intron_variant MODIFIER c.1569-1233T>C
c.1569-1233T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15643063
chr12:15643284 T
T
 G
G
 98 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(95): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 98 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(95): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1569-1454A>C
c.1569-1454A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15643284
chr12:15643676 G
G
 A
A
 74 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(71): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0035
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0069
a0001c0002t0001g0075
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 74 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(71): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1569-1846C>T
c.1569-1846C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15643676
chr12:15643699 A
A
 G
G
 46 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(43): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0022
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0047
a0001c0009t0001g0088
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 46 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(43): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01891.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02717.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
NA18906.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1569-1869T>C
c.1569-1869T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15643699
chr12:15643720 C
C
 T
T
 1 a0001c0007t0012g0015
a0001c0007t0012g0015
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1569-1890G>A
c.1569-1890G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15643720
chr12:15643740 G
G
 GAAAAAAA
others(1): Show 
GAAAAAAAA
 4 a0001c0001t0002g0026
a0001c0010t0004g0007
a0002c0004t0001g0062
others(1): Show 
a0001c0001t0002g0026
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
 4 HG02258.hp1
HG02630.hp2
HG03041.hp2
others(1): Show 
HG02258.hp1
HG02630.hp2
HG03041.hp2
HG03471.hp2
 intron_variant MODIFIER c.1569-1918_1569-191
others(12): Show 
c.1569-1918_1569-1911dupTTTTTTTT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15643740
chr12:15643740 GA
GA
 G
G
 4 a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0002t0001g0050
others(1): Show 
a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0002t0001g0050
a0001c0002t0001g0054
 4 HG00597.hp2
HG02132.hp1
HG02976.hp1
others(1): Show 
HG00597.hp2
HG02132.hp1
HG02976.hp1
NA19043.hp2
 intron_variant MODIFIER c.1569-1911delT
c.1569-1911delT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15643740
chr12:15643740 GAA
GAA
 G
G
 65 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(62): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 65 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(62): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03486.hp1
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1569-1912_1569-191
others(6): Show 
c.1569-1912_1569-1911delTT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15643740
chr12:15643743 A
A
 G
G
 4 a0001c0001t0001g0029
a0001c0001t0001g0059
a0001c0001t0001g0082
others(1): Show 
a0001c0001t0001g0029
a0001c0001t0001g0059
a0001c0001t0001g0082
a0004c0008t0001g0028
 4 HG00738.hp1
HG01071.hp1
HG02300.hp2
others(1): Show 
HG00738.hp1
HG01071.hp1
HG02300.hp2
HG03017.hp2
 intron_variant MODIFIER c.1569-1913T>C
c.1569-1913T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15643743
chr12:15643778 C
C
 A
A
 1 a0001c0001t0002g0022
a0001c0001t0002g0022
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.1569-1948G>T
c.1569-1948G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15643778
chr12:15643924 T
T
 C
C
 22 a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0058
others(19): Show 
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0076
a0001c0002t0001g0078
 22 HG01109.hp2
HG01261.hp2
HG02055.hp2
others(19): Show 
HG01109.hp2
HG01261.hp2
HG02055.hp2
HG02145.hp1
HG02559.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp2
NA19043.hp2
NA19087.hp1
NA19240.hp1
 intron_variant MODIFIER c.1569-2094A>G
c.1569-2094A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15643924
chr12:15644697 CA
CA
 C
C
 91 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(88): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0005g0014
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0004c0008t0001g0028
 91 HG00597.hp1
HG00597.hp2
HG00738.hp1
others(88): Show 
HG00597.hp1
HG00597.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1568+2429delT
c.1568+2429delT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15644697
chr12:15644697 CAA
CAA
 C
C
 4 a0001c0002t0001g0032
a0001c0002t0001g0069
a0001c0002t0001g0077
others(1): Show 
a0001c0002t0001g0032
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0003
 4 HG02055.hp1
HG03486.hp1
NA19030.hp1
others(1): Show 
HG02055.hp1
HG03486.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.1568+2428_1568+242
others(6): Show 
c.1568+2428_1568+2429delTT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15644697
chr12:15644792 C
C
 G
G
 1 a0001c0002t0001g0040
a0001c0002t0001g0040
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1568+2335G>C
c.1568+2335G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15644792
chr12:15644827 T
T
 A
A
 22 a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0058
others(19): Show 
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0076
a0001c0002t0001g0078
 22 HG01109.hp2
HG01261.hp2
HG02055.hp2
others(19): Show 
HG01109.hp2
HG01261.hp2
HG02055.hp2
HG02145.hp1
HG02559.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp2
NA19043.hp2
NA19087.hp1
NA19240.hp1
 intron_variant MODIFIER c.1568+2300A>T
c.1568+2300A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15644827
chr12:15645387 A
A
 G
G
 1 a0001c0002t0001g0076
a0001c0002t0001g0076
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.1568+1740T>C
c.1568+1740T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15645387
chr12:15645421 TCTTAA
TCTTAA
 T
T
 76 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(73): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0035
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0069
a0001c0002t0001g0075
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 76 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(73): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1568+1701_1568+170
others(9): Show 
c.1568+1701_1568+1705delTTAAG
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15645421
chr12:15645476 C
C
 G
G
 24 a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0025
others(21): Show 
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0076
a0001c0002t0001g0078
 24 HG00597.hp2
HG01109.hp2
HG01261.hp2
others(21): Show 
HG00597.hp2
HG01109.hp2
HG01261.hp2
HG02055.hp2
HG02132.hp1
HG02145.hp1
HG02559.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp2
NA19043.hp2
NA19087.hp1
NA19240.hp1
 intron_variant MODIFIER c.1568+1651G>C
c.1568+1651G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15645476
chr12:15645517 T
T
 C
C
 3 a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0058
 3 HG01261.hp2
HG03471.hp1
NA18906.hp2
HG01261.hp2
HG03471.hp1
NA18906.hp2
 intron_variant MODIFIER c.1568+1610A>G
c.1568+1610A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15645517
chr12:15646148 T
T
 TGCTGACT
others(337): Show 
TGCTGACTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC
AGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCA
TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT
ACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACGGTT
TTAGCCGGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCGCCTCGGC
CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
 1 a0001c0002t0001g0053
a0001c0002t0001g0053
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.1568+978_1568+979i
others(346): Show 
c.1568+978_1568+979insGGCCGGGCGCGGTGGCTCACGCCTGTAA
TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATC
GAGACCATCCCGGCTAAAACCGTGAAACCCCGTCTCTACTAAAAATACAA
AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG
AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGA
GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG
TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAGAAAAGTCAGC
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15646148
chr12:15646308 T
T
 A
A
 1 a0001c0010t0004g0007
a0001c0010t0004g0007
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1568+819A>T
c.1568+819A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15646308
chr12:15646308 T
T
 C
C
 3 a0001c0002t0001g0035
a0001c0002t0001g0075
a0001c0002t0001g0080
a0001c0002t0001g0035
a0001c0002t0001g0075
a0001c0002t0001g0080
 3 HG02109.hp1
HG02451.hp2
HG03098.hp2
HG02109.hp1
HG02451.hp2
HG03098.hp2
 intron_variant MODIFIER c.1568+819A>G
c.1568+819A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15646308
chr12:15646393 C
C
 A
A
 8 a0001c0002t0005g0014
a0001c0003t0004g0030
a0001c0003t0004g0031
others(5): Show 
a0001c0002t0005g0014
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
 8 HG02109.hp2
HG02451.hp1
HG02622.hp2
others(5): Show 
HG02109.hp2
HG02451.hp1
HG02622.hp2
HG02630.hp1
HG03130.hp2
HG03139.hp1
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.1568+734G>T
c.1568+734G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15646393
chr12:15646679 C
C
 T
T
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.1568+448G>A
c.1568+448G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15646679
chr12:15646737 T
T
 G
G
 1 a0002c0004t0001g0098
a0002c0004t0001g0098
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.1568+390A>C
c.1568+390A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15646737
chr12:15646794 C
C
 T
T
 5 a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0069
others(2): Show 
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0003
 5 HG02055.hp1
HG02922.hp1
HG03486.hp1
others(2): Show 
HG02055.hp1
HG02922.hp1
HG03486.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.1568+333G>A
c.1568+333G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15646794
chr12:15646852 T
T
 C
C
 3 a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
 3 HG02451.hp1
HG02630.hp1
HG03139.hp1
HG02451.hp1
HG02630.hp1
HG03139.hp1
 intron_variant MODIFIER c.1568+275A>G
c.1568+275A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15646852
chr12:15646869 C
C
 T
T
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.1568+258G>A
c.1568+258G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15646869
chr12:15646878 C
C
 A
A
 101 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(98): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 101 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(98): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1568+249G>T
c.1568+249G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15646878
chr12:15646909 C
C
 T
T
 7 a0001c0002t0001g0035
a0001c0002t0001g0075
a0001c0002t0001g0080
others(4): Show 
a0001c0002t0001g0035
a0001c0002t0001g0075
a0001c0002t0001g0080
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
 7 HG02109.hp1
HG02451.hp2
HG02523.hp1
others(4): Show 
HG02109.hp1
HG02451.hp2
HG02523.hp1
HG02630.hp2
HG03041.hp2
HG03098.hp2
NA18944.hp1
 intron_variant MODIFIER c.1568+218G>A
c.1568+218G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 15/20 chr12 15646909
chr12:15647541 C
C
 A
A
 1 a0002c0004t0001g0098
a0002c0004t0001g0098
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.1435-281G>T
c.1435-281G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 14/20 chr12 15647541
chr12:15648121 T
T
 C
C
 3 a0001c0001t0001g0041
a0001c0001t0001g0089
a0001c0001t0010g0049
a0001c0001t0001g0041
a0001c0001t0001g0089
a0001c0001t0010g0049
 3 HG00738.hp2
NA19009.hp2
NA19063.hp2
HG00738.hp2
NA19009.hp2
NA19063.hp2
 intron_variant MODIFIER c.1435-861A>G
c.1435-861A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 14/20 chr12 15648121
chr12:15648146 G
G
 A
A
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.1435-886C>T
c.1435-886C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 14/20 chr12 15648146
chr12:15648146 G
G
 T
T
 1 a0001c0002t0001g0055
a0001c0002t0001g0055
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.1435-886C>A
c.1435-886C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 14/20 chr12 15648146
chr12:15648406 A
A
 G
G
 2 a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0025
a0001c0001t0001g0056
 2 HG00597.hp2
HG02132.hp1
HG00597.hp2
HG02132.hp1
 intron_variant MODIFIER c.1435-1146T>C
c.1435-1146T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 14/20 chr12 15648406
chr12:15648552 T
T
 A
A
 2 a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0001
a0001c0002t0003g0002
 2 HG01109.hp1
NA19240.hp2
HG01109.hp1
NA19240.hp2
 intron_variant MODIFIER c.1435-1292A>T
c.1435-1292A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 14/20 chr12 15648552
chr12:15648620 C
C
 T
T
 1 a0001c0001t0001g0021
a0001c0001t0001g0021
 1 HG01256.hp2
HG01256.hp2
 intron_variant MODIFIER c.1435-1360G>A
c.1435-1360G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 14/20 chr12 15648620
chr12:15648697 A
A
 G
G
 3 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
 3 HG01891.hp1
HG02886.hp1
HG03098.hp1
HG01891.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.1435-1437T>C
c.1435-1437T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 14/20 chr12 15648697
chr12:15648718 G
G
 T
T
 100 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(97): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 100 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(97): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1435-1458C>A
c.1435-1458C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 14/20 chr12 15648718
chr12:15648781 T
T
 A
A
 76 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(73): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0035
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0069
a0001c0002t0001g0075
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 76 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(73): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1435-1521A>T
c.1435-1521A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 14/20 chr12 15648781
chr12:15648865 C
C
 A
A
 46 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(43): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0022
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0047
a0001c0009t0001g0088
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 46 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(43): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01891.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02717.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
NA18906.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1435-1605G>T
c.1435-1605G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 14/20 chr12 15648865
chr12:15649622 A
A
 G
G
 1 a0001c0001t0002g0022
a0001c0001t0002g0022
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.1434+1201T>C
c.1434+1201T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 14/20 chr12 15649622
chr12:15649701 A
A
 T
T
 1 a0001c0002t0001g0055
a0001c0002t0001g0055
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.1434+1122T>A
c.1434+1122T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 14/20 chr12 15649701
chr12:15649871 T
T
 C
C
 1 a0001c0002t0001g0065
a0001c0002t0001g0065
 1 NA19087.hp1
NA19087.hp1
 intron_variant MODIFIER c.1434+952A>G
c.1434+952A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 14/20 chr12 15649871
chr12:15650098 A
A
 G
G
 3 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
 3 HG01891.hp1
HG02886.hp1
HG03098.hp1
HG01891.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.1434+725T>C
c.1434+725T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 14/20 chr12 15650098
chr12:15650259 T
T
 C
C
 8 a0001c0002t0005g0014
a0001c0003t0004g0030
a0001c0003t0004g0031
others(5): Show 
a0001c0002t0005g0014
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
 8 HG02109.hp2
HG02451.hp1
HG02622.hp2
others(5): Show 
HG02109.hp2
HG02451.hp1
HG02622.hp2
HG02630.hp1
HG03130.hp2
HG03139.hp1
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.1434+564A>G
c.1434+564A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 14/20 chr12 15650259
chr12:15650597 A
A
 G
G
 4 a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
others(1): Show 
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
 4 HG02523.hp1
HG02630.hp2
HG03041.hp2
others(1): Show 
HG02523.hp1
HG02630.hp2
HG03041.hp2
NA18944.hp1
 intron_variant MODIFIER c.1434+226T>C
c.1434+226T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 14/20 chr12 15650597
chr12:15650615 T
T
 A
A
 25 a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0058
others(22): Show 
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0078
a0001c0002t0001g0080
 25 HG01109.hp2
HG01261.hp2
HG02055.hp2
others(22): Show 
HG01109.hp2
HG01261.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02451.hp2
HG02559.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp2
NA19043.hp2
NA19087.hp1
NA19240.hp1
 intron_variant MODIFIER c.1434+208A>T
c.1434+208A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 14/20 chr12 15650615
chr12:15651058 T
T
 C
C
 71 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(68): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 71 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(68): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1251-52A>G
c.1251-52A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 13/20 chr12 15651058
chr12:15651222 T
T
 C
C
 1 a0001c0010t0004g0007
a0001c0010t0004g0007
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1251-216A>G
c.1251-216A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 13/20 chr12 15651222
chr12:15651259 C
C
 A
A
 1 a0001c0001t0001g0082
a0001c0001t0001g0082
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.1251-253G>T
c.1251-253G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 13/20 chr12 15651259
chr12:15651791 T
T
 C
C
 10 a0001c0001t0002g0026
a0001c0003t0004g0030
a0001c0003t0004g0031
others(7): Show 
a0001c0001t0002g0026
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
 10 HG02109.hp2
HG02258.hp1
HG02523.hp1
others(7): Show 
HG02109.hp2
HG02258.hp1
HG02523.hp1
HG02622.hp2
HG02630.hp2
HG03041.hp2
HG03130.hp2
HG06807.hp2
NA18944.hp1
NA19030.hp2
 intron_variant MODIFIER c.1251-785A>G
c.1251-785A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 13/20 chr12 15651791
chr12:15652083 C
C
 G
G
 1 a0001c0002t0001g0053
a0001c0002t0001g0053
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.1251-1077G>C
c.1251-1077G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 13/20 chr12 15652083
chr12:15652385 A
A
 G
G
 73 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(70): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 73 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(70): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1251-1379T>C
c.1251-1379T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 13/20 chr12 15652385
chr12:15652682 T
T
 C
C
 4 a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
others(1): Show 
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
 4 HG02523.hp1
HG02630.hp2
HG03041.hp2
others(1): Show 
HG02523.hp1
HG02630.hp2
HG03041.hp2
NA18944.hp1
 intron_variant MODIFIER c.1250+1463A>G
c.1250+1463A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 13/20 chr12 15652682
chr12:15652688 A
A
 G
G
 3 a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
 3 HG02451.hp1
HG02630.hp1
HG03139.hp1
HG02451.hp1
HG02630.hp1
HG03139.hp1
 intron_variant MODIFIER c.1250+1457T>C
c.1250+1457T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 13/20 chr12 15652688
chr12:15652909 C
C
 A
A
 3 a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0058
 3 HG01261.hp2
HG03471.hp1
NA18906.hp2
HG01261.hp2
HG03471.hp1
NA18906.hp2
 intron_variant MODIFIER c.1250+1236G>T
c.1250+1236G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 13/20 chr12 15652909
chr12:15652934 T
T
 C
C
 25 a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0058
others(22): Show 
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0078
a0001c0002t0001g0080
 25 HG01109.hp2
HG01261.hp2
HG02055.hp2
others(22): Show 
HG01109.hp2
HG01261.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02451.hp2
HG02559.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp2
NA19043.hp2
NA19087.hp1
NA19240.hp1
 intron_variant MODIFIER c.1250+1211A>G
c.1250+1211A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 13/20 chr12 15652934
chr12:15652972 A
A
 G
G
 1 a0001c0002t0005g0014
a0001c0002t0005g0014
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1250+1173T>C
c.1250+1173T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 13/20 chr12 15652972
chr12:15653166 T
T
 C
C
 100 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(97): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 100 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(97): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1250+979A>G
c.1250+979A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 13/20 chr12 15653166
chr12:15653642 G
G
 A
A
 2 a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0002t0008g0023
a0001c0002t0008g0051
 2 HG00733.hp1
HG03041.hp1
HG00733.hp1
HG03041.hp1
 intron_variant MODIFIER c.1250+503C>T
c.1250+503C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 13/20 chr12 15653642
chr12:15653740 T
T
 C
C
 52 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(49): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0047
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 52 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(49): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01891.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03471.hp2
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1250+405A>G
c.1250+405A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 13/20 chr12 15653740
chr12:15653803 G
G
 A
A
 3 a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
 3 HG02451.hp1
HG02630.hp1
HG03139.hp1
HG02451.hp1
HG02630.hp1
HG03139.hp1
 intron_variant MODIFIER c.1250+342C>T
c.1250+342C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 13/20 chr12 15653803
chr12:15653823 G
G
 A
A
 45 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(42): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0047
a0001c0009t0001g0088
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 45 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(42): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01891.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02717.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
NA18906.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1250+322C>T
c.1250+322C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 13/20 chr12 15653823
chr12:15653990 A
A
 G
G
 4 a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
others(1): Show 
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
 4 HG02523.hp1
HG02630.hp2
HG03041.hp2
others(1): Show 
HG02523.hp1
HG02630.hp2
HG03041.hp2
NA18944.hp1
 intron_variant MODIFIER c.1250+155T>C
c.1250+155T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 13/20 chr12 15653990
chr12:15654433 T
T
 C
C
 73 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(70): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 73 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(70): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1102-140A>G
c.1102-140A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15654433
chr12:15654862 T
T
 C
C
 73 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(70): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 73 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(70): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1102-569A>G
c.1102-569A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15654862
chr12:15654869 T
T
 G
G
 3 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
 3 HG01891.hp1
HG02886.hp1
HG03098.hp1
HG01891.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.1102-576A>C
c.1102-576A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15654869
chr12:15655005 G
G
 C
C
 3 a0001c0002t0001g0053
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0001g0053
a0001c0002t0003g0001
a0001c0002t0003g0002
 3 HG01109.hp1
HG01884.hp2
NA19240.hp2
HG01109.hp1
HG01884.hp2
NA19240.hp2
 intron_variant MODIFIER c.1102-712C>G
c.1102-712C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15655005
chr12:15655273 G
G
 C
C
 100 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(97): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 100 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(97): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1102-980C>G
c.1102-980C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15655273
chr12:15655472 C
C
 T
T
 3 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
 3 HG01891.hp1
HG02886.hp1
HG03098.hp1
HG01891.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.1102-1179G>A
c.1102-1179G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15655472
chr12:15655487 T
T
 G
G
 1 a0001c0001t0007g0084
a0001c0001t0007g0084
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.1102-1194A>C
c.1102-1194A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15655487
chr12:15655523 G
G
 A
A
 3 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
 3 HG01891.hp1
HG02886.hp1
HG03098.hp1
HG01891.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.1102-1230C>T
c.1102-1230C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15655523
chr12:15655786 G
G
 A
A
 45 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(42): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0047
a0001c0009t0001g0088
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 45 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(42): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01891.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02717.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
NA18906.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1102-1493C>T
c.1102-1493C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15655786
chr12:15655789 C
C
 T
T
 45 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(42): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0047
a0001c0009t0001g0088
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 45 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(42): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01891.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02717.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
NA18906.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1102-1496G>A
c.1102-1496G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15655789
chr12:15655830 G
G
 A
A
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.1102-1537C>T
c.1102-1537C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15655830
chr12:15655881 T
T
 C
C
 18 a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
others(15): Show 
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0078
a0001c0002t0001g0080
 18 HG01109.hp2
HG02055.hp2
HG02109.hp1
others(15): Show 
HG01109.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02451.hp2
HG02559.hp2
HG02717.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA19043.hp2
NA19240.hp1
 intron_variant MODIFIER c.1102-1588A>G
c.1102-1588A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15655881
chr12:15656233 TG
TG
 T
T
 46 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(43): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0022
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0047
a0001c0009t0001g0088
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 46 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(43): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01891.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02717.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
NA18906.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1101+1845delC
c.1101+1845delC
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15656233
chr12:15656417 T
T
 C
C
 5 a0001c0002t0001g0053
a0001c0002t0003g0001
a0001c0002t0003g0002
others(2): Show 
a0001c0002t0001g0053
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0008g0023
a0001c0002t0008g0051
 5 HG00733.hp1
HG01109.hp1
HG01884.hp2
others(2): Show 
HG00733.hp1
HG01109.hp1
HG01884.hp2
HG03041.hp1
NA19240.hp2
 intron_variant MODIFIER c.1101+1662A>G
c.1101+1662A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15656417
chr12:15656730 C
C
 T
T
 46 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(43): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0022
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0047
a0001c0009t0001g0088
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 46 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(43): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01891.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02717.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
NA18906.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1101+1349G>A
c.1101+1349G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15656730
chr12:15656938 A
A
 G
G
 2 a0001c0002t0001g0053
a0001c0010t0004g0007
a0001c0002t0001g0053
a0001c0010t0004g0007
 2 HG01884.hp2
HG03471.hp2
HG01884.hp2
HG03471.hp2
 intron_variant MODIFIER c.1101+1141T>C
c.1101+1141T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15656938
chr12:15656957 C
C
 T
T
 5 a0001c0001t0002g0026
a0002c0004t0001g0062
a0002c0004t0001g0079
others(2): Show 
a0001c0001t0002g0026
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
 5 HG02258.hp1
HG02523.hp1
HG02630.hp2
others(2): Show 
HG02258.hp1
HG02523.hp1
HG02630.hp2
HG03041.hp2
NA18944.hp1
 intron_variant MODIFIER c.1101+1122G>A
c.1101+1122G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15656957
chr12:15656991 C
C
 A
A
 3 a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
 3 HG02451.hp1
HG02630.hp1
HG03139.hp1
HG02451.hp1
HG02630.hp1
HG03139.hp1
 intron_variant MODIFIER c.1101+1088G>T
c.1101+1088G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15656991
chr12:15657011 A
A
 G
G
 2 a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0062
a0002c0004t0001g0079
 2 HG02630.hp2
HG03041.hp2
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.1101+1068T>C
c.1101+1068T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15657011
chr12:15657100 A
A
 G
G
 3 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
 3 HG01891.hp1
HG02886.hp1
HG03098.hp1
HG01891.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.1101+979T>C
c.1101+979T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15657100
chr12:15657145 C
C
 G
G
 1 a0001c0001t0007g0093
a0001c0001t0007g0093
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1101+934G>C
c.1101+934G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15657145
chr12:15657250 C
C
 G
G
 5 a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
others(2): Show 
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
 5 HG02109.hp2
HG02622.hp2
HG03130.hp2
others(2): Show 
HG02109.hp2
HG02622.hp2
HG03130.hp2
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.1101+829G>C
c.1101+829G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15657250
chr12:15657263 G
G
 A
A
 3 a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0058
 3 HG01261.hp2
HG03471.hp1
NA18906.hp2
HG01261.hp2
HG03471.hp1
NA18906.hp2
 intron_variant MODIFIER c.1101+816C>T
c.1101+816C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15657263
chr12:15657442 G
G
 A
A
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.1101+637C>T
c.1101+637C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15657442
chr12:15657764 C
C
 T
T
 1 a0002c0004t0001g0081
a0002c0004t0001g0081
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.1101+315G>A
c.1101+315G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15657764
chr12:15657778 C
C
 G
G
 1 a0001c0001t0002g0026
a0001c0001t0002g0026
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.1101+301G>C
c.1101+301G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15657778
chr12:15657847 T
T
 C
C
 1 a0001c0001t0001g0095
a0001c0001t0001g0095
 1 HG01256.hp1
HG01256.hp1
 intron_variant MODIFIER c.1101+232A>G
c.1101+232A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15657847
chr12:15657961 G
G
 T
T
 2 a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0012
a0001c0001t0002g0013
 2 HG02886.hp1
HG03098.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.1101+118C>A
c.1101+118C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 12/20 chr12 15657961
chr12:15658308 T
T
 C
C
 2 a0001c0001t0001g0005
a0001c0001t0001g0086
a0001c0001t0001g0005
a0001c0001t0001g0086
 2 HG02300.hp1
HG03831.hp2
HG02300.hp1
HG03831.hp2
 intron_variant MODIFIER c.1027-155A>G
c.1027-155A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 11/20 chr12 15658308
chr12:15658717 C
C
 T
T
 1 a0001c0001t0001g0036
a0001c0001t0001g0036
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.938-132G>A
c.938-132G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 10/20 chr12 15658717
chr12:15658771 G
G
 A
A
 2 a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0025
a0001c0001t0001g0056
 2 HG00597.hp2
HG02132.hp1
HG00597.hp2
HG02132.hp1
 intron_variant MODIFIER c.938-186C>T
c.938-186C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 10/20 chr12 15658771
chr12:15659070 T
T
 C
C
 5 a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
others(2): Show 
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
 5 HG02109.hp2
HG02622.hp2
HG03130.hp2
others(2): Show 
HG02109.hp2
HG02622.hp2
HG03130.hp2
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.938-485A>G
c.938-485A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 10/20 chr12 15659070
chr12:15659243 A
A
 G
G
 4 a0001c0001t0001g0029
a0001c0001t0001g0059
a0001c0001t0001g0082
others(1): Show 
a0001c0001t0001g0029
a0001c0001t0001g0059
a0001c0001t0001g0082
a0004c0008t0001g0028
 4 HG00738.hp1
HG01071.hp1
HG02300.hp2
others(1): Show 
HG00738.hp1
HG01071.hp1
HG02300.hp2
HG03017.hp2
 intron_variant MODIFIER c.938-658T>C
c.938-658T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 10/20 chr12 15659243
chr12:15659254 C
C
 T
T
 46 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(43): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0022
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0047
a0001c0009t0001g0088
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 46 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(43): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01891.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02717.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
NA18906.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.938-669G>A
c.938-669G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 10/20 chr12 15659254
chr12:15659641 C
C
 T
T
 68 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(65): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 68 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(65): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.937+973G>A
c.937+973G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 10/20 chr12 15659641
chr12:15659713 A
A
 G
G
 70 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(67): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 70 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(67): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.937+901T>C
c.937+901T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 10/20 chr12 15659713
chr12:15659728 T
T
 A
A
 3 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
 3 HG01891.hp1
HG02886.hp1
HG03098.hp1
HG01891.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.937+886A>T
c.937+886A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 10/20 chr12 15659728
chr12:15659853 C
C
 T
T
 1 a0001c0001t0002g0026
a0001c0001t0002g0026
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.937+761G>A
c.937+761G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 10/20 chr12 15659853
chr12:15659864 G
G
 A
A
 10 a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0069
others(7): Show 
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0003
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
 10 HG02055.hp1
HG02109.hp2
HG02622.hp2
others(7): Show 
HG02055.hp1
HG02109.hp2
HG02622.hp2
HG02922.hp1
HG03130.hp2
HG03486.hp1
HG06807.hp2
NA19030.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.937+750C>T
c.937+750C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 10/20 chr12 15659864
chr12:15659988 T
T
 C
C
 6 a0001c0001t0002g0026
a0001c0010t0004g0007
a0002c0004t0001g0062
others(3): Show 
a0001c0001t0002g0026
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
 6 HG02258.hp1
HG02523.hp1
HG02630.hp2
others(3): Show 
HG02258.hp1
HG02523.hp1
HG02630.hp2
HG03041.hp2
HG03471.hp2
NA18944.hp1
 intron_variant MODIFIER c.937+626A>G
c.937+626A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 10/20 chr12 15659988
chr12:15660238 T
T
 C
C
 100 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(97): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 100 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(97): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.937+376A>G
c.937+376A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 10/20 chr12 15660238
chr12:15660244 T
T
 A
A
 100 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(97): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 100 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(97): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.937+370A>T
c.937+370A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 10/20 chr12 15660244
chr12:15660873 A
A
 G
G
 2 a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0025
a0001c0001t0001g0056
 2 HG00597.hp2
HG02132.hp1
HG00597.hp2
HG02132.hp1
 intron_variant MODIFIER c.811-133T>C
c.811-133T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 9/20 chr12 15660873
chr12:15660971 A
A
 G
G
 4 a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
others(1): Show 
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
 4 HG02523.hp1
HG02630.hp2
HG03041.hp2
others(1): Show 
HG02523.hp1
HG02630.hp2
HG03041.hp2
NA18944.hp1
 intron_variant MODIFIER c.811-231T>C
c.811-231T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 9/20 chr12 15660971
chr12:15660979 T
T
 C
C
 22 a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
others(19): Show 
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0078
a0001c0002t0001g0080
 22 HG01109.hp2
HG02055.hp2
HG02109.hp1
others(19): Show 
HG01109.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02451.hp2
HG02559.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA19043.hp2
NA19087.hp1
NA19240.hp1
 intron_variant MODIFIER c.811-239A>G
c.811-239A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 9/20 chr12 15660979
chr12:15660985 C
C
 T
T
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.811-245G>A
c.811-245G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 9/20 chr12 15660985
chr12:15661344 T
T
 C
C
 3 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
 3 HG01891.hp1
HG02886.hp1
HG03098.hp1
HG01891.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.811-604A>G
c.811-604A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 9/20 chr12 15661344
chr12:15661347 G
G
 C
C
 1 a0001c0001t0002g0022
a0001c0001t0002g0022
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.811-607C>G
c.811-607C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 9/20 chr12 15661347
chr12:15661355 C
C
 G
G
 1 a0001c0001t0001g0099
a0001c0001t0001g0099
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.811-615G>C
c.811-615G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 9/20 chr12 15661355
chr12:15661575 T
T
 A
A
 2 a0001c0001t0001g0025
a0001c0001t0001g0056
a0001c0001t0001g0025
a0001c0001t0001g0056
 2 HG00597.hp2
HG02132.hp1
HG00597.hp2
HG02132.hp1
 intron_variant MODIFIER c.810+451A>T
c.810+451A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 9/20 chr12 15661575
chr12:15661824 T
T
 C
C
 45 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(42): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0047
a0001c0009t0001g0088
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 45 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(42): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01891.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02717.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
NA18906.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.810+202A>G
c.810+202A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 9/20 chr12 15661824
chr12:15661867 T
T
 C
C
 6 a0001c0001t0002g0026
a0001c0010t0004g0007
a0002c0004t0001g0062
others(3): Show 
a0001c0001t0002g0026
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
 6 HG02258.hp1
HG02523.hp1
HG02630.hp2
others(3): Show 
HG02258.hp1
HG02523.hp1
HG02630.hp2
HG03041.hp2
HG03471.hp2
NA18944.hp1
 intron_variant MODIFIER c.810+159A>G
c.810+159A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 9/20 chr12 15661867
chr12:15662597 A
A
 T
T
 1 a0001c0009t0001g0088
a0001c0009t0001g0088
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.737-498T>A
c.737-498T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15662597
chr12:15662720 TG
TG
 T
T
 46 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(43): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0022
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0047
a0001c0009t0001g0088
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 46 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(43): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01891.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02717.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
NA18906.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.737-622delC
c.737-622delC
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15662720
chr12:15662728 A
A
 G
G
 3 a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
 3 HG02451.hp1
HG02630.hp1
HG03139.hp1
HG02451.hp1
HG02630.hp1
HG03139.hp1
 intron_variant MODIFIER c.737-629T>C
c.737-629T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15662728
chr12:15662803 A
A
 C
C
 67 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(64): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 67 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(64): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03486.hp1
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.737-704T>G
c.737-704T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15662803
chr12:15662853 C
C
 T
T
 10 a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0069
others(7): Show 
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0003
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
 10 HG02055.hp1
HG02109.hp2
HG02622.hp2
others(7): Show 
HG02055.hp1
HG02109.hp2
HG02622.hp2
HG02922.hp1
HG03130.hp2
HG03486.hp1
HG06807.hp2
NA19030.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.737-754G>A
c.737-754G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15662853
chr12:15662946 T
T
 C
C
 3 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
 3 HG01891.hp1
HG02886.hp1
HG03098.hp1
HG01891.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.737-847A>G
c.737-847A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15662946
chr12:15662999 CA
CA
 C
C
 86 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(83): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 86 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(83): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.737-901delT
c.737-901delT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15662999
chr12:15663101 C
C
 G
G
 3 a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0058
 3 HG01261.hp2
HG03471.hp1
NA18906.hp2
HG01261.hp2
HG03471.hp1
NA18906.hp2
 intron_variant MODIFIER c.737-1002G>C
c.737-1002G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663101
chr12:15663202 C
C
 A
A
 2 a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0001
a0001c0002t0003g0002
 2 HG01109.hp1
NA19240.hp2
HG01109.hp1
NA19240.hp2
 intron_variant MODIFIER c.737-1103G>T
c.737-1103G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663202
chr12:15663237 C
C
 T
T
 4 a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
others(1): Show 
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
 4 HG02523.hp1
HG02630.hp2
HG03041.hp2
others(1): Show 
HG02523.hp1
HG02630.hp2
HG03041.hp2
NA18944.hp1
 intron_variant MODIFIER c.737-1138G>A
c.737-1138G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663237
chr12:15663249 G
G
 T
T
 73 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(70): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 73 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(70): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.737-1150C>A
c.737-1150C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663249
chr12:15663356 G
G
 A
A
 73 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(70): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 73 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(70): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.737-1257C>T
c.737-1257C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663356
chr12:15663376 A
A
 G
G
 100 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(97): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 100 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(97): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.737-1277T>C
c.737-1277T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663376
chr12:15663570 C
C
 T
T
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.737-1471G>A
c.737-1471G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663570
chr12:15663658 C
C
 A
A
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.737-1559G>T
c.737-1559G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663658
chr12:15663706 C
C
 T
T
 2 a0001c0001t0001g0019
a0001c0001t0003g0004
a0001c0001t0001g0019
a0001c0001t0003g0004
 2 HG02622.hp1
NA18906.hp1
HG02622.hp1
NA18906.hp1
 intron_variant MODIFIER c.737-1607G>A
c.737-1607G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663706
chr12:15663741 A
A
 G
G
 73 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(70): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 73 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(70): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.737-1642T>C
c.737-1642T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663741
chr12:15663836 C
C
 T
T
 1 a0001c0001t0002g0022
a0001c0001t0002g0022
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.737-1737G>A
c.737-1737G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663836
chr12:15663920 CA
CA
 C
C
 11 a0001c0001t0001g0020
a0001c0001t0001g0056
a0001c0002t0001g0037
others(8): Show 
a0001c0001t0001g0020
a0001c0001t0001g0056
a0001c0002t0001g0037
a0001c0002t0001g0048
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0078
 11 HG01261.hp2
HG02055.hp2
HG02132.hp1
others(8): Show 
HG01261.hp2
HG02055.hp2
HG02132.hp1
HG02559.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG03139.hp2
HG03486.hp2
NA19043.hp2
NA19087.hp1
 intron_variant MODIFIER c.737-1822delT
c.737-1822delT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663920
chr12:15663934 A
A
 T
T
 1 a0001c0002t0001g0047
a0001c0002t0001g0047
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.736+1822T>A
c.736+1822T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663934
chr12:15663935 A
A
 AATAATAA
others(4): Show 
AATAATAATAAT
 6 a0001c0001t0001g0024
a0001c0001t0001g0085
a0001c0001t0001g0087
others(3): Show 
a0001c0001t0001g0024
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0009g0057
 6 HG00733.hp2
HG01261.hp1
HG02258.hp2
others(3): Show 
HG00733.hp2
HG01261.hp1
HG02258.hp2
HG03579.hp2
HG06807.hp1
NA19087.hp2
 intron_variant MODIFIER c.736+1820_736+1821i
others(13): Show 
c.736+1820_736+1821insATTATTATTAT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663935
chr12:15663935 A
A
 ATAAT
ATAAT
 2 a0001c0002t0001g0006
a0001c0002t0001g0053
a0001c0002t0001g0006
a0001c0002t0001g0053
 2 HG01884.hp2
HG02922.hp1
HG01884.hp2
HG02922.hp1
 intron_variant MODIFIER c.736+1820_736+1821i
others(6): Show 
c.736+1820_736+1821insATTA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663935
chr12:15663938 A
A
 AAATAATA
others(5): Show 
AAATAATAATAAT
 1 a0001c0001t0001g0102
a0001c0001t0001g0102
 1 NA19063.hp1
NA19063.hp1
 intron_variant MODIFIER c.736+1817_736+1818i
others(14): Show 
c.736+1817_736+1818insATTATTATTATT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663938
chr12:15663938 A
A
 AATAATAA
others(1): Show 
AATAATAAT
 5 a0001c0001t0001g0021
a0001c0001t0001g0027
a0001c0001t0001g0036
others(2): Show 
a0001c0001t0001g0021
a0001c0001t0001g0027
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0045
 5 HG01256.hp2
HG01891.hp2
HG02145.hp2
others(2): Show 
HG01256.hp2
HG01891.hp2
HG02145.hp2
HG02965.hp1
NA18978.hp1
 intron_variant MODIFIER c.736+1817_736+1818i
others(10): Show 
c.736+1817_736+1818insATTATTAT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663938
chr12:15663938 A
A
 AATAATAA
others(4): Show 
AATAATAATAAT
 14 a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0029
others(11): Show 
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0029
a0001c0001t0001g0059
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0086
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0094
a0001c0001t0001g0099
a0001c0001t0007g0084
a0001c0009t0001g0088
a0004c0008t0001g0028
 14 HG00597.hp1
HG00738.hp1
HG00738.hp2
others(11): Show 
HG00597.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01243.hp1
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02622.hp1
HG03017.hp1
HG03516.hp2
HG03831.hp1
NA18944.hp2
NA19043.hp1
 intron_variant MODIFIER c.736+1817_736+1818i
others(13): Show 
c.736+1817_736+1818insATTATTATTAT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663938
chr12:15663938 A
A
 ATAAT
ATAAT
 2 a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0002t0008g0023
a0001c0002t0008g0051
 2 HG00733.hp1
HG03041.hp1
HG00733.hp1
HG03041.hp1
 intron_variant MODIFIER c.736+1817_736+1818i
others(6): Show 
c.736+1817_736+1818insATTA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663938
chr12:15663938 A
A
 ATAATAAT
others(3): Show 
ATAATAATAAT
 1 a0001c0001t0003g0004
a0001c0001t0003g0004
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.736+1817_736+1818i
others(12): Show 
c.736+1817_736+1818insATTATTATTA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663938
chr12:15663938 A
A
 T
T
 16 a0001c0001t0001g0024
a0001c0001t0001g0042
a0001c0001t0001g0064
others(13): Show 
a0001c0001t0001g0024
a0001c0001t0001g0042
a0001c0001t0001g0064
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0101
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0009g0057
a0001c0002t0001g0006
a0001c0002t0001g0053
a0001c0002t0003g0002
 16 HG00733.hp2
HG01071.hp2
HG01261.hp1
others(13): Show 
HG00733.hp2
HG01071.hp2
HG01261.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02258.hp2
HG02886.hp1
HG02922.hp1
HG03098.hp1
HG03579.hp2
HG06807.hp1
NA18978.hp2
NA19009.hp1
NA19087.hp2
NA19240.hp2
 intron_variant MODIFIER c.736+1818T>A
c.736+1818T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663938
chr12:15663939 A
A
 ATT
ATT
 2 a0002c0004t0001g0081
a0002c0004t0001g0098
a0002c0004t0001g0081
a0002c0004t0001g0098
 2 HG02523.hp1
NA18944.hp1
HG02523.hp1
NA18944.hp1
 intron_variant MODIFIER c.736+1816_736+1817i
others(4): Show 
c.736+1816_736+1817insAA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663939
chr12:15663941 A
A
 AATAATAA
others(4): Show 
AATAATAATAAT
 8 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0082
others(5): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0092
a0001c0001t0001g0100
a0003c0006t0001g0046
a0003c0006t0001g0091
 8 HG00621.hp1
HG00621.hp2
HG01243.hp2
others(5): Show 
HG00621.hp1
HG00621.hp2
HG01243.hp2
HG02132.hp2
HG02523.hp2
HG03017.hp2
HG03831.hp2
NA19062.hp2
 intron_variant MODIFIER c.736+1814_736+1815i
others(13): Show 
c.736+1814_736+1815insATTATTATTAT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663941
chr12:15663941 A
A
 ATAATAAT
others(3): Show 
ATAATAATAAT
 3 a0001c0001t0001g0018
a0001c0001t0001g0041
a0001c0001t0010g0049
a0001c0001t0001g0018
a0001c0001t0001g0041
a0001c0001t0010g0049
 3 HG02717.hp2
NA19009.hp2
NA19063.hp2
HG02717.hp2
NA19009.hp2
NA19063.hp2
 intron_variant MODIFIER c.736+1814_736+1815i
others(12): Show 
c.736+1814_736+1815insATTATTATTA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663941
chr12:15663941 A
A
 T
T
 46 a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
others(43): Show 
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0009g0057
a0001c0002t0001g0006
a0001c0002t0001g0053
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0009t0001g0088
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0004c0008t0001g0028
 46 HG00597.hp1
HG00733.hp1
HG00733.hp2
others(43): Show 
HG00597.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp1
HG02622.hp1
HG02630.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG06807.hp1
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19043.hp1
NA19063.hp1
NA19087.hp2
NA19240.hp2
 intron_variant MODIFIER c.736+1815T>A
c.736+1815T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663941
chr12:15663942 A
A
 T
T
 3 a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
 3 HG02451.hp1
HG02630.hp1
HG03139.hp1
HG02451.hp1
HG02630.hp1
HG03139.hp1
 intron_variant MODIFIER c.736+1814T>A
c.736+1814T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663942
chr12:15663944 A
A
 AAAAT
AAAAT
 4 a0001c0002t0001g0032
a0001c0002t0001g0069
a0001c0002t0001g0077
others(1): Show 
a0001c0002t0001g0032
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0003
 4 HG02055.hp1
HG03486.hp1
NA19030.hp1
others(1): Show 
HG02055.hp1
HG03486.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.736+1811_736+1812i
others(6): Show 
c.736+1811_736+1812insATTT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663944
chr12:15663944 A
A
 AATAATAA
others(4): Show 
AATAATAATAAT
 2 a0001c0001t0007g0093
a0001c0002t0001g0047
a0001c0001t0007g0093
a0001c0002t0001g0047
 2 NA19062.hp1
homoSapiens_chm13v2.hp1
NA19062.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.736+1811_736+1812i
others(13): Show 
c.736+1811_736+1812insATTATTATTAT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663944
chr12:15663944 A
A
 ATAAT
ATAAT
 2 a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0004g0031
a0001c0003t0004g0039
 2 HG02109.hp2
HG03130.hp2
HG02109.hp2
HG03130.hp2
 intron_variant MODIFIER c.736+1811_736+1812i
others(6): Show 
c.736+1811_736+1812insATTA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663944
chr12:15663944 A
A
 T
T
 60 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(57): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0053
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0006g0044
a0001c0009t0001g0088
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 60 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(57): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.736+1812T>A
c.736+1812T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663944
chr12:15663944 AAATAATA
others(3): Show 
AAATAATATAT
 A
A
 10 a0001c0001t0001g0058
a0001c0002t0001g0008
a0001c0002t0001g0010
others(7): Show 
a0001c0001t0001g0058
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0035
a0001c0002t0001g0040
a0001c0002t0001g0061
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0075
 10 HG01109.hp2
HG02109.hp1
HG02145.hp1
others(7): Show 
HG01109.hp2
HG02109.hp1
HG02145.hp1
HG02451.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03130.hp1
HG03516.hp1
NA18906.hp2
 intron_variant MODIFIER c.736+1802_736+1811d
others(12): Show 
c.736+1802_736+1811delATATATTATT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663944
chr12:15663945 A
A
 T
T
 4 a0001c0002t0001g0050
a0001c0002t0005g0014
a0001c0005t0005g0033
others(1): Show 
a0001c0002t0001g0050
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
 4 HG02451.hp1
HG02630.hp1
HG02976.hp1
others(1): Show 
HG02451.hp1
HG02630.hp1
HG02976.hp1
HG03139.hp1
 intron_variant MODIFIER c.736+1811T>A
c.736+1811T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663945
chr12:15663945 AATAATAT
others(4): Show 
AATAATATATAT
 A
A
 1 a0001c0001t0001g0011
a0001c0001t0001g0011
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.736+1800_736+1810d
others(13): Show 
c.736+1800_736+1810delATATATATTAT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663945
chr12:15663946 ATAATATA
others(5): Show 
ATAATATATATAT
 A
A
 1 a0001c0002t0001g0050
a0001c0002t0001g0050
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.736+1798_736+1809d
others(14): Show 
c.736+1798_736+1809delATATATATATTA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663946
chr12:15663947 T
T
 A
A
 3 a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
 3 HG02451.hp1
HG02630.hp1
HG03139.hp1
HG02451.hp1
HG02630.hp1
HG03139.hp1
 intron_variant MODIFIER c.736+1809A>T
c.736+1809A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663947
chr12:15663948 A
A
 T
T
 3 a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
 3 HG02451.hp1
HG02630.hp1
HG03139.hp1
HG02451.hp1
HG02630.hp1
HG03139.hp1
 intron_variant MODIFIER c.736+1808T>A
c.736+1808T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663948
chr12:15663948 AATATATA
others(3): Show 
AATATATATAT
 A
A
 13 a0001c0001t0001g0020
a0001c0002t0001g0034
a0001c0002t0001g0037
others(10): Show 
a0001c0001t0001g0020
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0048
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0076
a0001c0002t0001g0078
a0001c0002t0001g0080
 13 HG01261.hp2
HG02055.hp2
HG02559.hp2
others(10): Show 
HG01261.hp2
HG02055.hp2
HG02559.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG03098.hp2
HG03139.hp2
HG03486.hp2
HG03579.hp1
NA19043.hp2
NA19087.hp1
NA19240.hp1
 intron_variant MODIFIER c.736+1798_736+1807d
others(12): Show 
c.736+1798_736+1807delATATATATAT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663948
chr12:15663950 T
T
 TA
TA
 11 a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0064
others(8): Show 
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0064
a0001c0001t0001g0095
a0001c0001t0002g0022
a0001c0002t0001g0006
a0001c0002t0001g0053
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0006g0044
 11 HG00733.hp1
HG01071.hp2
HG01256.hp1
others(8): Show 
HG00733.hp1
HG01071.hp2
HG01256.hp1
HG01884.hp1
HG01884.hp2
HG02622.hp2
HG02922.hp1
HG03041.hp1
HG06807.hp2
NA18978.hp1
NA19009.hp1
 intron_variant MODIFIER c.736+1805dupT
c.736+1805dupT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663950
chr12:15663950 T
T
 TAATAATA
others(3): Show 
TAATAATAATA
 1 a0001c0001t0001g0101
a0001c0001t0001g0101
 1 NA18978.hp2
NA18978.hp2
 intron_variant MODIFIER c.736+1805_736+1806i
others(12): Show 
c.736+1805_736+1806insTATTATTATT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663950
chr12:15663951 A
A
 AAT
AAT
 7 a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0032
others(4): Show 
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0032
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0001
a0001c0002t0003g0002
 7 HG01109.hp1
HG02886.hp1
HG03098.hp1
others(4): Show 
HG01109.hp1
HG02886.hp1
HG03098.hp1
HG03486.hp1
NA19030.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.736+1804_736+1805i
others(4): Show 
c.736+1804_736+1805insAT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663951
chr12:15663952 T
T
 A
A
 12 a0001c0002t0001g0032
a0001c0002t0001g0069
a0001c0002t0001g0077
others(9): Show 
a0001c0002t0001g0032
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0066
a0001c0010t0004g0007
a0002c0004t0001g0081
a0002c0004t0001g0098
 12 HG01109.hp1
HG02055.hp1
HG02109.hp2
others(9): Show 
HG01109.hp1
HG02055.hp1
HG02109.hp2
HG02523.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp1
NA18944.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.736+1804A>T
c.736+1804A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663952
chr12:15663953 A
A
 T
T
 7 a0001c0002t0003g0003
a0001c0003t0004g0031
a0001c0003t0004g0039
others(4): Show 
a0001c0002t0003g0003
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0066
a0001c0010t0004g0007
a0002c0004t0001g0081
a0002c0004t0001g0098
 7 HG02055.hp1
HG02109.hp2
HG02523.hp1
others(4): Show 
HG02055.hp1
HG02109.hp2
HG02523.hp1
HG03130.hp2
HG03471.hp2
NA18944.hp1
NA19030.hp2
 intron_variant MODIFIER c.736+1803T>A
c.736+1803T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663953
chr12:15663954 T
T
 A
A
 13 a0001c0002t0001g0006
a0001c0002t0001g0053
a0001c0002t0003g0003
others(10): Show 
a0001c0002t0001g0006
a0001c0002t0001g0053
a0001c0002t0003g0003
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0010t0004g0007
a0002c0004t0001g0081
a0002c0004t0001g0098
 13 HG00733.hp1
HG01884.hp2
HG02055.hp1
others(10): Show 
HG00733.hp1
HG01884.hp2
HG02055.hp1
HG02109.hp2
HG02523.hp1
HG02622.hp2
HG02922.hp1
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG06807.hp2
NA18944.hp1
NA19030.hp2
 intron_variant MODIFIER c.736+1802A>T
c.736+1802A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663954
chr12:15663955 A
A
 T
T
 1 a0001c0003t0004g0030
a0001c0003t0004g0030
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.736+1801T>A
c.736+1801T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663955
chr12:15663956 T
T
 A
A
 3 a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0003t0004g0030
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0003t0004g0030
 3 HG01109.hp1
HG02622.hp2
NA19240.hp2
HG01109.hp1
HG02622.hp2
NA19240.hp2
 intron_variant MODIFIER c.736+1800A>T
c.736+1800A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663956
chr12:15663957 AT
AT
 A
A
 10 a0001c0001t0001g0058
a0001c0002t0001g0008
a0001c0002t0001g0010
others(7): Show 
a0001c0001t0001g0058
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0035
a0001c0002t0001g0040
a0001c0002t0001g0061
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0075
 10 HG01109.hp2
HG02109.hp1
HG02145.hp1
others(7): Show 
HG01109.hp2
HG02109.hp1
HG02145.hp1
HG02451.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03130.hp1
HG03516.hp1
NA18906.hp2
 intron_variant MODIFIER c.736+1798delA
c.736+1798delA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663957
chr12:15663972 T
T
 C
C
 1 a0001c0001t0002g0022
a0001c0001t0002g0022
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.736+1784A>G
c.736+1784A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663972
chr12:15663974 T
T
 C
C
 18 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(15): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0064
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0047
 18 HG00597.hp1
HG01071.hp2
HG01243.hp2
others(15): Show 
HG00597.hp1
HG01071.hp2
HG01243.hp2
HG01256.hp1
HG01261.hp1
HG01884.hp1
HG02258.hp1
HG02523.hp2
HG02622.hp1
HG02717.hp2
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19043.hp1
NA19062.hp1
NA19063.hp1
NA19087.hp2
 intron_variant MODIFIER c.736+1782A>G
c.736+1782A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663974
chr12:15663974 T
T
 TAC
TAC
 20 a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0041
others(17): Show 
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0089
a0001c0001t0001g0094
a0001c0001t0001g0100
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0009t0001g0088
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 20 HG00621.hp1
HG00621.hp2
HG00738.hp1
others(17): Show 
HG00621.hp1
HG00621.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01243.hp1
HG01256.hp2
HG02132.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG03017.hp1
HG03017.hp2
HG03516.hp2
HG03831.hp1
NA19009.hp2
NA19063.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.736+1781_736+1782i
others(4): Show 
c.736+1781_736+1782insGT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663974
chr12:15663976 T
T
 C
C
 50 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(47): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0032
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 50 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(47): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02132.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02717.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03831.hp1
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA19240.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.736+1780A>G
c.736+1780A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663976
chr12:15663976 T
T
 TAC
TAC
 2 a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0062
a0002c0004t0001g0079
 2 HG02630.hp2
HG03041.hp2
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.736+1778_736+1779d
others(4): Show 
c.736+1778_736+1779dupGT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663976
chr12:15663976 T
T
 TACAC
TACAC
 8 a0001c0001t0001g0005
a0001c0001t0001g0024
a0001c0001t0001g0027
others(5): Show 
a0001c0001t0001g0005
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0083
a0001c0001t0001g0087
a0001c0001t0003g0004
 8 HG00733.hp2
HG01891.hp2
HG02145.hp2
others(5): Show 
HG00733.hp2
HG01891.hp2
HG02145.hp2
HG02965.hp1
HG03579.hp2
HG03831.hp2
NA18906.hp1
NA19062.hp2
 intron_variant MODIFIER c.736+1776_736+1779d
others(6): Show 
c.736+1776_736+1779dupGTGT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663976
chr12:15663976 T
T
 TACACAC
TACACAC
 3 a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
 3 HG02451.hp1
HG02630.hp1
HG03139.hp1
HG02451.hp1
HG02630.hp1
HG03139.hp1
 intron_variant MODIFIER c.736+1774_736+1779d
others(8): Show 
c.736+1774_736+1779dupGTGTGT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663976
chr12:15663976 T
T
 TATATACA
others(3): Show 
TATATACACAC
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.736+1779_736+1780i
others(12): Show 
c.736+1779_736+1780insGTGTGTATAT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663976
chr12:15663976 T
T
 TATATATA
others(5): Show 
TATATATACACAC
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.736+1779_736+1780i
others(14): Show 
c.736+1779_736+1780insGTGTGTATATAT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15663976
chr12:15664283 AT
AT
 A
A
 6 a0001c0001t0001g0020
a0001c0001t0001g0058
a0002c0004t0001g0062
others(3): Show 
a0001c0001t0001g0020
a0001c0001t0001g0058
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
 6 HG01261.hp2
HG02523.hp1
HG02630.hp2
others(3): Show 
HG01261.hp2
HG02523.hp1
HG02630.hp2
HG03041.hp2
NA18906.hp2
NA18944.hp1
 intron_variant MODIFIER c.736+1472delA
c.736+1472delA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15664283
chr12:15664627 C
C
 T
T
 4 a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
others(1): Show 
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
 4 HG02523.hp1
HG02630.hp2
HG03041.hp2
others(1): Show 
HG02523.hp1
HG02630.hp2
HG03041.hp2
NA18944.hp1
 intron_variant MODIFIER c.736+1129G>A
c.736+1129G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15664627
chr12:15664694 A
A
 G
G
 3 a0001c0002t0001g0035
a0001c0002t0001g0075
a0001c0002t0001g0080
a0001c0002t0001g0035
a0001c0002t0001g0075
a0001c0002t0001g0080
 3 HG02109.hp1
HG02451.hp2
HG03098.hp2
HG02109.hp1
HG02451.hp2
HG03098.hp2
 intron_variant MODIFIER c.736+1062T>C
c.736+1062T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15664694
chr12:15664699 C
C
 T
T
 19 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
others(16): Show 
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0026
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0053
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
 19 HG01109.hp1
HG01884.hp2
HG01891.hp1
others(16): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp1
HG02258.hp1
HG02451.hp1
HG02523.hp1
HG02630.hp1
HG02630.hp2
HG02886.hp1
HG02922.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03486.hp1
NA18944.hp1
NA19030.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.736+1057G>A
c.736+1057G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15664699
chr12:15664761 C
C
 T
T
 3 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
 3 HG01891.hp1
HG02886.hp1
HG03098.hp1
HG01891.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.736+995G>A
c.736+995G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15664761
chr12:15664773 G
G
 A
A
 4 a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
others(1): Show 
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
 4 HG02523.hp1
HG02630.hp2
HG03041.hp2
others(1): Show 
HG02523.hp1
HG02630.hp2
HG03041.hp2
NA18944.hp1
 intron_variant MODIFIER c.736+983C>T
c.736+983C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15664773
chr12:15664838 T
T
 C
C
 101 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(98): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 101 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(98): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.736+918A>G
c.736+918A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15664838
chr12:15664851 A
A
 G
G
 2 a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0067
a0001c0001t0001g0068
 2 HG02559.hp1
HG03516.hp2
HG02559.hp1
HG03516.hp2
 intron_variant MODIFIER c.736+905T>C
c.736+905T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15664851
chr12:15664934 T
T
 C
C
 1 a0001c0001t0002g0026
a0001c0001t0002g0026
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.736+822A>G
c.736+822A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15664934
chr12:15665001 AG
AG
 A
A
 4 a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
others(1): Show 
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
 4 HG02523.hp1
HG02630.hp2
HG03041.hp2
others(1): Show 
HG02523.hp1
HG02630.hp2
HG03041.hp2
NA18944.hp1
 intron_variant MODIFIER c.736+754delC
c.736+754delC
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15665001
chr12:15665334 A
A
 AT
AT
 5 a0001c0001t0002g0022
a0001c0002t0001g0032
a0001c0002t0001g0069
others(2): Show 
a0001c0001t0002g0022
a0001c0002t0001g0032
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0003g0003
 5 HG01884.hp1
HG02055.hp1
HG03486.hp1
others(2): Show 
HG01884.hp1
HG02055.hp1
HG03486.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.736+421dupA
c.736+421dupA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15665334
chr12:15665641 T
T
 C
C
 1 a0001c0001t0002g0026
a0001c0001t0002g0026
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.736+115A>G
c.736+115A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15665641
chr12:15665682 C
C
 T
T
 1 a0001c0001t0002g0026
a0001c0001t0002g0026
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.736+74G>A
c.736+74G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 8/20 chr12 15665682
chr12:15665946 T
T
 A
A
 45 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(42): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0047
a0001c0009t0001g0088
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 45 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(42): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01891.hp2
HG02132.hp2
HG02145.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02717.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
NA18906.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.600-54A>T
c.600-54A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 7/20 chr12 15665946
chr12:15666913 A
A
 G
G
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.517-391T>C
c.517-391T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15666913
chr12:15666955 C
C
 G
G
 3 a0001c0002t0001g0078
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0001g0078
a0001c0002t0003g0001
a0001c0002t0003g0002
 3 HG01109.hp1
HG02717.hp1
NA19240.hp2
HG01109.hp1
HG02717.hp1
NA19240.hp2
 intron_variant MODIFIER c.517-433G>C
c.517-433G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15666955
chr12:15666976 C
C
 T
T
 2 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0002g0022
a0001c0001t0002g0026
 2 HG01884.hp1
HG02258.hp1
HG01884.hp1
HG02258.hp1
 intron_variant MODIFIER c.517-454G>A
c.517-454G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15666976
chr12:15666979 C
C
 T
T
 2 a0001c0001t0001g0059
a0001c0001t0001g0097
a0001c0001t0001g0059
a0001c0001t0001g0097
 2 HG01261.hp1
HG02300.hp2
HG01261.hp1
HG02300.hp2
 intron_variant MODIFIER c.517-457G>A
c.517-457G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15666979
chr12:15667134 T
T
 C
C
 2 a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0005t0005g0033
a0001c0005t0005g0043
 2 HG02451.hp1
HG02630.hp1
HG02451.hp1
HG02630.hp1
 intron_variant MODIFIER c.517-612A>G
c.517-612A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15667134
chr12:15667212 G
G
 T
T
 13 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0059
others(10): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0059
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0096
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0040
a0001c0002t0001g0054
a0001c0010t0004g0007
 13 HG00597.hp2
HG00733.hp2
HG01884.hp1
others(10): Show 
HG00597.hp2
HG00733.hp2
HG01884.hp1
HG02258.hp1
HG02300.hp2
HG02559.hp1
HG02922.hp1
HG02976.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp2
NA19043.hp2
NA19087.hp2
 intron_variant MODIFIER c.517-690C>A
c.517-690C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15667212
chr12:15667233 G
G
 A
A
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.517-711C>T
c.517-711C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15667233
chr12:15667277 G
G
 A
A
 3 a0001c0001t0001g0096
a0001c0002t0001g0047
a0001c0009t0001g0088
a0001c0001t0001g0096
a0001c0002t0001g0047
a0001c0009t0001g0088
 3 HG03017.hp1
NA19062.hp1
NA19087.hp2
HG03017.hp1
NA19062.hp1
NA19087.hp2
 intron_variant MODIFIER c.517-755C>T
c.517-755C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15667277
chr12:15667293 T
T
 C
C
 4 a0001c0001t0001g0027
a0001c0001t0003g0004
a0001c0002t0001g0054
others(1): Show 
a0001c0001t0001g0027
a0001c0001t0003g0004
a0001c0002t0001g0054
a0001c0002t0005g0014
 4 HG01891.hp2
HG03139.hp1
NA18906.hp1
others(1): Show 
HG01891.hp2
HG03139.hp1
NA18906.hp1
NA19043.hp2
 intron_variant MODIFIER c.517-771A>G
c.517-771A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15667293
chr12:15667363 T
T
 C
C
 14 a0001c0001t0001g0005
a0001c0001t0001g0020
a0001c0001t0001g0021
others(11): Show 
a0001c0001t0001g0005
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0042
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0083
a0001c0001t0001g0086
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0009g0057
a0002c0004t0001g0081
 14 HG01256.hp2
HG01261.hp2
HG02132.hp1
others(11): Show 
HG01256.hp2
HG01261.hp2
HG02132.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02886.hp1
HG03098.hp1
HG03831.hp2
NA18906.hp2
NA18944.hp1
NA19009.hp1
NA19062.hp2
NA20300.hp2
 intron_variant MODIFIER c.517-841A>G
c.517-841A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15667363
chr12:15667425 A
A
 C
C
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.517-903T>G
c.517-903T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15667425
chr12:15667474 G
G
 A
A
 93 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(90): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 93 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(90): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.517-952C>T
c.517-952C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15667474
chr12:15667609 T
T
 C
C
 3 a0001c0001t0002g0022
a0001c0001t0002g0026
a0002c0004t0001g0081
a0001c0001t0002g0022
a0001c0001t0002g0026
a0002c0004t0001g0081
 3 HG01884.hp1
HG02258.hp1
NA18944.hp1
HG01884.hp1
HG02258.hp1
NA18944.hp1
 intron_variant MODIFIER c.517-1087A>G
c.517-1087A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15667609
chr12:15667612 T
T
 C
C
 1 a0001c0010t0004g0007
a0001c0010t0004g0007
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.517-1090A>G
c.517-1090A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15667612
chr12:15667841 G
G
 A
A
 6 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(3): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0002t0008g0023
a0001c0002t0008g0051
 6 HG00733.hp1
HG01243.hp2
HG02622.hp1
others(3): Show 
HG00733.hp1
HG01243.hp2
HG02622.hp1
HG02717.hp2
HG03041.hp1
NA19043.hp1
 intron_variant MODIFIER c.517-1319C>T
c.517-1319C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15667841
chr12:15667991 G
G
 T
T
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.516+1396C>A
c.516+1396C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15667991
chr12:15668181 A
A
 G
G
 12 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
others(9): Show 
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0009g0057
a0001c0002t0001g0032
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0010t0004g0007
 12 HG01109.hp1
HG01891.hp1
HG02258.hp2
others(9): Show 
HG01109.hp1
HG01891.hp1
HG02258.hp2
HG02451.hp1
HG02630.hp1
HG02818.hp1
HG02886.hp1
HG03098.hp1
HG03139.hp1
HG03471.hp2
HG03486.hp1
NA19240.hp2
 intron_variant MODIFIER c.516+1206T>C
c.516+1206T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15668181
chr12:15668222 T
T
 C
C
 5 a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
others(2): Show 
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0073
a0001c0002t0001g0074
 5 HG01109.hp2
HG02055.hp2
HG02922.hp1
others(2): Show 
HG01109.hp2
HG02055.hp2
HG02922.hp1
HG03130.hp1
HG03139.hp2
 intron_variant MODIFIER c.516+1165A>G
c.516+1165A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15668222
chr12:15668253 C
C
 A
A
 1 a0001c0002t0001g0048
a0001c0002t0001g0048
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.516+1134G>T
c.516+1134G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15668253
chr12:15668253 C
C
 T
T
 2 a0001c0001t0001g0029
a0004c0008t0001g0028
a0001c0001t0001g0029
a0004c0008t0001g0028
 2 HG00738.hp1
HG01071.hp1
HG00738.hp1
HG01071.hp1
 intron_variant MODIFIER c.516+1134G>A
c.516+1134G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15668253
chr12:15668679 A
A
 G
G
 8 a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
others(5): Show 
a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0083
a0001c0001t0001g0086
a0002c0004t0001g0081
 8 HG01256.hp2
HG02132.hp1
HG02300.hp1
others(5): Show 
HG01256.hp2
HG02132.hp1
HG02300.hp1
HG03831.hp2
NA18944.hp1
NA19009.hp1
NA19062.hp2
NA20300.hp2
 intron_variant MODIFIER c.516+708T>C
c.516+708T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15668679
chr12:15668780 T
T
 C
C
 5 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(2): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0002t0008g0051
 5 HG00733.hp1
HG01243.hp2
HG02622.hp1
others(2): Show 
HG00733.hp1
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.516+607A>G
c.516+607A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15668780
chr12:15668944 T
T
 C
C
 5 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(2): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0002t0008g0051
 5 HG00733.hp1
HG01243.hp2
HG02622.hp1
others(2): Show 
HG00733.hp1
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.516+443A>G
c.516+443A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15668944
chr12:15669295 A
A
 C
C
 99 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(96): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 99 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(96): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.516+92T>G
c.516+92T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15669295
chr12:15669310 T
T
 C
C
 63 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0020
others(60): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0010g0049
a0001c0002t0001g0035
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0003
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0009t0001g0088
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 63 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(60): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp2
HG02630.hp2
HG02717.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03471.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.516+77A>G
c.516+77A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15669310
chr12:15669381 T
T
 C
C
 10 a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0038
others(7): Show 
a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0003t0006g0066
 10 HG00733.hp2
HG02145.hp2
HG02559.hp2
others(7): Show 
HG00733.hp2
HG02145.hp2
HG02559.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03486.hp2
NA19030.hp2
NA19240.hp1
 splice_region_variant&intron_variant LOW c.516+6A>G
c.516+6A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 6/20 chr12 15669381
chr12:15669833 T
T
 C
C
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 HG01071.hp1
HG01071.hp1
 splice_region_variant&intron_variant LOW c.205-8A>G
c.205-8A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 4/20 chr12 15669833
chr12:15670167 T
T
 C
C
 5 a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
others(2): Show 
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0073
a0001c0002t0001g0074
 5 HG01109.hp2
HG02055.hp2
HG02922.hp1
others(2): Show 
HG01109.hp2
HG02055.hp2
HG02922.hp1
HG03130.hp1
HG03139.hp2
 intron_variant MODIFIER c.205-342A>G
c.205-342A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 4/20 chr12 15670167
chr12:15670679 C
C
 T
T
 8 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(5): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0002t0008g0051
 8 HG00733.hp1
HG01243.hp2
HG01884.hp1
others(5): Show 
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02258.hp1
HG02622.hp1
HG02717.hp2
HG03041.hp1
NA19043.hp1
 intron_variant MODIFIER c.204+177G>A
c.204+177G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 4/20 chr12 15670679
chr12:15671298 A
A
 C
C
 1 a0001c0001t0001g0089
a0001c0001t0001g0089
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.137-375T>G
c.137-375T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15671298
chr12:15671485 A
A
 G
G
 25 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0036
others(22): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0009g0057
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0005g0014
a0001c0003t0006g0066
a0001c0010t0004g0007
 25 HG00597.hp2
HG00733.hp2
HG01109.hp1
others(22): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp1
HG01109.hp2
HG01891.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp2
HG02559.hp2
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
NA19030.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.137-562T>C
c.137-562T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15671485
chr12:15671681 C
C
 T
T
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.137-758G>A
c.137-758G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15671681
chr12:15671887 T
T
 A
A
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.137-964A>T
c.137-964A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15671887
chr12:15671904 C
C
 T
T
 25 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0036
others(22): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0009g0057
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0005g0014
a0001c0003t0006g0066
a0001c0010t0004g0007
 25 HG00597.hp2
HG00733.hp2
HG01109.hp1
others(22): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp1
HG01109.hp2
HG01891.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp2
HG02559.hp2
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
NA19030.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.137-981G>A
c.137-981G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15671904
chr12:15671940 G
G
 A
A
 12 a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0038
others(9): Show 
a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0002g0009
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0003t0006g0066
 12 HG00733.hp2
HG01891.hp1
HG02145.hp2
others(9): Show 
HG00733.hp2
HG01891.hp1
HG02145.hp2
HG02559.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03486.hp1
HG03486.hp2
NA19030.hp2
NA19240.hp1
 intron_variant MODIFIER c.137-1017C>T
c.137-1017C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15671940
chr12:15672967 T
T
 C
C
 8 a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
others(5): Show 
a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0083
a0001c0001t0001g0086
a0002c0004t0001g0081
 8 HG01256.hp2
HG02132.hp1
HG02300.hp1
others(5): Show 
HG01256.hp2
HG02132.hp1
HG02300.hp1
HG03831.hp2
NA18944.hp1
NA19009.hp1
NA19062.hp2
NA20300.hp2
 intron_variant MODIFIER c.137-2044A>G
c.137-2044A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15672967
chr12:15673102 A
A
 G
G
 66 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0020
others(63): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0010g0049
a0001c0002t0001g0035
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0003
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 66 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(63): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02818.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03471.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.137-2179T>C
c.137-2179T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15673102
chr12:15673315 TTATAAA
TTATAAA
 T
T
 6 a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0009g0057
others(3): Show 
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0009g0057
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
 6 HG01109.hp1
HG02258.hp2
HG02886.hp1
others(3): Show 
HG01109.hp1
HG02258.hp2
HG02886.hp1
HG03098.hp1
HG03471.hp2
NA19240.hp2
 intron_variant MODIFIER c.137-2398_137-2393d
others(8): Show 
c.137-2398_137-2393delTTTATA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15673315
chr12:15673703 G
G
 T
T
 1 a0001c0002t0005g0014
a0001c0002t0005g0014
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.137-2780C>A
c.137-2780C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15673703
chr12:15673715 C
C
 G
G
 25 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0036
others(22): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0009g0057
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0005g0014
a0001c0003t0006g0066
a0001c0010t0004g0007
 25 HG00597.hp2
HG00733.hp2
HG01109.hp1
others(22): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp1
HG01109.hp2
HG01891.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp2
HG02559.hp2
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
NA19030.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.137-2792G>C
c.137-2792G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15673715
chr12:15673729 T
T
 C
C
 63 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0020
others(60): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0010g0049
a0001c0002t0001g0035
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0003
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0009t0001g0088
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 63 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(60): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp2
HG02630.hp2
HG02717.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03471.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.137-2806A>G
c.137-2806A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15673729
chr12:15673749 T
T
 C
C
 5 a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
others(2): Show 
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0073
a0001c0002t0001g0074
 5 HG01109.hp2
HG02055.hp2
HG02922.hp1
others(2): Show 
HG01109.hp2
HG02055.hp2
HG02922.hp1
HG03130.hp1
HG03139.hp2
 intron_variant MODIFIER c.137-2826A>G
c.137-2826A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15673749
chr12:15674203 C
C
 T
T
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.137-3280G>A
c.137-3280G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15674203
chr12:15674312 A
A
 G
G
 6 a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0009g0057
others(3): Show 
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0009g0057
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
 6 HG01109.hp1
HG02258.hp2
HG02886.hp1
others(3): Show 
HG01109.hp1
HG02258.hp2
HG02886.hp1
HG03098.hp1
HG03471.hp2
NA19240.hp2
 intron_variant MODIFIER c.137-3389T>C
c.137-3389T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15674312
chr12:15674787 T
T
 C
C
 1 a0001c0002t0005g0014
a0001c0002t0005g0014
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.137-3864A>G
c.137-3864A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15674787
chr12:15674852 T
T
 TA
TA
 99 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(96): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 99 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(96): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.137-3930dupT
c.137-3930dupT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15674852
chr12:15674878 T
T
 C
C
 91 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0020
others(88): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 91 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(88): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.137-3955A>G
c.137-3955A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15674878
chr12:15675406 C
C
 T
T
 6 a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0009g0057
others(3): Show 
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0009g0057
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
 6 HG01109.hp1
HG02258.hp2
HG02886.hp1
others(3): Show 
HG01109.hp1
HG02258.hp2
HG02886.hp1
HG03098.hp1
HG03471.hp2
NA19240.hp2
 intron_variant MODIFIER c.137-4483G>A
c.137-4483G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15675406
chr12:15676005 G
G
 A
A
 12 a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0038
others(9): Show 
a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0002g0009
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0003t0006g0066
 12 HG00733.hp2
HG01891.hp1
HG02145.hp2
others(9): Show 
HG00733.hp2
HG01891.hp1
HG02145.hp2
HG02559.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03486.hp1
HG03486.hp2
NA19030.hp2
NA19240.hp1
 intron_variant MODIFIER c.137-5082C>T
c.137-5082C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15676005
chr12:15676259 C
C
 CA
CA
 11 a0001c0001t0001g0005
a0001c0001t0001g0042
a0001c0001t0001g0045
others(8): Show 
a0001c0001t0001g0005
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0059
a0001c0001t0001g0068
a0001c0001t0001g0101
a0001c0002t0001g0040
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0070
a0001c0003t0004g0030
 11 HG02145.hp1
HG02300.hp2
HG02559.hp1
others(8): Show 
HG02145.hp1
HG02300.hp2
HG02559.hp1
HG02622.hp2
HG02886.hp2
HG02976.hp2
HG03831.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19087.hp1
 intron_variant MODIFIER c.136+4966dupT
c.136+4966dupT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15676259
chr12:15676259 CAA
CAA
 C
C
 5 a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
others(2): Show 
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0073
a0001c0002t0001g0074
 5 HG01109.hp2
HG02055.hp2
HG02922.hp1
others(2): Show 
HG01109.hp2
HG02055.hp2
HG02922.hp1
HG03130.hp1
HG03139.hp2
 intron_variant MODIFIER c.136+4965_136+4966d
others(4): Show 
c.136+4965_136+4966delTT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15676259
chr12:15676473 T
T
 A
A
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.136+4753A>T
c.136+4753A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15676473
chr12:15676509 C
C
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.136+4717G>A
c.136+4717G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15676509
chr12:15676549 C
C
 A
A
 13 a0001c0001t0001g0045
a0001c0001t0001g0085
a0001c0001t0001g0089
others(10): Show 
a0001c0001t0001g0045
a0001c0001t0001g0085
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0002t0001g0065
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
 13 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(10): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00738.hp2
HG01261.hp1
HG02132.hp2
HG02523.hp1
HG06807.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19063.hp1
NA19087.hp1
 intron_variant MODIFIER c.136+4677G>T
c.136+4677G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15676549
chr12:15677068 C
C
 G
G
 1 a0001c0002t0001g0053
a0001c0002t0001g0053
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.136+4158G>C
c.136+4158G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15677068
chr12:15677114 T
T
 C
C
 1 a0001c0001t0001g0067
a0001c0001t0001g0067
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.136+4112A>G
c.136+4112A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15677114
chr12:15677176 A
A
 C
C
 13 a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0038
others(10): Show 
a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0002g0009
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0005g0014
a0001c0003t0006g0066
 13 HG00733.hp2
HG01891.hp1
HG02145.hp2
others(10): Show 
HG00733.hp2
HG01891.hp1
HG02145.hp2
HG02559.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG03486.hp1
HG03486.hp2
NA19030.hp2
NA19240.hp1
 intron_variant MODIFIER c.136+4050T>G
c.136+4050T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15677176
chr12:15677278 G
G
 A
A
 2 a0001c0001t0003g0004
a0001c0002t0001g0054
a0001c0001t0003g0004
a0001c0002t0001g0054
 2 NA18906.hp1
NA19043.hp2
NA18906.hp1
NA19043.hp2
 intron_variant MODIFIER c.136+3948C>T
c.136+3948C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15677278
chr12:15677392 A
A
 G
G
 58 a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0027
others(55): Show 
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0045
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0010g0049
a0001c0002t0001g0035
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0003
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 58 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(55): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02818.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03471.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp2
NA19030.hp1
NA19043.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.136+3834T>C
c.136+3834T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15677392
chr12:15677549 T
T
 C
C
 8 a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
others(5): Show 
a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0083
a0001c0001t0001g0086
a0002c0004t0001g0081
 8 HG01256.hp2
HG02132.hp1
HG02300.hp1
others(5): Show 
HG01256.hp2
HG02132.hp1
HG02300.hp1
HG03831.hp2
NA18944.hp1
NA19009.hp1
NA19062.hp2
NA20300.hp2
 intron_variant MODIFIER c.136+3677A>G
c.136+3677A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15677549
chr12:15678178 A
A
 T
T
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.136+3048T>A
c.136+3048T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15678178
chr12:15678573 C
C
 T
T
 60 a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0027
others(57): Show 
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0045
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0010g0049
a0001c0002t0001g0035
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0003
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 60 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(57): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03471.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp2
NA19030.hp1
NA19043.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.136+2653G>A
c.136+2653G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15678573
chr12:15678796 C
C
 T
T
 58 a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0027
others(55): Show 
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0045
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0010g0049
a0001c0002t0001g0035
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0003
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 58 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(55): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02818.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03471.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp2
NA19030.hp1
NA19043.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.136+2430G>A
c.136+2430G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15678796
chr12:15678914 C
C
 CA
CA
 23 a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0038
others(20): Show 
a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0058
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0002g0009
a0001c0001t0009g0057
a0001c0002t0001g0032
a0001c0002t0001g0037
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0070
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0005g0014
a0001c0003t0006g0066
a0002c0004t0001g0062
a0002c0004t0001g0079
 23 HG00733.hp2
HG00738.hp2
HG01109.hp1
others(20): Show 
HG00733.hp2
HG00738.hp2
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp2
HG02559.hp2
HG02630.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03486.hp1
HG03486.hp2
HG03579.hp2
NA18906.hp2
NA19030.hp2
NA19240.hp2
 intron_variant MODIFIER c.136+2311dupT
c.136+2311dupT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15678914
chr12:15678971 C
C
 T
T
 23 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0036
others(20): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0002g0009
a0001c0001t0009g0057
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0005g0014
a0001c0003t0006g0066
a0001c0010t0004g0007
 23 HG00597.hp2
HG00733.hp2
HG01109.hp1
others(20): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp1
HG01109.hp2
HG01891.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp2
HG02559.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
NA19030.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.136+2255G>A
c.136+2255G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15678971
chr12:15679154 C
C
 T
T
 1 a0001c0001t0001g0085
a0001c0001t0001g0085
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.136+2072G>A
c.136+2072G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15679154
chr12:15679206 A
A
 G
G
 68 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0020
others(65): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0010g0049
a0001c0002t0001g0035
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0003
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 68 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(65): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03471.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.136+2020T>C
c.136+2020T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15679206
chr12:15679618 C
C
 T
T
 2 a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0036
a0001c0001t0001g0038
 2 HG02145.hp2
HG02965.hp1
HG02145.hp2
HG02965.hp1
 intron_variant MODIFIER c.136+1608G>A
c.136+1608G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15679618
chr12:15679827 T
T
 C
C
 17 a0001c0001t0001g0027
a0001c0001t0001g0041
a0001c0001t0003g0004
others(14): Show 
a0001c0001t0001g0027
a0001c0001t0001g0041
a0001c0001t0003g0004
a0001c0001t0010g0049
a0001c0002t0001g0035
a0001c0002t0001g0040
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0003g0003
 17 HG01891.hp2
HG02055.hp1
HG02109.hp1
others(14): Show 
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02451.hp2
HG02717.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp2
NA19063.hp2
NA20300.hp1
 intron_variant MODIFIER c.136+1399A>G
c.136+1399A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15679827
chr12:15679884 A
A
 G
G
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.136+1342T>C
c.136+1342T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15679884
chr12:15680629 T
T
 C
C
 1 a0001c0002t0005g0014
a0001c0002t0005g0014
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.136+597A>G
c.136+597A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15680629
chr12:15680654 A
A
 ATCT
ATCT
 13 a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0038
others(10): Show 
a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0002g0009
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0005g0014
a0001c0003t0006g0066
 13 HG00733.hp2
HG01891.hp1
HG02145.hp2
others(10): Show 
HG00733.hp2
HG01891.hp1
HG02145.hp2
HG02559.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG03486.hp1
HG03486.hp2
NA19030.hp2
NA19240.hp1
 intron_variant MODIFIER c.136+571_136+572ins
others(3): Show 
c.136+571_136+572insAGA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 3/20 chr12 15680654
chr12:15681305 G
G
 GTAA
GTAA
 12 a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0038
others(9): Show 
a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0092
a0001c0002t0001g0032
a0001c0002t0001g0037
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0003t0006g0066
a0002c0004t0001g0062
 12 HG00733.hp2
HG02145.hp2
HG02523.hp2
others(9): Show 
HG00733.hp2
HG02145.hp2
HG02523.hp2
HG02559.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp2
HG03486.hp1
HG03486.hp2
NA19030.hp2
 splice_region_variant&intron_variant LOW c.60-6_60-4dupTTA
c.60-6_60-4dupTTA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 2/20 chr12 15681305
chr12:15681305 G
G
 GTAATAA
GTAATAA
 7 a0001c0001t0001g0021
a0001c0001t0001g0025
a0001c0001t0001g0052
others(4): Show 
a0001c0001t0001g0021
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0005g0014
 7 HG00597.hp2
HG01256.hp2
HG01891.hp1
others(4): Show 
HG00597.hp2
HG01256.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03139.hp1
NA20300.hp2
 splice_region_variant&intron_variant LOW c.60-9_60-4dupTTATTA
c.60-9_60-4dupTTATTA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 2/20 chr12 15681305
chr12:15681305 GTAATAA
GTAATAA
 G
G
 6 a0001c0001t0001g0011
a0001c0002t0001g0006
a0001c0002t0001g0008
others(3): Show 
a0001c0001t0001g0011
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0073
a0001c0002t0001g0074
 6 HG01109.hp2
HG02055.hp2
HG02922.hp1
others(3): Show 
HG01109.hp2
HG02055.hp2
HG02922.hp1
HG03130.hp1
HG03139.hp2
HG03471.hp1
 splice_region_variant&intron_variant LOW c.60-9_60-4delTTATTA
c.60-9_60-4delTTATTA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 2/20 chr12 15681305
chr12:15681318 T
T
 A
A
 4 a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
others(1): Show 
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
 4 HG02109.hp2
HG02622.hp2
HG03130.hp2
others(1): Show 
HG02109.hp2
HG02622.hp2
HG03130.hp2
HG06807.hp2
 intron_variant MODIFIER c.60-16A>T
c.60-16A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 2/20 chr12 15681318
chr12:15681591 G
G
 A
A
 1 a0001c0001t0009g0057
a0001c0001t0009g0057
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.60-289C>T
c.60-289C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 2/20 chr12 15681591
chr12:15681716 G
G
 A
A
 3 a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0006g0044
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0006g0044
 3 HG02622.hp2
HG03130.hp2
HG06807.hp2
HG02622.hp2
HG03130.hp2
HG06807.hp2
 intron_variant MODIFIER c.60-414C>T
c.60-414C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 2/20 chr12 15681716
chr12:15681728 C
C
 CA
CA
 16 a0001c0001t0001g0005
a0001c0001t0001g0019
a0001c0001t0001g0027
others(13): Show 
a0001c0001t0001g0005
a0001c0001t0001g0019
a0001c0001t0001g0027
a0001c0001t0001g0056
a0001c0001t0001g0068
a0001c0001t0001g0083
a0001c0001t0001g0086
a0001c0001t0001g0090
a0001c0001t0001g0102
a0001c0001t0002g0013
a0001c0002t0001g0006
a0001c0002t0001g0070
a0001c0002t0001g0072
a0001c0002t0001g0077
a0001c0003t0004g0030
a0002c0004t0001g0081
 16 HG00597.hp1
HG01891.hp2
HG02132.hp1
others(13): Show 
HG00597.hp1
HG01891.hp2
HG02132.hp1
HG02145.hp1
HG02300.hp1
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02886.hp1
HG02922.hp1
HG03516.hp1
HG03831.hp2
NA18944.hp1
NA19062.hp2
NA19063.hp1
NA20300.hp1
 intron_variant MODIFIER c.60-427dupT
c.60-427dupT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 2/20 chr12 15681728
chr12:15681728 C
C
 CAA
CAA
 12 a0001c0001t0001g0011
a0001c0001t0001g0021
a0001c0001t0001g0036
others(9): Show 
a0001c0001t0001g0011
a0001c0001t0001g0021
a0001c0001t0001g0036
a0001c0001t0001g0042
a0001c0001t0001g0052
a0001c0001t0002g0012
a0001c0002t0001g0037
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0005g0014
 12 HG01256.hp2
HG02559.hp2
HG02818.hp2
others(9): Show 
HG01256.hp2
HG02559.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03471.hp1
HG03486.hp2
NA19009.hp1
NA20300.hp2
 intron_variant MODIFIER c.60-428_60-427dupTT
c.60-428_60-427dupTT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 2/20 chr12 15681728
chr12:15681728 C
C
 CAAA
CAAA
 6 a0001c0001t0001g0024
a0001c0001t0001g0038
a0001c0001t0002g0009
others(3): Show 
a0001c0001t0001g0024
a0001c0001t0001g0038
a0001c0001t0002g0009
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0003t0006g0066
 6 HG00733.hp2
HG01891.hp1
HG02145.hp2
others(3): Show 
HG00733.hp2
HG01891.hp1
HG02145.hp2
HG03486.hp1
NA19030.hp2
NA19240.hp1
 intron_variant MODIFIER c.60-429_60-427dupTT
others(1): Show 
c.60-429_60-427dupTTT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 2/20 chr12 15681728
chr12:15681728 CA
CA
 C
C
 4 a0001c0001t0003g0004
a0001c0002t0001g0040
a0001c0002t0001g0071
others(1): Show 
a0001c0001t0003g0004
a0001c0002t0001g0040
a0001c0002t0001g0071
a0002c0004t0001g0098
 4 HG02523.hp1
HG02965.hp2
HG02976.hp2
others(1): Show 
HG02523.hp1
HG02965.hp2
HG02976.hp2
NA18906.hp1
 intron_variant MODIFIER c.60-427delT
c.60-427delT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 2/20 chr12 15681728
chr12:15681888 G
G
 A
A
 4 a0001c0001t0009g0057
a0001c0002t0003g0001
a0001c0002t0003g0002
others(1): Show 
a0001c0001t0009g0057
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
 4 HG01109.hp1
HG02258.hp2
HG03471.hp2
others(1): Show 
HG01109.hp1
HG02258.hp2
HG03471.hp2
NA19240.hp2
 intron_variant MODIFIER c.60-586C>T
c.60-586C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 2/20 chr12 15681888
chr12:15681896 C
C
 A
A
 7 a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0002t0001g0006
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0073
a0001c0002t0001g0074
 7 HG00597.hp2
HG01109.hp2
HG02055.hp2
others(4): Show 
HG00597.hp2
HG01109.hp2
HG02055.hp2
HG02922.hp1
HG03130.hp1
HG03139.hp2
HG03471.hp1
 intron_variant MODIFIER c.60-594G>T
c.60-594G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 2/20 chr12 15681896
chr12:15681901 C
C
 T
T
 59 a0001c0001t0001g0020
a0001c0001t0001g0027
a0001c0001t0001g0029
others(56): Show 
a0001c0001t0001g0020
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0045
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0010g0049
a0001c0002t0001g0035
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0003
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 59 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(56): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp2
NA19030.hp1
NA19043.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.60-599G>A
c.60-599G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 2/20 chr12 15681901
chr12:15681942 G
G
 T
T
 1 a0001c0002t0005g0014
a0001c0002t0005g0014
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.60-640C>A
c.60-640C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 2/20 chr12 15681942
chr12:15682083 A
A
 G
G
 1 a0001c0001t0001g0041
a0001c0001t0001g0041
 1 NA19063.hp2
NA19063.hp2
 intron_variant MODIFIER c.60-781T>C
c.60-781T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 2/20 chr12 15682083
chr12:15682176 CTG
CTG
 C
C
 3 a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
 3 HG02451.hp1
HG02630.hp1
HG02818.hp1
HG02451.hp1
HG02630.hp1
HG02818.hp1
 intron_variant MODIFIER c.59+715_59+716delCA
c.59+715_59+716delCA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 2/20 chr12 15682176
chr12:15682364 A
A
 G
G
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.59+529T>C
c.59+529T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 2/20 chr12 15682364
chr12:15682390 A
A
 G
G
 1 a0001c0002t0005g0014
a0001c0002t0005g0014
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.59+503T>C
c.59+503T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 2/20 chr12 15682390
chr12:15682496 T
T
 G
G
 1 a0001c0002t0001g0055
a0001c0002t0001g0055
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.59+397A>C
c.59+397A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 2/20 chr12 15682496
chr12:15682604 T
T
 C
C
 1 a0001c0002t0001g0032
a0001c0002t0001g0032
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.59+289A>G
c.59+289A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 2/20 chr12 15682604
chr12:15682770 T
T
 C
C
 1 a0001c0001t0001g0042
a0001c0001t0001g0042
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.59+123A>G
c.59+123A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 2/20 chr12 15682770
chr12:15683144 T
T
 G
G
 1 a0001c0003t0006g0066
a0001c0003t0006g0066
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.-21-172A>C
c.-21-172A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15683144
chr12:15683250 T
T
 C
C
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-21-278A>G
c.-21-278A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15683250
chr12:15683359 A
A
 C
C
 10 a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0038
others(7): Show 
a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0003t0006g0066
 10 HG00733.hp2
HG02145.hp2
HG02559.hp2
others(7): Show 
HG00733.hp2
HG02145.hp2
HG02559.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03486.hp2
NA19030.hp2
NA19240.hp1
 intron_variant MODIFIER c.-21-387T>G
c.-21-387T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15683359
chr12:15683454 T
T
 C
C
 8 a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
others(5): Show 
a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0083
a0001c0001t0001g0086
a0002c0004t0001g0081
 8 HG01256.hp2
HG02132.hp1
HG02300.hp1
others(5): Show 
HG01256.hp2
HG02132.hp1
HG02300.hp1
HG03831.hp2
NA18944.hp1
NA19009.hp1
NA19062.hp2
NA20300.hp2
 intron_variant MODIFIER c.-21-482A>G
c.-21-482A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15683454
chr12:15683747 CT
CT
 C
C
 13 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(10): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0008g0023
a0001c0002t0008g0051
 13 HG00733.hp1
HG01109.hp2
HG01243.hp2
others(10): Show 
HG00733.hp1
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG02055.hp2
HG02258.hp1
HG02622.hp1
HG02717.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03471.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-776delA
c.-21-776delA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15683747
chr12:15684036 T
T
 C
C
 2 a0001c0001t0001g0029
a0004c0008t0001g0028
a0001c0001t0001g0029
a0004c0008t0001g0028
 2 HG00738.hp1
HG01071.hp1
HG00738.hp1
HG01071.hp1
 intron_variant MODIFIER c.-21-1064A>G
c.-21-1064A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15684036
chr12:15684091 G
G
 T
T
 3 a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
 3 HG01109.hp1
HG03471.hp2
NA19240.hp2
HG01109.hp1
HG03471.hp2
NA19240.hp2
 intron_variant MODIFIER c.-21-1119C>A
c.-21-1119C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15684091
chr12:15684147 G
G
 A
A
 3 a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
 3 HG02451.hp1
HG02630.hp1
HG02818.hp1
HG02451.hp1
HG02630.hp1
HG02818.hp1
 intron_variant MODIFIER c.-21-1175C>T
c.-21-1175C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15684147
chr12:15684284 G
G
 A
A
 9 a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0002t0001g0034
others(6): Show 
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0003t0006g0066
 9 HG02145.hp2
HG02559.hp2
HG02818.hp2
others(6): Show 
HG02145.hp2
HG02559.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03486.hp2
NA19030.hp2
NA19240.hp1
 intron_variant MODIFIER c.-21-1312C>T
c.-21-1312C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15684284
chr12:15684367 T
T
 A
A
 14 a0001c0001t0001g0045
a0001c0001t0001g0059
a0001c0001t0001g0085
others(11): Show 
a0001c0001t0001g0045
a0001c0001t0001g0059
a0001c0001t0001g0085
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0002t0001g0065
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
 14 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(11): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00738.hp2
HG01261.hp1
HG02132.hp2
HG02300.hp2
HG02523.hp1
HG06807.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19063.hp1
NA19087.hp1
 intron_variant MODIFIER c.-21-1395A>T
c.-21-1395A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15684367
chr12:15684474 A
A
 C
C
 10 a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0038
others(7): Show 
a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0003t0006g0066
 10 HG00733.hp2
HG02145.hp2
HG02559.hp2
others(7): Show 
HG00733.hp2
HG02145.hp2
HG02559.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03486.hp2
NA19030.hp2
NA19240.hp1
 intron_variant MODIFIER c.-21-1502T>G
c.-21-1502T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15684474
chr12:15684625 C
C
 T
T
 3 a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
 3 HG02451.hp1
HG02630.hp1
HG02818.hp1
HG02451.hp1
HG02630.hp1
HG02818.hp1
 intron_variant MODIFIER c.-21-1653G>A
c.-21-1653G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15684625
chr12:15684804 C
C
 A
A
 21 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0036
others(18): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0002g0009
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0037
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0010t0004g0007
 21 HG00597.hp2
HG00733.hp2
HG01109.hp1
others(18): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp1
HG01891.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp2
HG02630.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
NA19030.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.-21-1832G>T
c.-21-1832G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15684804
chr12:15685149 A
A
 G
G
 2 a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0073
a0001c0002t0001g0074
 2 HG02055.hp2
HG03139.hp2
HG02055.hp2
HG03139.hp2
 intron_variant MODIFIER c.-21-2177T>C
c.-21-2177T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15685149
chr12:15685220 C
C
 T
T
 99 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(96): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 99 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(96): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-2248G>A
c.-21-2248G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15685220
chr12:15685568 A
A
 C
C
 1 a0001c0002t0005g0014
a0001c0002t0005g0014
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.-21-2596T>G
c.-21-2596T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15685568
chr12:15685756 G
G
 A
A
 61 a0001c0001t0001g0005
a0001c0001t0001g0020
a0001c0001t0001g0021
others(58): Show 
a0001c0001t0001g0005
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0025
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0005g0014
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 61 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(58): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02622.hp2
HG02630.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03471.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-2784C>T
c.-21-2784C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15685756
chr12:15686286 G
G
 A
A
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-21-3314C>T
c.-21-3314C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15686286
chr12:15686460 A
A
 C
C
 14 a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0002t0001g0034
others(11): Show 
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0003t0006g0066
a0001c0010t0004g0007
 14 HG01109.hp1
HG02055.hp1
HG02145.hp2
others(11): Show 
HG01109.hp1
HG02055.hp1
HG02145.hp2
HG02451.hp2
HG02559.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03471.hp2
HG03486.hp2
NA19030.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.-21-3488T>G
c.-21-3488T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15686460
chr12:15686519 A
A
 C
C
 1 a0001c0002t0008g0023
a0001c0002t0008g0023
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.-21-3547T>G
c.-21-3547T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15686519
chr12:15687230 C
C
 T
T
 2 a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0006
a0001c0002t0001g0032
 2 HG02922.hp1
HG03486.hp1
HG02922.hp1
HG03486.hp1
 intron_variant MODIFIER c.-21-4258G>A
c.-21-4258G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15687230
chr12:15687285 T
T
 G
G
 74 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(71): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0025
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 74 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(71): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp1
HG02055.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-4313A>C
c.-21-4313A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15687285
chr12:15687452 C
C
 T
T
 9 a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
others(6): Show 
a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0083
a0001c0001t0001g0086
a0002c0004t0001g0081
 9 HG01256.hp2
HG02132.hp1
HG02300.hp1
others(6): Show 
HG01256.hp2
HG02132.hp1
HG02300.hp1
HG03831.hp2
NA18944.hp1
NA18978.hp1
NA19009.hp1
NA19062.hp2
NA20300.hp2
 intron_variant MODIFIER c.-21-4480G>A
c.-21-4480G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15687452
chr12:15687573 G
G
 C
C
 1 a0001c0002t0005g0014
a0001c0002t0005g0014
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.-21-4601C>G
c.-21-4601C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15687573
chr12:15687763 G
G
 A
A
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.-21-4791C>T
c.-21-4791C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15687763
chr12:15688180 G
G
 C
C
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-21-5208C>G
c.-21-5208C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15688180
chr12:15688432 A
A
 G
G
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.-21-5460T>C
c.-21-5460T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15688432
chr12:15688456 T
T
 G
G
 13 a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0067
others(10): Show 
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0003g0003
a0001c0003t0006g0066
 13 HG02055.hp1
HG02145.hp2
HG02451.hp2
others(10): Show 
HG02055.hp1
HG02145.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03486.hp2
HG03516.hp2
NA19030.hp2
NA19240.hp1
 intron_variant MODIFIER c.-21-5484A>C
c.-21-5484A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15688456
chr12:15688768 C
C
 G
G
 101 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(98): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 101 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(98): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-5796G>C
c.-21-5796G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15688768
chr12:15688823 G
G
 T
T
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-21-5851C>A
c.-21-5851C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15688823
chr12:15689354 C
C
 T
T
 1 a0001c0002t0001g0032
a0001c0002t0001g0032
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.-21-6382G>A
c.-21-6382G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15689354
chr12:15689354 CA
CA
 C
C
 45 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(42): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0009t0001g0088
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 45 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(42): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG02109.hp2
HG02132.hp2
HG02258.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp2
HG02886.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp2
HG03579.hp2
HG03831.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18978.hp2
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-6383delT
c.-21-6383delT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15689354
chr12:15689458 G
G
 A
A
 1 a0001c0002t0005g0014
a0001c0002t0005g0014
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.-21-6486C>T
c.-21-6486C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15689458
chr12:15689715 T
T
 C
C
 1 a0001c0002t0001g0032
a0001c0002t0001g0032
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.-21-6743A>G
c.-21-6743A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15689715
chr12:15690026 A
A
 AC
AC
 4 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
others(1): Show 
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
 4 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(1): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.-21-7055dupG
c.-21-7055dupG
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15690026
chr12:15690270 C
C
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-21-7298G>A
c.-21-7298G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15690270
chr12:15690277 C
C
 T
T
 54 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(51): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0025
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 54 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(51): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp1
HG02109.hp2
HG02132.hp2
HG02258.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03471.hp2
HG03579.hp2
HG03831.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18978.hp2
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-7305G>A
c.-21-7305G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15690277
chr12:15690300 C
C
 A
A
 1 a0001c0001t0007g0084
a0001c0001t0007g0084
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.-21-7328G>T
c.-21-7328G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15690300
chr12:15690431 C
C
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.-21-7459G>T
c.-21-7459G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15690431
chr12:15690562 A
A
 T
T
 1 a0001c0002t0005g0014
a0001c0002t0005g0014
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.-21-7590T>A
c.-21-7590T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15690562
chr12:15690582 G
G
 C
C
 3 a0001c0001t0001g0029
a0001c0001t0001g0100
a0004c0008t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0100
a0004c0008t0001g0028
 3 HG00738.hp1
HG01071.hp1
HG02132.hp2
HG00738.hp1
HG01071.hp1
HG02132.hp2
 intron_variant MODIFIER c.-21-7610C>G
c.-21-7610C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15690582
chr12:15690607 G
G
 A
A
 1 a0001c0002t0001g0061
a0001c0002t0001g0061
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.-21-7635C>T
c.-21-7635C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15690607
chr12:15690645 G
G
 A
A
 1 a0001c0002t0005g0014
a0001c0002t0005g0014
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.-21-7673C>T
c.-21-7673C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15690645
chr12:15690680 T
T
 A
A
 14 a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0002t0001g0034
others(11): Show 
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0003t0006g0066
a0001c0010t0004g0007
 14 HG01109.hp1
HG02055.hp1
HG02145.hp2
others(11): Show 
HG01109.hp1
HG02055.hp1
HG02145.hp2
HG02451.hp2
HG02559.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03471.hp2
HG03486.hp2
NA19030.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.-21-7708A>T
c.-21-7708A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15690680
chr12:15690718 T
T
 C
C
 45 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(42): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0009t0001g0088
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 45 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(42): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG02109.hp2
HG02132.hp2
HG02258.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp2
HG02886.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp2
HG03579.hp2
HG03831.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18978.hp2
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-7746A>G
c.-21-7746A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15690718
chr12:15690837 A
A
 C
C
 9 a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
others(6): Show 
a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0083
a0001c0001t0001g0086
a0002c0004t0001g0081
 9 HG01256.hp2
HG02132.hp1
HG02300.hp1
others(6): Show 
HG01256.hp2
HG02132.hp1
HG02300.hp1
HG03831.hp2
NA18944.hp1
NA18978.hp1
NA19009.hp1
NA19062.hp2
NA20300.hp2
 intron_variant MODIFIER c.-21-7865T>G
c.-21-7865T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15690837
chr12:15690848 T
T
 C
C
 2 a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0067
a0001c0001t0001g0068
 2 HG02559.hp1
HG03516.hp2
HG02559.hp1
HG03516.hp2
 intron_variant MODIFIER c.-21-7876A>G
c.-21-7876A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15690848
chr12:15690981 TA
TA
 T
T
 54 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(51): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0025
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 54 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(51): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp1
HG02109.hp2
HG02132.hp2
HG02258.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03471.hp2
HG03579.hp2
HG03831.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18978.hp2
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-8010delT
c.-21-8010delT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15690981
chr12:15691063 T
T
 C
C
 1 a0001c0002t0003g0002
a0001c0002t0003g0002
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.-21-8091A>G
c.-21-8091A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15691063
chr12:15691497 T
T
 G
G
 1 a0001c0002t0005g0014
a0001c0002t0005g0014
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.-21-8525A>C
c.-21-8525A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15691497
chr12:15691697 A
A
 T
T
 9 a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
others(6): Show 
a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0083
a0001c0001t0001g0086
a0002c0004t0001g0081
 9 HG01256.hp2
HG02132.hp1
HG02300.hp1
others(6): Show 
HG01256.hp2
HG02132.hp1
HG02300.hp1
HG03831.hp2
NA18944.hp1
NA18978.hp1
NA19009.hp1
NA19062.hp2
NA20300.hp2
 intron_variant MODIFIER c.-21-8725T>A
c.-21-8725T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15691697
chr12:15691830 G
G
 A
A
 1 a0001c0002t0005g0014
a0001c0002t0005g0014
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.-21-8858C>T
c.-21-8858C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15691830
chr12:15692319 G
G
 GT
GT
 10 a0001c0001t0001g0021
a0001c0001t0001g0042
a0001c0001t0001g0045
others(7): Show 
a0001c0001t0001g0021
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0005t0005g0043
 10 HG01256.hp2
HG02109.hp1
HG02145.hp1
others(7): Show 
HG01256.hp2
HG02109.hp1
HG02145.hp1
HG02630.hp1
HG03486.hp1
HG03579.hp1
NA18978.hp1
NA19009.hp1
NA19030.hp1
NA19240.hp1
 intron_variant MODIFIER c.-21-9348dupA
c.-21-9348dupA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15692319
chr12:15692319 G
G
 T
T
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-21-9347C>A
c.-21-9347C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15692319
chr12:15692319 GTT
GTT
 G
G
 7 a0001c0001t0001g0025
a0001c0001t0002g0013
a0001c0002t0001g0008
others(4): Show 
a0001c0001t0001g0025
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0005g0014
a0001c0010t0004g0007
 7 HG00597.hp2
HG01109.hp1
HG01109.hp2
others(4): Show 
HG00597.hp2
HG01109.hp1
HG01109.hp2
HG02886.hp1
HG03139.hp1
HG03471.hp2
NA19240.hp2
 intron_variant MODIFIER c.-21-9349_-21-9348d
others(4): Show 
c.-21-9349_-21-9348delAA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15692319
chr12:15692319 GTTT
GTTT
 G
G
 44 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(41): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0009t0001g0088
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 44 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(41): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG02109.hp2
HG02132.hp2
HG02258.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp2
HG02886.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp2
HG03579.hp2
HG03831.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18978.hp2
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19087.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-9350_-21-9348d
others(5): Show 
c.-21-9350_-21-9348delAAA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15692319
chr12:15692329 T
T
 G
G
 44 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(41): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0009t0001g0088
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 44 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(41): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG02109.hp2
HG02132.hp2
HG02258.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp2
HG02886.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp2
HG03579.hp2
HG03831.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18978.hp2
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19087.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-9357A>C
c.-21-9357A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15692329
chr12:15692510 A
A
 T
T
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.-21-9538T>A
c.-21-9538T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15692510
chr12:15692800 T
T
 C
C
 1 a0001c0009t0001g0088
a0001c0009t0001g0088
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.-21-9828A>G
c.-21-9828A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15692800
chr12:15692804 A
A
 G
G
 1 a0001c0002t0005g0014
a0001c0002t0005g0014
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.-21-9832T>C
c.-21-9832T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15692804
chr12:15693410 G
G
 A
A
 4 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
others(1): Show 
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
 4 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(1): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.-21-10438C>T
c.-21-10438C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15693410
chr12:15693908 A
A
 C
C
 3 a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
 3 HG01109.hp2
HG02886.hp1
HG03098.hp1
HG01109.hp2
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.-21-10936T>G
c.-21-10936T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15693908
chr12:15693950 T
T
 G
G
 75 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(72): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0025
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 75 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(72): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp1
HG02055.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-10978A>C
c.-21-10978A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15693950
chr12:15693999 C
C
 T
T
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.-21-11027G>A
c.-21-11027G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15693999
chr12:15694250 G
G
 A
A
 4 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
others(1): Show 
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
 4 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(1): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.-21-11278C>T
c.-21-11278C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15694250
chr12:15694568 TC
TC
 T
T
 55 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(52): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0025
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0005g0014
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 55 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(52): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp1
HG02109.hp2
HG02132.hp2
HG02258.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03471.hp2
HG03579.hp2
HG03831.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18978.hp2
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-11597delG
c.-21-11597delG
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15694568
chr12:15694573 A
A
 G
G
 3 a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
 3 HG01109.hp1
HG03471.hp2
NA19240.hp2
HG01109.hp1
HG03471.hp2
NA19240.hp2
 intron_variant MODIFIER c.-21-11601T>C
c.-21-11601T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15694573
chr12:15694576 A
A
 T
T
 4 a0001c0001t0001g0064
a0001c0001t0001g0095
a0001c0001t0007g0084
others(1): Show 
a0001c0001t0001g0064
a0001c0001t0001g0095
a0001c0001t0007g0084
a0001c0001t0007g0093
 4 HG01071.hp2
HG01243.hp1
HG01256.hp1
others(1): Show 
HG01071.hp2
HG01243.hp1
HG01256.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-11604T>A
c.-21-11604T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15694576
chr12:15694577 A
A
 T
T
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-21-11605T>A
c.-21-11605T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15694577
chr12:15694713 C
C
 G
G
 1 a0002c0004t0001g0081
a0002c0004t0001g0081
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.-21-11741G>C
c.-21-11741G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15694713
chr12:15695044 C
C
 T
T
 2 a0001c0001t0001g0058
a0001c0001t0009g0057
a0001c0001t0001g0058
a0001c0001t0009g0057
 2 HG02258.hp2
NA18906.hp2
HG02258.hp2
NA18906.hp2
 intron_variant MODIFIER c.-21-12072G>A
c.-21-12072G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15695044
chr12:15695236 A
A
 G
G
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.-21-12264T>C
c.-21-12264T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15695236
chr12:15695299 T
T
 C
C
 1 a0001c0002t0005g0014
a0001c0002t0005g0014
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.-21-12327A>G
c.-21-12327A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15695299
chr12:15695346 C
C
 G
G
 2 a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0101
a0001c0001t0001g0102
 2 NA18978.hp2
NA19063.hp1
NA18978.hp2
NA19063.hp1
 intron_variant MODIFIER c.-21-12374G>C
c.-21-12374G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15695346
chr12:15695359 C
C
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-21-12387G>A
c.-21-12387G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15695359
chr12:15695389 G
G
 A
A
 2 a0001c0001t0002g0022
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0002t0008g0023
 2 HG01884.hp1
HG03041.hp1
HG01884.hp1
HG03041.hp1
 intron_variant MODIFIER c.-21-12417C>T
c.-21-12417C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15695389
chr12:15695467 G
G
 C
C
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-21-12495C>G
c.-21-12495C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15695467
chr12:15695489 A
A
 G
G
 3 a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
 3 HG01109.hp2
HG02886.hp1
HG03098.hp1
HG01109.hp2
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.-21-12517T>C
c.-21-12517T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15695489
chr12:15695548 T
T
 A
A
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-21-12576A>T
c.-21-12576A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15695548
chr12:15695644 T
T
 A
A
 1 a0001c0001t0002g0022
a0001c0001t0002g0022
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.-21-12672A>T
c.-21-12672A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15695644
chr12:15695907 G
G
 A
A
 1 a0002c0004t0001g0081
a0002c0004t0001g0081
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.-21-12935C>T
c.-21-12935C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15695907
chr12:15696004 A
A
 C
C
 3 a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
 3 HG02451.hp1
HG02630.hp1
HG02818.hp1
HG02451.hp1
HG02630.hp1
HG02818.hp1
 intron_variant MODIFIER c.-21-13032T>G
c.-21-13032T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15696004
chr12:15696035 T
T
 C
C
 4 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
others(1): Show 
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
 4 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(1): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.-21-13063A>G
c.-21-13063A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15696035
chr12:15696171 C
C
 T
T
 2 a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0101
a0001c0001t0001g0102
 2 NA18978.hp2
NA19063.hp1
NA18978.hp2
NA19063.hp1
 intron_variant MODIFIER c.-21-13199G>A
c.-21-13199G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15696171
chr12:15696335 T
T
 C
C
 54 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(51): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0009t0001g0088
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 54 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(51): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp2
HG02886.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-13363A>G
c.-21-13363A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15696335
chr12:15696704 A
A
 G
G
 1 a0001c0007t0012g0015
a0001c0007t0012g0015
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.-21-13732T>C
c.-21-13732T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15696704
chr12:15696809 G
G
 C
C
 3 a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
 3 HG01109.hp1
HG03471.hp2
NA19240.hp2
HG01109.hp1
HG03471.hp2
NA19240.hp2
 intron_variant MODIFIER c.-21-13837C>G
c.-21-13837C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15696809
chr12:15696815 G
G
 A
A
 62 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(59): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0025
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0008
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 62 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(59): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp2
HG02886.hp1
HG02886.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03471.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-13843C>T
c.-21-13843C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15696815
chr12:15697083 A
A
 G
G
 1 a0001c0002t0008g0023
a0001c0002t0008g0023
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.-21-14111T>C
c.-21-14111T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15697083
chr12:15697288 C
C
 G
G
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-21-14316G>C
c.-21-14316G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15697288
chr12:15697291 C
C
 G
G
 2 a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0067
a0001c0001t0001g0068
 2 HG02559.hp1
HG03516.hp2
HG02559.hp1
HG03516.hp2
 intron_variant MODIFIER c.-21-14319G>C
c.-21-14319G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15697291
chr12:15697400 G
G
 A
A
 1 a0001c0001t0002g0026
a0001c0001t0002g0026
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.-21-14428C>T
c.-21-14428C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15697400
chr12:15697402 A
A
 G
G
 3 a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
 3 HG01109.hp1
HG03471.hp2
NA19240.hp2
HG01109.hp1
HG03471.hp2
NA19240.hp2
 intron_variant MODIFIER c.-21-14430T>C
c.-21-14430T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15697402
chr12:15697512 C
C
 T
T
 3 a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
 3 HG01109.hp2
HG02886.hp1
HG03098.hp1
HG01109.hp2
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.-21-14540G>A
c.-21-14540G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15697512
chr12:15697665 A
A
 G
G
 1 a0001c0001t0001g0099
a0001c0001t0001g0099
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.-21-14693T>C
c.-21-14693T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15697665
chr12:15697788 G
G
 A
A
 4 a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
others(1): Show 
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
 4 HG02109.hp2
HG02622.hp2
HG03130.hp2
others(1): Show 
HG02109.hp2
HG02622.hp2
HG03130.hp2
HG06807.hp2
 intron_variant MODIFIER c.-21-14816C>T
c.-21-14816C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15697788
chr12:15698531 G
G
 A
A
 44 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(41): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0009t0001g0088
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 44 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(41): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG02109.hp2
HG02132.hp2
HG02258.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp2
HG02886.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp2
HG03579.hp2
HG03831.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18978.hp2
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19087.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-15559C>T
c.-21-15559C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15698531
chr12:15698557 TA
TA
 T
T
 95 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(92): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 95 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(92): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-15586delT
c.-21-15586delT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15698557
chr12:15698559 A
A
 T
T
 37 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0021
others(34): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0083
a0001c0001t0001g0086
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
 37 HG00733.hp2
HG01256.hp2
HG01884.hp1
others(34): Show 
HG00733.hp2
HG01256.hp2
HG01884.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02132.hp1
HG02145.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02818.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03831.hp2
NA18944.hp1
NA18978.hp1
NA19009.hp1
NA19030.hp1
NA19062.hp2
NA19087.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.-21-15587T>A
c.-21-15587T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15698559
chr12:15698616 T
T
 C
C
 13 a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
others(10): Show 
a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0083
a0001c0001t0001g0086
a0001c0002t0001g0065
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0002c0004t0001g0081
 13 HG01256.hp2
HG02132.hp1
HG02300.hp1
others(10): Show 
HG01256.hp2
HG02132.hp1
HG02300.hp1
HG02451.hp1
HG02630.hp1
HG02818.hp1
HG03831.hp2
NA18944.hp1
NA18978.hp1
NA19009.hp1
NA19062.hp2
NA19087.hp1
NA20300.hp2
 intron_variant MODIFIER c.-21-15644A>G
c.-21-15644A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15698616
chr12:15699047 C
C
 T
T
 1 a0001c0001t0009g0057
a0001c0001t0009g0057
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.-21-16075G>A
c.-21-16075G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15699047
chr12:15699121 C
C
 A
A
 27 a0001c0001t0001g0011
a0001c0001t0001g0024
a0001c0001t0001g0027
others(24): Show 
a0001c0001t0001g0011
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0002c0004t0001g0062
a0002c0004t0001g0079
 27 HG00733.hp2
HG01884.hp1
HG01891.hp2
others(24): Show 
HG00733.hp2
HG01884.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02818.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-21-16149G>T
c.-21-16149G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15699121
chr12:15699326 C
C
 G
G
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.-21-16354G>C
c.-21-16354G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15699326
chr12:15699457 C
C
 A
A
 101 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(98): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 101 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(98): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-16485G>T
c.-21-16485G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15699457
chr12:15699503 GAGA
GAGA
 G
G
 5 a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0001g0080
others(2): Show 
a0001c0002t0001g0069
a0001c0002t0001g0077
a0001c0002t0001g0080
a0002c0004t0001g0062
a0002c0004t0001g0079
 5 HG02630.hp2
HG03041.hp2
HG03098.hp2
others(2): Show 
HG02630.hp2
HG03041.hp2
HG03098.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-21-16534_-21-1653
others(7): Show 
c.-21-16534_-21-16532delTCT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15699503
chr12:15699557 T
T
 C
C
 87 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(84): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 87 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(84): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-16585A>G
c.-21-16585A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15699557
chr12:15699632 C
C
 T
T
 87 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(84): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 87 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(84): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-16660G>A
c.-21-16660G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15699632
chr12:15699647 C
C
 G
G
 1 a0001c0001t0002g0009
a0001c0001t0002g0009
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.-21-16675G>C
c.-21-16675G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15699647
chr12:15699894 G
G
 C
C
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-21-16922C>G
c.-21-16922C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15699894
chr12:15700029 C
C
 T
T
 1 a0001c0002t0001g0078
a0001c0002t0001g0078
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.-21-17057G>A
c.-21-17057G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15700029
chr12:15700151 T
T
 C
C
 1 a0001c0003t0004g0031
a0001c0003t0004g0031
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.-21-17179A>G
c.-21-17179A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15700151
chr12:15700170 A
A
 G
G
 1 a0001c0001t0001g0094
a0001c0001t0001g0094
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.-21-17198T>C
c.-21-17198T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15700170
chr12:15700462 T
T
 C
C
 90 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(87): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 90 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(87): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-17490A>G
c.-21-17490A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15700462
chr12:15700595 TA
TA
 T
T
 28 a0001c0001t0001g0011
a0001c0001t0001g0024
a0001c0001t0001g0027
others(25): Show 
a0001c0001t0001g0011
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0006
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0002c0004t0001g0062
a0002c0004t0001g0079
 28 HG00733.hp2
HG01884.hp1
HG01891.hp2
others(25): Show 
HG00733.hp2
HG01884.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02818.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-21-17624delT
c.-21-17624delT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15700595
chr12:15701113 T
T
 C
C
 54 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(51): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0009t0001g0088
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 54 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(51): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp2
HG02886.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-18141A>G
c.-21-18141A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15701113
chr12:15701227 G
G
 A
A
 2 a0001c0001t0001g0045
a0001c0001t0001g0083
a0001c0001t0001g0045
a0001c0001t0001g0083
 2 NA18978.hp1
NA19062.hp2
NA18978.hp1
NA19062.hp2
 intron_variant MODIFIER c.-21-18255C>T
c.-21-18255C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15701227
chr12:15701345 A
A
 G
G
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-21-18373T>C
c.-21-18373T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15701345
chr12:15702472 A
A
 T
T
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-21-19500T>A
c.-21-19500T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15702472
chr12:15702625 TTAAATAT
others(64): Show 
TTAAATATGAAGAAAAAAATTGCATGCCTAATATTTTTACCTATATCCAA
AACACATATCCAATACAATATA
 T
T
 5 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
others(2): Show 
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0005g0014
 5 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(2): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03139.hp1
 intron_variant MODIFIER c.-21-19724_-21-1965
others(75): Show 
c.-21-19724_-21-19654delTATATTGTATTGGATATGTGTTTTGG
ATATAGGTAAAAATATTAGGCATGCAATTTTTTTCTTCATATTTA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15702625
chr12:15702682 A
A
 T
T
 45 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(42): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0009t0001g0088
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 45 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(42): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG02109.hp2
HG02132.hp2
HG02258.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp2
HG02886.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp2
HG03579.hp2
HG03831.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18978.hp2
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-19710T>A
c.-21-19710T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15702682
chr12:15702690 C
C
 A
A
 1 a0001c0003t0006g0066
a0001c0003t0006g0066
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.-21-19718G>T
c.-21-19718G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15702690
chr12:15702806 G
G
 T
T
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-21-19834C>A
c.-21-19834C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15702806
chr12:15703351 T
T
 C
C
 90 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(87): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 90 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(87): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-20379A>G
c.-21-20379A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15703351
chr12:15703476 T
T
 C
C
 1 a0001c0002t0001g0054
a0001c0002t0001g0054
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.-21-20504A>G
c.-21-20504A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15703476
chr12:15703579 T
T
 G
G
 36 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0021
others(33): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0083
a0001c0001t0001g0086
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
 36 HG00733.hp2
HG01256.hp2
HG01884.hp1
others(33): Show 
HG00733.hp2
HG01256.hp2
HG01884.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02132.hp1
HG02145.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02818.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03831.hp2
NA18944.hp1
NA18978.hp1
NA19009.hp1
NA19030.hp1
NA19062.hp2
NA19087.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.-21-20607A>C
c.-21-20607A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15703579
chr12:15703646 TA
TA
 T
T
 6 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(3): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0002t0001g0053
a0001c0002t0008g0051
 6 HG00733.hp1
HG01243.hp2
HG01884.hp2
others(3): Show 
HG00733.hp1
HG01243.hp2
HG01884.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-21-20675delT
c.-21-20675delT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15703646
chr12:15703664 T
T
 C
C
 6 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(3): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0002t0001g0053
a0001c0002t0008g0051
 6 HG00733.hp1
HG01243.hp2
HG01884.hp2
others(3): Show 
HG00733.hp1
HG01243.hp2
HG01884.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-21-20692A>G
c.-21-20692A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15703664
chr12:15703847 G
G
 GT
GT
 20 a0001c0001t0001g0020
a0001c0001t0001g0036
a0001c0001t0001g0038
others(17): Show 
a0001c0001t0001g0020
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0068
a0001c0001t0001g0096
a0001c0001t0001g0100
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0061
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0003t0006g0066
a0001c0010t0004g0007
a0004c0008t0001g0028
 20 HG00738.hp1
HG01109.hp2
HG01261.hp2
others(17): Show 
HG00738.hp1
HG01109.hp2
HG01261.hp2
HG02055.hp1
HG02132.hp2
HG02145.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03471.hp2
HG03486.hp2
NA19030.hp2
NA19087.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.-21-20876dupA
c.-21-20876dupA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15703847
chr12:15703847 G
G
 GTT
GTT
 12 a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
others(9): Show 
a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0067
a0001c0001t0001g0083
a0001c0001t0001g0086
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0003g0001
a0002c0004t0001g0081
 12 HG01109.hp1
HG01256.hp2
HG02300.hp1
others(9): Show 
HG01109.hp1
HG01256.hp2
HG02300.hp1
HG02922.hp1
HG03486.hp1
HG03516.hp2
HG03831.hp2
NA18944.hp1
NA18978.hp1
NA19009.hp1
NA19062.hp2
NA20300.hp2
 intron_variant MODIFIER c.-21-20877_-21-2087
others(6): Show 
c.-21-20877_-21-20876dupAA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15703847
chr12:15703847 G
G
 GTTT
GTTT
 21 a0001c0001t0001g0011
a0001c0001t0001g0024
a0001c0001t0001g0027
others(18): Show 
a0001c0001t0001g0011
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0056
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0010
a0001c0002t0001g0065
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0002c0004t0001g0062
a0002c0004t0001g0079
 21 HG00733.hp2
HG01884.hp1
HG01891.hp2
others(18): Show 
HG00733.hp2
HG01884.hp1
HG01891.hp2
HG02109.hp1
HG02132.hp1
HG02258.hp1
HG02451.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02818.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03516.hp1
HG03579.hp1
NA19087.hp1
 intron_variant MODIFIER c.-21-20878_-21-2087
others(7): Show 
c.-21-20878_-21-20876dupAAA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15703847
chr12:15703847 G
G
 GTTTT
GTTTT
 4 a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0073
others(1): Show 
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0073
a0001c0002t0001g0077
 4 HG02055.hp2
HG02145.hp1
NA19030.hp1
others(1): Show 
HG02055.hp2
HG02145.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-21-20879_-21-2087
others(8): Show 
c.-21-20879_-21-20876dupAAAA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15703847
chr12:15703847 GT
GT
 G
G
 4 a0001c0001t0001g0087
a0001c0003t0004g0031
a0001c0003t0004g0039
others(1): Show 
a0001c0001t0001g0087
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
 4 HG02109.hp2
HG03130.hp2
HG03579.hp2
others(1): Show 
HG02109.hp2
HG03130.hp2
HG03579.hp2
HG06807.hp2
 intron_variant MODIFIER c.-21-20876delA
c.-21-20876delA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15703847
chr12:15703886 C
C
 T
T
 4 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
others(1): Show 
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
 4 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(1): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.-21-20914G>A
c.-21-20914G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15703886
chr12:15703896 A
A
 G
G
 1 a0001c0002t0005g0014
a0001c0002t0005g0014
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.-21-20924T>C
c.-21-20924T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15703896
chr12:15703920 G
G
 A
A
 1 a0001c0002t0001g0072
a0001c0002t0001g0072
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.-21-20948C>T
c.-21-20948C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15703920
chr12:15704027 A
A
 G
G
 45 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(42): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0009t0001g0088
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 45 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(42): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG02109.hp2
HG02132.hp2
HG02258.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp2
HG02886.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp2
HG03579.hp2
HG03831.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18978.hp2
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-21055T>C
c.-21-21055T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15704027
chr12:15704426 A
A
 C
C
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-21-21454T>G
c.-21-21454T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15704426
chr12:15704721 T
T
 C
C
 3 a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
 3 HG01109.hp1
HG03471.hp2
NA19240.hp2
HG01109.hp1
HG03471.hp2
NA19240.hp2
 intron_variant MODIFIER c.-21-21749A>G
c.-21-21749A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15704721
chr12:15704757 G
G
 A
A
 82 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(79): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 82 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(79): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-21785C>T
c.-21-21785C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15704757
chr12:15704905 C
C
 T
T
 1 a0001c0001t0001g0090
a0001c0001t0001g0090
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.-21-21933G>A
c.-21-21933G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15704905
chr12:15704923 C
C
 A
A
 2 a0001c0002t0001g0006
a0001c0002t0005g0014
a0001c0002t0001g0006
a0001c0002t0005g0014
 2 HG02922.hp1
HG03139.hp1
HG02922.hp1
HG03139.hp1
 intron_variant MODIFIER c.-21-21951G>T
c.-21-21951G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15704923
chr12:15704925 A
A
 C
C
 2 a0001c0001t0001g0025
a0001c0001t0001g0042
a0001c0001t0001g0025
a0001c0001t0001g0042
 2 HG00597.hp2
NA19009.hp1
HG00597.hp2
NA19009.hp1
 intron_variant MODIFIER c.-21-21953T>G
c.-21-21953T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15704925
chr12:15705056 T
T
 C
C
 1 a0002c0004t0001g0098
a0002c0004t0001g0098
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.-21-22084A>G
c.-21-22084A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15705056
chr12:15705243 A
A
 G
G
 1 a0001c0001t0001g0089
a0001c0001t0001g0089
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.-21-22271T>C
c.-21-22271T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15705243
chr12:15705244 C
C
 T
T
 4 a0001c0001t0001g0011
a0001c0002t0001g0010
a0001c0002t0001g0073
others(1): Show 
a0001c0001t0001g0011
a0001c0002t0001g0010
a0001c0002t0001g0073
a0001c0002t0001g0074
 4 HG02055.hp2
HG03130.hp1
HG03139.hp2
others(1): Show 
HG02055.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
 intron_variant MODIFIER c.-21-22272G>A
c.-21-22272G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15705244
chr12:15705398 T
T
 A
A
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-21-22426A>T
c.-21-22426A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15705398
chr12:15706204 A
A
 G
G
 7 a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
others(4): Show 
a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0086
a0002c0004t0001g0081
 7 HG01256.hp2
HG02132.hp1
HG02300.hp1
others(4): Show 
HG01256.hp2
HG02132.hp1
HG02300.hp1
HG03831.hp2
NA18944.hp1
NA19009.hp1
NA20300.hp2
 intron_variant MODIFIER c.-21-23232T>C
c.-21-23232T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15706204
chr12:15706317 G
G
 A
A
 80 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(77): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 80 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(77): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-23345C>T
c.-21-23345C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15706317
chr12:15706468 C
C
 CA
CA
 90 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(87): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 90 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(87): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-23497_-21-2349
others(5): Show 
c.-21-23497_-21-23496insT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15706468
chr12:15706812 C
C
 T
T
 1 a0001c0001t0001g0086
a0001c0001t0001g0086
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.-21-23840G>A
c.-21-23840G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15706812
chr12:15706889 C
C
 G
G
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-21-23917G>C
c.-21-23917G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15706889
chr12:15707009 T
T
 G
G
 84 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(81): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 84 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(81): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-24037A>C
c.-21-24037A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15707009
chr12:15707072 C
C
 A
A
 2 a0001c0002t0001g0006
a0001c0002t0005g0014
a0001c0002t0001g0006
a0001c0002t0005g0014
 2 HG02922.hp1
HG03139.hp1
HG02922.hp1
HG03139.hp1
 intron_variant MODIFIER c.-21-24100G>T
c.-21-24100G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15707072
chr12:15707203 T
T
 C
C
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-21-24231A>G
c.-21-24231A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15707203
chr12:15707354 C
C
 A
A
 2 a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0067
a0001c0001t0001g0068
 2 HG02559.hp1
HG03516.hp2
HG02559.hp1
HG03516.hp2
 intron_variant MODIFIER c.-21-24382G>T
c.-21-24382G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15707354
chr12:15708037 G
G
 C
C
 13 a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
others(10): Show 
a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0083
a0001c0001t0001g0086
a0001c0001t0002g0026
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0002c0004t0001g0081
 13 HG01256.hp2
HG02132.hp1
HG02258.hp1
others(10): Show 
HG01256.hp2
HG02132.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02630.hp1
HG02818.hp1
HG03831.hp2
NA18944.hp1
NA18978.hp1
NA19009.hp1
NA19062.hp2
NA20300.hp2
 intron_variant MODIFIER c.-21-25065C>G
c.-21-25065C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15708037
chr12:15708459 C
C
 A
A
 1 a0001c0001t0001g0097
a0001c0001t0001g0097
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.-21-25487G>T
c.-21-25487G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15708459
chr12:15708578 T
T
 C
C
 1 a0001c0002t0003g0001
a0001c0002t0003g0001
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.-21-25606A>G
c.-21-25606A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15708578
chr12:15709205 T
T
 C
C
 80 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(77): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 80 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(77): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-26233A>G
c.-21-26233A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15709205
chr12:15709376 G
G
 A
A
 1 a0001c0001t0009g0057
a0001c0001t0009g0057
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.-21-26404C>T
c.-21-26404C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15709376
chr12:15709667 G
G
 T
T
 4 a0001c0001t0002g0026
a0001c0005t0005g0033
a0001c0005t0005g0043
others(1): Show 
a0001c0001t0002g0026
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
 4 HG02258.hp1
HG02451.hp1
HG02630.hp1
others(1): Show 
HG02258.hp1
HG02451.hp1
HG02630.hp1
HG02818.hp1
 intron_variant MODIFIER c.-21-26695C>A
c.-21-26695C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15709667
chr12:15709738 T
T
 C
C
 4 a0001c0001t0002g0026
a0001c0005t0005g0033
a0001c0005t0005g0043
others(1): Show 
a0001c0001t0002g0026
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
 4 HG02258.hp1
HG02451.hp1
HG02630.hp1
others(1): Show 
HG02258.hp1
HG02451.hp1
HG02630.hp1
HG02818.hp1
 intron_variant MODIFIER c.-21-26766A>G
c.-21-26766A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15709738
chr12:15709833 G
G
 A
A
 2 a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0067
a0001c0001t0001g0068
 2 HG02559.hp1
HG03516.hp2
HG02559.hp1
HG03516.hp2
 intron_variant MODIFIER c.-21-26861C>T
c.-21-26861C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15709833
chr12:15709863 C
C
 T
T
 90 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(87): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 90 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(87): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-26891G>A
c.-21-26891G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15709863
chr12:15709996 A
A
 T
T
 3 a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
 3 HG01109.hp1
HG03471.hp2
NA19240.hp2
HG01109.hp1
HG03471.hp2
NA19240.hp2
 intron_variant MODIFIER c.-21-27024T>A
c.-21-27024T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15709996
chr12:15710032 G
G
 A
A
 16 a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0002t0001g0010
others(13): Show 
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0002t0001g0010
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0002c0004t0001g0062
a0002c0004t0001g0079
 16 HG01891.hp2
HG02055.hp2
HG02109.hp1
others(13): Show 
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-21-27060C>T
c.-21-27060C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15710032
chr12:15710038 C
C
 T
T
 1 a0001c0002t0001g0073
a0001c0002t0001g0073
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.-21-27066G>A
c.-21-27066G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15710038
chr12:15710096 A
A
 AC
AC
 80 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(77): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 80 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(77): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-27125dupG
c.-21-27125dupG
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15710096
chr12:15710171 C
C
 T
T
 3 a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
 3 HG01109.hp1
HG03471.hp2
NA19240.hp2
HG01109.hp1
HG03471.hp2
NA19240.hp2
 intron_variant MODIFIER c.-21-27199G>A
c.-21-27199G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15710171
chr12:15710576 A
A
 C
C
 4 a0001c0001t0001g0025
a0001c0002t0003g0001
a0001c0002t0003g0002
others(1): Show 
a0001c0001t0001g0025
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
 4 HG00597.hp2
HG01109.hp1
HG03471.hp2
others(1): Show 
HG00597.hp2
HG01109.hp1
HG03471.hp2
NA19240.hp2
 intron_variant MODIFIER c.-21-27604T>G
c.-21-27604T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15710576
chr12:15710686 A
A
 G
G
 1 a0001c0010t0004g0007
a0001c0010t0004g0007
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.-21-27714T>C
c.-21-27714T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15710686
chr12:15710699 CA
CA
 C
C
 2 a0001c0002t0001g0006
a0001c0002t0005g0014
a0001c0002t0001g0006
a0001c0002t0005g0014
 2 HG02922.hp1
HG03139.hp1
HG02922.hp1
HG03139.hp1
 intron_variant MODIFIER c.-21-27728delT
c.-21-27728delT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15710699
chr12:15710796 A
A
 G
G
 54 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(51): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0009t0001g0088
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 54 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(51): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp2
HG02886.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-27824T>C
c.-21-27824T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15710796
chr12:15711033 C
C
 CTTAT
CTTAT
 11 a0001c0001t0001g0020
a0001c0001t0001g0029
a0001c0001t0001g0058
others(8): Show 
a0001c0001t0001g0020
a0001c0001t0001g0029
a0001c0001t0001g0058
a0001c0001t0001g0064
a0001c0001t0002g0009
a0001c0002t0001g0032
a0001c0002t0005g0014
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0004c0008t0001g0028
 11 HG00738.hp1
HG01071.hp1
HG01071.hp2
others(8): Show 
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01261.hp2
HG01891.hp1
HG02109.hp2
HG02622.hp2
HG03130.hp2
HG03139.hp1
HG03486.hp1
NA18906.hp2
 intron_variant MODIFIER c.-21-28065_-21-2806
others(8): Show 
c.-21-28065_-21-28062dupATAA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15711033
chr12:15711033 CTTAT
CTTAT
 C
C
 42 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(39): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0003g0001
a0001c0002t0003g0003
a0001c0002t0008g0051
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0002c0004t0001g0062
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
 42 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(39): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01261.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03486.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18944.hp2
NA18978.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19087.hp2
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-28065_-21-2806
others(8): Show 
c.-21-28065_-21-28062delATAA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15711033
chr12:15711033 CTTATTTA
others(1): Show 
CTTATTTAT
 C
C
 3 a0001c0001t0001g0059
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0059
a0001c0001t0001g0067
a0001c0001t0001g0068
 3 HG02300.hp2
HG02559.hp1
HG03516.hp2
HG02300.hp2
HG02559.hp1
HG03516.hp2
 intron_variant MODIFIER c.-21-28069_-21-2806
others(12): Show 
c.-21-28069_-21-28062delATAAATAA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15711033
chr12:15711033 CTTATTTA
others(5): Show 
CTTATTTATTTAT
 C
C
 1 a0001c0001t0001g0019
a0001c0001t0001g0019
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.-21-28073_-21-2806
others(16): Show 
c.-21-28073_-21-28062delATAAATAAATAA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15711033
chr12:15711033 CTTATTTA
others(9): Show 
CTTATTTATTTATTTAT
 C
C
 1 a0001c0001t0002g0026
a0001c0001t0002g0026
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.-21-28077_-21-2806
others(20): Show 
c.-21-28077_-21-28062delATAAATAAATAAATAA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15711033
chr12:15711180 C
C
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-21-28208G>A
c.-21-28208G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15711180
chr12:15711347 T
T
 G
G
 3 a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
 3 HG01109.hp1
HG03471.hp2
NA19240.hp2
HG01109.hp1
HG03471.hp2
NA19240.hp2
 intron_variant MODIFIER c.-21-28375A>C
c.-21-28375A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15711347
chr12:15711372 G
G
 A
A
 2 a0001c0001t0001g0096
a0003c0006t0001g0091
a0001c0001t0001g0096
a0003c0006t0001g0091
 2 HG00621.hp1
NA19087.hp2
HG00621.hp1
NA19087.hp2
 intron_variant MODIFIER c.-21-28400C>T
c.-21-28400C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15711372
chr12:15711400 T
T
 C
C
 4 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
others(1): Show 
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
 4 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(1): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.-21-28428A>G
c.-21-28428A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15711400
chr12:15712058 T
T
 C
C
 90 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(87): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 90 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(87): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-29086A>G
c.-21-29086A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15712058
chr12:15712345 G
G
 T
T
 90 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(87): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 90 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(87): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-29373C>A
c.-21-29373C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15712345
chr12:15712379 C
C
 A
A
 1 a0001c0001t0003g0004
a0001c0001t0003g0004
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.-21-29407G>T
c.-21-29407G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15712379
chr12:15712824 A
A
 G
G
 1 a0001c0002t0001g0032
a0001c0002t0001g0032
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.-21-29852T>C
c.-21-29852T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15712824
chr12:15712838 T
T
 C
C
 90 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(87): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 90 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(87): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-29866A>G
c.-21-29866A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15712838
chr12:15713154 T
T
 C
C
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.-21-30182A>G
c.-21-30182A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15713154
chr12:15713244 C
C
 T
T
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.-21-30272G>A
c.-21-30272G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15713244
chr12:15713991 G
G
 C
C
 81 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(78): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 81 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(78): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-31019C>G
c.-21-31019C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15713991
chr12:15714041 G
G
 A
A
 90 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(87): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 90 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(87): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-31069C>T
c.-21-31069C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15714041
chr12:15714326 A
A
 T
T
 4 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
others(1): Show 
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
 4 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(1): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.-21-31354T>A
c.-21-31354T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15714326
chr12:15714401 T
T
 G
G
 86 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(83): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 86 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(83): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-31429A>C
c.-21-31429A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15714401
chr12:15714414 G
G
 A
A
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-21-31442C>T
c.-21-31442C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15714414
chr12:15714622 G
G
 A
A
 1 a0001c0003t0006g0066
a0001c0003t0006g0066
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.-21-31650C>T
c.-21-31650C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15714622
chr12:15714788 G
G
 C
C
 1 a0001c0001t0001g0096
a0001c0001t0001g0096
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.-21-31816C>G
c.-21-31816C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15714788
chr12:15714865 G
G
 A
A
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-21-31893C>T
c.-21-31893C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15714865
chr12:15715276 T
T
 C
C
 100 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(97): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 100 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(97): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-32304A>G
c.-21-32304A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15715276
chr12:15715287 C
C
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.-21-32315G>A
c.-21-32315G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15715287
chr12:15715312 T
T
 C
C
 90 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(87): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 90 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(87): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-32340A>G
c.-21-32340A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15715312
chr12:15715388 A
A
 T
T
 90 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(87): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 90 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(87): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-32416T>A
c.-21-32416T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15715388
chr12:15715394 C
C
 CT
CT
 14 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(11): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0007g0084
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
 14 HG00733.hp1
HG01243.hp1
HG01243.hp2
others(11): Show 
HG00733.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01884.hp2
HG02109.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp2
HG02886.hp2
HG03130.hp2
HG06807.hp2
NA19043.hp1
NA19043.hp2
 intron_variant MODIFIER c.-21-32423dupA
c.-21-32423dupA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15715394
chr12:15715394 C
C
 CTT
CTT
 39 a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0029
others(36): Show 
a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0065
a0001c0009t0001g0088
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 39 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(36): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG02132.hp1
HG02132.hp2
HG02258.hp2
HG02300.hp1
HG02523.hp1
HG02523.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-32424_-21-3242
others(6): Show 
c.-21-32424_-21-32423dupAA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15715394
chr12:15715394 CT
CT
 C
C
 4 a0001c0001t0002g0026
a0001c0005t0005g0033
a0001c0005t0005g0043
others(1): Show 
a0001c0001t0002g0026
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
 4 HG02258.hp1
HG02451.hp1
HG02630.hp1
others(1): Show 
HG02258.hp1
HG02451.hp1
HG02630.hp1
HG02818.hp1
 intron_variant MODIFIER c.-21-32423delA
c.-21-32423delA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15715394
chr12:15715398 T
T
 C
C
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-21-32426A>G
c.-21-32426A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15715398
chr12:15715481 G
G
 A
A
 1 a0001c0001t0002g0022
a0001c0001t0002g0022
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.-21-32509C>T
c.-21-32509C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15715481
chr12:15715541 C
C
 T
T
 80 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(77): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 80 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(77): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-32569G>A
c.-21-32569G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15715541
chr12:15715661 G
G
 C
C
 1 a0001c0002t0001g0063
a0001c0002t0001g0063
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.-21-32689C>G
c.-21-32689C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15715661
chr12:15715713 T
T
 A
A
 4 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
others(1): Show 
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
 4 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(1): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
 intron_variant MODIFIER c.-21-32741A>T
c.-21-32741A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15715713
chr12:15715817 C
C
 T
T
 2 a0001c0002t0001g0006
a0001c0002t0005g0014
a0001c0002t0001g0006
a0001c0002t0005g0014
 2 HG02922.hp1
HG03139.hp1
HG02922.hp1
HG03139.hp1
 intron_variant MODIFIER c.-21-32845G>A
c.-21-32845G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15715817
chr12:15715874 G
G
 A
A
 1 a0001c0002t0001g0077
a0001c0002t0001g0077
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.-21-32902C>T
c.-21-32902C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15715874
chr12:15716141 A
A
 G
G
 86 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(83): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 86 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(83): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-33169T>C
c.-21-33169T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15716141
chr12:15716268 GT
GT
 G
G
 3 a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
 3 HG01109.hp1
HG03471.hp2
NA19240.hp2
HG01109.hp1
HG03471.hp2
NA19240.hp2
 intron_variant MODIFIER c.-21-33297delA
c.-21-33297delA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15716268
chr12:15716761 C
C
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-21-33789G>A
c.-21-33789G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15716761
chr12:15717353 G
G
 A
A
 80 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(77): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 80 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(77): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-34381C>T
c.-21-34381C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15717353
chr12:15717430 T
T
 C
C
 1 a0001c0001t0001g0089
a0001c0001t0001g0089
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.-21-34458A>G
c.-21-34458A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15717430
chr12:15717674 G
G
 A
A
 1 a0001c0003t0006g0066
a0001c0003t0006g0066
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.-21-34702C>T
c.-21-34702C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15717674
chr12:15717808 G
G
 C
C
 2 a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0067
a0001c0001t0001g0068
 2 HG02559.hp1
HG03516.hp2
HG02559.hp1
HG03516.hp2
 intron_variant MODIFIER c.-21-34836C>G
c.-21-34836C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15717808
chr12:15718370 C
C
 T
T
 3 a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
 3 HG01109.hp1
HG03471.hp2
NA19240.hp2
HG01109.hp1
HG03471.hp2
NA19240.hp2
 intron_variant MODIFIER c.-21-35398G>A
c.-21-35398G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15718370
chr12:15718651 T
T
 C
C
 54 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(51): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0009t0001g0088
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 54 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(51): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp2
HG02886.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-35679A>G
c.-21-35679A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15718651
chr12:15718692 G
G
 C
C
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-21-35720C>G
c.-21-35720C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15718692
chr12:15718714 A
A
 G
G
 2 a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0067
a0001c0001t0001g0068
 2 HG02559.hp1
HG03516.hp2
HG02559.hp1
HG03516.hp2
 intron_variant MODIFIER c.-21-35742T>C
c.-21-35742T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15718714
chr12:15718828 CT
CT
 C
C
 54 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(51): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0009t0001g0088
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 54 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(51): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp2
HG02886.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-35857delA
c.-21-35857delA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15718828
chr12:15718862 G
G
 A
A
 54 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(51): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0009t0001g0088
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 54 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(51): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp2
HG02886.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-35890C>T
c.-21-35890C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15718862
chr12:15718921 T
T
 G
G
 1 a0001c0001t0001g0096
a0001c0001t0001g0096
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.-21-35949A>C
c.-21-35949A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15718921
chr12:15719003 T
T
 C
C
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.-21-36031A>G
c.-21-36031A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15719003
chr12:15719041 G
G
 A
A
 80 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(77): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 80 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(77): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-36069C>T
c.-21-36069C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15719041
chr12:15719131 AG
AG
 A
A
 4 a0001c0001t0001g0011
a0001c0002t0001g0010
a0001c0002t0001g0073
others(1): Show 
a0001c0001t0001g0011
a0001c0002t0001g0010
a0001c0002t0001g0073
a0001c0002t0001g0074
 4 HG02055.hp2
HG03130.hp1
HG03139.hp2
others(1): Show 
HG02055.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
 intron_variant MODIFIER c.-21-36160delC
c.-21-36160delC
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15719131
chr12:15719202 C
C
 CAT
CAT
 3 a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
 3 HG02451.hp1
HG02630.hp1
HG02818.hp1
HG02451.hp1
HG02630.hp1
HG02818.hp1
 intron_variant MODIFIER c.-21-36232_-21-3623
others(6): Show 
c.-21-36232_-21-36231dupAT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15719202
chr12:15719216 T
T
 C
C
 2 a0001c0001t0002g0022
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0002t0008g0023
 2 HG01884.hp1
HG03041.hp1
HG01884.hp1
HG03041.hp1
 intron_variant MODIFIER c.-21-36244A>G
c.-21-36244A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15719216
chr12:15719238 C
C
 T
T
 9 a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
others(6): Show 
a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0083
a0001c0001t0001g0086
a0002c0004t0001g0081
 9 HG01256.hp2
HG02132.hp1
HG02300.hp1
others(6): Show 
HG01256.hp2
HG02132.hp1
HG02300.hp1
HG03831.hp2
NA18944.hp1
NA18978.hp1
NA19009.hp1
NA19062.hp2
NA20300.hp2
 intron_variant MODIFIER c.-21-36266G>A
c.-21-36266G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15719238
chr12:15719601 A
A
 G
G
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-21-36629T>C
c.-21-36629T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15719601
chr12:15719613 G
G
 C
C
 1 a0001c0001t0001g0094
a0001c0001t0001g0094
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.-21-36641C>G
c.-21-36641C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15719613
chr12:15719635 T
T
 C
C
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-21-36663A>G
c.-21-36663A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15719635
chr12:15719651 C
C
 T
T
 54 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(51): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0009t0001g0088
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 54 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(51): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp2
HG02886.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-36679G>A
c.-21-36679G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15719651
chr12:15719693 T
T
 C
C
 1 a0001c0001t0001g0090
a0001c0001t0001g0090
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.-21-36721A>G
c.-21-36721A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15719693
chr12:15719901 C
C
 T
T
 7 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
others(4): Show 
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0010t0004g0007
 7 HG01109.hp1
HG01109.hp2
HG01891.hp1
others(4): Show 
HG01109.hp1
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03471.hp2
NA19240.hp2
 intron_variant MODIFIER c.-21-36929G>A
c.-21-36929G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15719901
chr12:15720087 C
C
 T
T
 12 a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
others(9): Show 
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0010t0004g0007
 12 HG01109.hp1
HG01109.hp2
HG01884.hp1
others(9): Show 
HG01109.hp1
HG01109.hp2
HG01884.hp1
HG01891.hp1
HG02258.hp1
HG02886.hp1
HG02922.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03471.hp2
NA19240.hp2
 intron_variant MODIFIER c.-21-37115G>A
c.-21-37115G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15720087
chr12:15720196 T
T
 C
C
 1 a0001c0002t0001g0063
a0001c0002t0001g0063
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.-21-37224A>G
c.-21-37224A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15720196
chr12:15720274 C
C
 T
T
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.-21-37302G>A
c.-21-37302G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15720274
chr12:15721011 C
C
 A
A
 3 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
 3 HG01884.hp1
HG02258.hp1
HG03041.hp1
HG01884.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.-21-38039G>T
c.-21-38039G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15721011
chr12:15721573 C
C
 T
T
 1 a0001c0002t0001g0032
a0001c0002t0001g0032
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.-21-38601G>A
c.-21-38601G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15721573
chr12:15721643 C
C
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-21-38671G>A
c.-21-38671G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15721643
chr12:15721669 C
C
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-21-38697G>A
c.-21-38697G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15721669
chr12:15721826 A
A
 T
T
 4 a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0002t0001g0032
others(1): Show 
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0002t0001g0032
a0001c0003t0006g0066
 4 HG02559.hp1
HG03486.hp1
HG03516.hp2
others(1): Show 
HG02559.hp1
HG03486.hp1
HG03516.hp2
NA19030.hp2
 intron_variant MODIFIER c.-21-38854T>A
c.-21-38854T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15721826
chr12:15721924 T
T
 C
C
 3 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
 3 HG00597.hp2
HG00733.hp2
HG02922.hp1
HG00597.hp2
HG00733.hp2
HG02922.hp1
 intron_variant MODIFIER c.-21-38952A>G
c.-21-38952A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15721924
chr12:15722082 T
T
 C
C
 2 a0001c0001t0001g0024
a0001c0002t0001g0006
a0001c0001t0001g0024
a0001c0002t0001g0006
 2 HG00733.hp2
HG02922.hp1
HG00733.hp2
HG02922.hp1
 intron_variant MODIFIER c.-21-39110A>G
c.-21-39110A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15722082
chr12:15722179 C
C
 T
T
 27 a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0002g0009
others(24): Show 
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0008g0023
a0001c0010t0004g0007
a0002c0004t0001g0079
 27 HG00597.hp2
HG01109.hp1
HG01109.hp2
others(24): Show 
HG00597.hp2
HG01109.hp1
HG01109.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02630.hp2
HG02717.hp1
HG02886.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA19030.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.-21-39207G>A
c.-21-39207G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15722179
chr12:15722196 CA
CA
 C
C
 36 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(33): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0010t0004g0007
a0002c0004t0001g0079
 36 HG00597.hp2
HG00733.hp2
HG01109.hp1
others(33): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02451.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.-21-39225delT
c.-21-39225delT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15722196
chr12:15722219 G
G
 A
A
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-21-39247C>T
c.-21-39247C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15722219
chr12:15722330 C
C
 A
A
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.-21-39358G>T
c.-21-39358G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15722330
chr12:15722334 A
A
 G
G
 2 a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0001
a0001c0002t0003g0002
 2 HG01109.hp1
NA19240.hp2
HG01109.hp1
NA19240.hp2
 intron_variant MODIFIER c.-21-39362T>C
c.-21-39362T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15722334
chr12:15722714 C
C
 G
G
 17 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(14): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0003g0004
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0010t0004g0007
 17 HG01109.hp1
HG01109.hp2
HG01891.hp1
others(14): Show 
HG01109.hp1
HG01109.hp2
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02630.hp1
HG02818.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.-21-39742G>C
c.-21-39742G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15722714
chr12:15722831 C
C
 T
T
 7 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
 7 HG00597.hp2
HG00733.hp2
HG01243.hp2
others(4): Show 
HG00597.hp2
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-39859G>A
c.-21-39859G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15722831
chr12:15722860 A
A
 G
G
 1 a0001c0001t0001g0101
a0001c0001t0001g0101
 1 NA18978.hp2
NA18978.hp2
 intron_variant MODIFIER c.-21-39888T>C
c.-21-39888T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15722860
chr12:15722998 C
C
 G
G
 1 a0001c0001t0001g0092
a0001c0001t0001g0092
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.-21-40026G>C
c.-21-40026G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15722998
chr12:15723013 A
A
 C
C
 1 a0001c0001t0001g0099
a0001c0001t0001g0099
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.-21-40041T>G
c.-21-40041T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15723013
chr12:15723016 A
A
 C
C
 1 a0001c0003t0006g0044
a0001c0003t0006g0044
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.-21-40044T>G
c.-21-40044T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15723016
chr12:15723021 C
C
 A
A
 1 a0001c0002t0001g0061
a0001c0002t0001g0061
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.-21-40049G>T
c.-21-40049G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15723021
chr12:15723021 CA
CA
 C
C
 7 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
 7 HG00597.hp2
HG00733.hp2
HG01243.hp2
others(4): Show 
HG00597.hp2
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-40050delT
c.-21-40050delT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15723021
chr12:15723139 C
C
 A
A
 7 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
 7 HG00597.hp2
HG00733.hp2
HG01243.hp2
others(4): Show 
HG00597.hp2
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-40167G>T
c.-21-40167G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15723139
chr12:15723303 C
C
 A
A
 17 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(14): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0003g0004
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0010t0004g0007
 17 HG01109.hp1
HG01109.hp2
HG01891.hp1
others(14): Show 
HG01109.hp1
HG01109.hp2
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02630.hp1
HG02818.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.-21-40331G>T
c.-21-40331G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15723303
chr12:15723486 C
C
 T
T
 7 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
 7 HG00597.hp2
HG00733.hp2
HG01243.hp2
others(4): Show 
HG00597.hp2
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-40514G>A
c.-21-40514G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15723486
chr12:15724104 T
T
 C
C
 13 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0069
others(10): Show 
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0002c0004t0001g0079
 13 HG01884.hp1
HG02109.hp1
HG02145.hp1
others(10): Show 
HG01884.hp1
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-21-41132A>G
c.-21-41132A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15724104
chr12:15724253 C
C
 T
T
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-21-41281G>A
c.-21-41281G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15724253
chr12:15724390 A
A
 G
G
 7 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
 7 HG00597.hp2
HG00733.hp2
HG01243.hp2
others(4): Show 
HG00597.hp2
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-41418T>C
c.-21-41418T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15724390
chr12:15724513 C
C
 G
G
 1 a0001c0001t0001g0096
a0001c0001t0001g0096
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.-21-41541G>C
c.-21-41541G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15724513
chr12:15724591 G
G
 A
A
 14 a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0087
others(11): Show 
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0101
a0001c0002t0001g0047
a0001c0009t0001g0088
a0002c0004t0001g0098
a0003c0006t0001g0091
 14 HG00597.hp1
HG00621.hp1
HG00738.hp2
others(11): Show 
HG00597.hp1
HG00621.hp1
HG00738.hp2
HG01256.hp1
HG01261.hp1
HG02523.hp1
HG03017.hp1
HG03017.hp2
HG03579.hp2
HG03831.hp1
HG06807.hp1
NA18978.hp2
NA19062.hp1
NA19087.hp2
 intron_variant MODIFIER c.-21-41619C>T
c.-21-41619C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15724591
chr12:15724591 G
G
 C
C
 7 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
 7 HG00597.hp2
HG00733.hp2
HG01243.hp2
others(4): Show 
HG00597.hp2
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-41619C>G
c.-21-41619C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15724591
chr12:15724600 T
T
 C
C
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-21-41628A>G
c.-21-41628A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15724600
chr12:15724610 T
T
 G
G
 1 a0001c0002t0001g0032
a0001c0002t0001g0032
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.-21-41638A>C
c.-21-41638A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15724610
chr12:15724769 G
G
 T
T
 6 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(3): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
 6 HG00597.hp2
HG00733.hp2
HG01243.hp2
others(3): Show 
HG00597.hp2
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-21-41797C>A
c.-21-41797C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15724769
chr12:15725435 T
T
 C
C
 4 a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
others(1): Show 
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
 4 HG02109.hp2
HG02622.hp2
HG03130.hp2
others(1): Show 
HG02109.hp2
HG02622.hp2
HG03130.hp2
HG06807.hp2
 intron_variant MODIFIER c.-21-42463A>G
c.-21-42463A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15725435
chr12:15725572 C
C
 T
T
 2 a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0034
a0001c0002t0001g0035
 2 HG02451.hp2
NA19240.hp1
HG02451.hp2
NA19240.hp1
 intron_variant MODIFIER c.-21-42600G>A
c.-21-42600G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15725572
chr12:15725703 A
A
 C
C
 2 a0001c0001t0001g0082
a0001c0009t0001g0088
a0001c0001t0001g0082
a0001c0009t0001g0088
 2 HG03017.hp1
HG03017.hp2
HG03017.hp1
HG03017.hp2
 intron_variant MODIFIER c.-21-42731T>G
c.-21-42731T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15725703
chr12:15725720 G
G
 C
C
 1 a0001c0001t0007g0093
a0001c0001t0007g0093
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-42748C>G
c.-21-42748C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15725720
chr12:15725773 G
G
 A
A
 7 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
 7 HG00597.hp2
HG00733.hp2
HG01243.hp2
others(4): Show 
HG00597.hp2
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-42801C>T
c.-21-42801C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15725773
chr12:15725961 C
C
 T
T
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-21-42989G>A
c.-21-42989G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15725961
chr12:15725980 T
T
 C
C
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.-21-43008A>G
c.-21-43008A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15725980
chr12:15725982 A
A
 G
G
 1 a0001c0010t0004g0007
a0001c0010t0004g0007
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.-21-43010T>C
c.-21-43010T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15725982
chr12:15726151 C
C
 T
T
 7 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
 7 HG00597.hp2
HG00733.hp2
HG01243.hp2
others(4): Show 
HG00597.hp2
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-43179G>A
c.-21-43179G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15726151
chr12:15726578 T
T
 C
C
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-21-43606A>G
c.-21-43606A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15726578
chr12:15726684 A
A
 G
G
 41 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(38): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0010t0004g0007
a0002c0004t0001g0079
 41 HG00597.hp2
HG00733.hp2
HG01109.hp1
others(38): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.-21-43712T>C
c.-21-43712T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15726684
chr12:15726732 T
T
 C
C
 1 a0001c0002t0001g0047
a0001c0002t0001g0047
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.-21-43760A>G
c.-21-43760A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15726732
chr12:15727245 G
G
 A
A
 17 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(14): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0003g0004
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0010t0004g0007
 17 HG01109.hp1
HG01109.hp2
HG01891.hp1
others(14): Show 
HG01109.hp1
HG01109.hp2
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02630.hp1
HG02818.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.-21-44273C>T
c.-21-44273C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15727245
chr12:15727374 C
C
 T
T
 7 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
 7 HG00597.hp2
HG00733.hp2
HG01243.hp2
others(4): Show 
HG00597.hp2
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-44402G>A
c.-21-44402G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15727374
chr12:15727669 C
C
 T
T
 1 a0001c0001t0001g0005
a0001c0001t0001g0005
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.-21-44697G>A
c.-21-44697G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15727669
chr12:15727709 T
T
 G
G
 1 a0004c0008t0001g0028
a0004c0008t0001g0028
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.-21-44737A>C
c.-21-44737A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15727709
chr12:15727718 C
C
 T
T
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.-21-44746G>A
c.-21-44746G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15727718
chr12:15727859 A
A
 C
C
 7 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
 7 HG00597.hp2
HG00733.hp2
HG01243.hp2
others(4): Show 
HG00597.hp2
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-44887T>G
c.-21-44887T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15727859
chr12:15727860 A
A
 G
G
 3 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
 3 HG01884.hp1
HG02258.hp1
HG03041.hp1
HG01884.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.-21-44888T>C
c.-21-44888T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15727860
chr12:15727895 T
T
 C
C
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.-21-44923A>G
c.-21-44923A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15727895
chr12:15727930 T
T
 C
C
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-21-44958A>G
c.-21-44958A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15727930
chr12:15727995 C
C
 T
T
 7 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
 7 HG00597.hp2
HG00733.hp2
HG01243.hp2
others(4): Show 
HG00597.hp2
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-45023G>A
c.-21-45023G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15727995
chr12:15728173 C
C
 T
T
 3 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
 3 HG01884.hp1
HG02258.hp1
HG03041.hp1
HG01884.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.-21-45201G>A
c.-21-45201G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15728173
chr12:15728313 G
G
 A
A
 1 a0001c0001t0001g0021
a0001c0001t0001g0021
 1 HG01256.hp2
HG01256.hp2
 intron_variant MODIFIER c.-21-45341C>T
c.-21-45341C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15728313
chr12:15728522 C
C
 G
G
 1 a0001c0010t0004g0007
a0001c0010t0004g0007
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.-21-45550G>C
c.-21-45550G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15728522
chr12:15728910 T
T
 A
A
 1 a0001c0002t0001g0032
a0001c0002t0001g0032
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.-21-45938A>T
c.-21-45938A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15728910
chr12:15728910 T
T
 TA
TA
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-21-45939dupT
c.-21-45939dupT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15728910
chr12:15729035 T
T
 G
G
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-21-46063A>C
c.-21-46063A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15729035
chr12:15729257 C
C
 G
G
 7 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
 7 HG00597.hp2
HG00733.hp2
HG01243.hp2
others(4): Show 
HG00597.hp2
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-46285G>C
c.-21-46285G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15729257
chr12:15729427 T
T
 C
C
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.-21-46455A>G
c.-21-46455A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15729427
chr12:15729865 C
C
 T
T
 1 a0001c0001t0001g0096
a0001c0001t0001g0096
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.-21-46893G>A
c.-21-46893G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15729865
chr12:15730072 C
C
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-21-47100G>A
c.-21-47100G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15730072
chr12:15730104 C
C
 A
A
 17 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(14): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0003g0004
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0010t0004g0007
 17 HG01109.hp1
HG01109.hp2
HG01891.hp1
others(14): Show 
HG01109.hp1
HG01109.hp2
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02630.hp1
HG02818.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.-21-47132G>T
c.-21-47132G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15730104
chr12:15730142 A
A
 C
C
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-21-47170T>G
c.-21-47170T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15730142
chr12:15730194 T
T
 TAC
TAC
 7 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
 7 HG00597.hp2
HG00733.hp2
HG01243.hp2
others(4): Show 
HG00597.hp2
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-47224_-21-4722
others(6): Show 
c.-21-47224_-21-47223dupGT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15730194
chr12:15730260 T
T
 C
C
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.-21-47288A>G
c.-21-47288A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15730260
chr12:15730561 C
C
 T
T
 3 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
 3 HG01884.hp1
HG02258.hp1
HG03041.hp1
HG01884.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.-21-47589G>A
c.-21-47589G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15730561
chr12:15730658 A
A
 G
G
 17 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(14): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0003g0004
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0010t0004g0007
 17 HG01109.hp1
HG01109.hp2
HG01891.hp1
others(14): Show 
HG01109.hp1
HG01109.hp2
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02630.hp1
HG02818.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.-21-47686T>C
c.-21-47686T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15730658
chr12:15730773 T
T
 C
C
 7 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
 7 HG00597.hp2
HG00733.hp2
HG01243.hp2
others(4): Show 
HG00597.hp2
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-47801A>G
c.-21-47801A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15730773
chr12:15731036 TG
TG
 T
T
 7 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
 7 HG00597.hp2
HG00733.hp2
HG01243.hp2
others(4): Show 
HG00597.hp2
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-48065delC
c.-21-48065delC
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15731036
chr12:15731141 T
T
 C
C
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.-21-48169A>G
c.-21-48169A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15731141
chr12:15731305 CT
CT
 C
C
 5 a0001c0001t0001g0042
a0001c0001t0001g0067
a0001c0001t0001g0068
others(2): Show 
a0001c0001t0001g0042
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0002t0001g0032
a0001c0003t0006g0066
 5 HG02559.hp1
HG03486.hp1
HG03516.hp2
others(2): Show 
HG02559.hp1
HG03486.hp1
HG03516.hp2
NA19009.hp1
NA19030.hp2
 intron_variant MODIFIER c.-21-48334delA
c.-21-48334delA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15731305
chr12:15731398 G
G
 A
A
 7 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
 7 HG00597.hp2
HG00733.hp2
HG01243.hp2
others(4): Show 
HG00597.hp2
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-48426C>T
c.-21-48426C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15731398
chr12:15731443 G
G
 C
C
 2 a0001c0001t0001g0024
a0001c0002t0001g0006
a0001c0001t0001g0024
a0001c0002t0001g0006
 2 HG00733.hp2
HG02922.hp1
HG00733.hp2
HG02922.hp1
 intron_variant MODIFIER c.-21-48471C>G
c.-21-48471C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15731443
chr12:15731490 G
G
 C
C
 1 a0001c0002t0008g0023
a0001c0002t0008g0023
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.-21-48518C>G
c.-21-48518C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15731490
chr12:15731500 G
G
 A
A
 3 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
 3 HG01884.hp1
HG02258.hp1
HG03041.hp1
HG01884.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.-21-48528C>T
c.-21-48528C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15731500
chr12:15731661 A
A
 C
C
 3 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
 3 HG01884.hp1
HG02258.hp1
HG03041.hp1
HG01884.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.-21-48689T>G
c.-21-48689T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15731661
chr12:15731667 T
T
 C
C
 7 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
 7 HG00597.hp2
HG00733.hp2
HG01243.hp2
others(4): Show 
HG00597.hp2
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-48695A>G
c.-21-48695A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15731667
chr12:15731984 A
A
 T
T
 17 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(14): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0003g0004
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0010t0004g0007
 17 HG01109.hp1
HG01109.hp2
HG01891.hp1
others(14): Show 
HG01109.hp1
HG01109.hp2
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02630.hp1
HG02818.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.-21-49012T>A
c.-21-49012T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15731984
chr12:15732059 C
C
 T
T
 1 a0001c0002t0001g0040
a0001c0002t0001g0040
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.-21-49087G>A
c.-21-49087G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15732059
chr12:15732198 G
G
 GA
GA
 7 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
 7 HG00597.hp2
HG00733.hp2
HG01243.hp2
others(4): Show 
HG00597.hp2
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-49227dupT
c.-21-49227dupT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15732198
chr12:15732427 G
G
 A
A
 17 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(14): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0003g0004
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0010t0004g0007
 17 HG01109.hp1
HG01109.hp2
HG01891.hp1
others(14): Show 
HG01109.hp1
HG01109.hp2
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02630.hp1
HG02818.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.-21-49455C>T
c.-21-49455C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15732427
chr12:15732497 C
C
 A
A
 7 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
 7 HG00597.hp2
HG00733.hp2
HG01243.hp2
others(4): Show 
HG00597.hp2
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-49525G>T
c.-21-49525G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15732497
chr12:15732740 A
A
 G
G
 3 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
 3 HG01884.hp1
HG02258.hp1
HG03041.hp1
HG01884.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.-21-49768T>C
c.-21-49768T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15732740
chr12:15732777 C
C
 T
T
 4 a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
others(1): Show 
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
 4 HG02451.hp1
HG02630.hp1
HG02818.hp1
others(1): Show 
HG02451.hp1
HG02630.hp1
HG02818.hp1
HG03139.hp1
 intron_variant MODIFIER c.-21-49805G>A
c.-21-49805G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15732777
chr12:15732853 TTGA
TTGA
 T
T
 7 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
 7 HG00597.hp2
HG00733.hp2
HG01243.hp2
others(4): Show 
HG00597.hp2
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-49884_-21-4988
others(7): Show 
c.-21-49884_-21-49882delTCA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15732853
chr12:15732857 A
A
 G
G
 7 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
 7 HG00597.hp2
HG00733.hp2
HG01243.hp2
others(4): Show 
HG00597.hp2
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-49885T>C
c.-21-49885T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15732857
chr12:15733252 G
G
 A
A
 2 a0001c0001t0001g0058
a0001c0001t0009g0057
a0001c0001t0001g0058
a0001c0001t0009g0057
 2 HG02258.hp2
NA18906.hp2
HG02258.hp2
NA18906.hp2
 intron_variant MODIFIER c.-21-50280C>T
c.-21-50280C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15733252
chr12:15733495 T
T
 C
C
 11 a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
others(8): Show 
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0002c0004t0001g0062
a0002c0004t0001g0079
 11 HG02109.hp1
HG02145.hp1
HG02630.hp2
others(8): Show 
HG02109.hp1
HG02145.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-21-50523A>G
c.-21-50523A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15733495
chr12:15733637 A
A
 C
C
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-21-50665T>G
c.-21-50665T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15733637
chr12:15733900 C
C
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-21-50928G>A
c.-21-50928G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15733900
chr12:15733977 G
G
 A
A
 2 a0001c0001t0001g0024
a0001c0002t0001g0006
a0001c0001t0001g0024
a0001c0002t0001g0006
 2 HG00733.hp2
HG02922.hp1
HG00733.hp2
HG02922.hp1
 intron_variant MODIFIER c.-21-51005C>T
c.-21-51005C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15733977
chr12:15734297 A
A
 G
G
 2 a0001c0001t0001g0024
a0001c0002t0001g0006
a0001c0001t0001g0024
a0001c0002t0001g0006
 2 HG00733.hp2
HG02922.hp1
HG00733.hp2
HG02922.hp1
 intron_variant MODIFIER c.-21-51325T>C
c.-21-51325T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15734297
chr12:15734422 C
C
 T
T
 7 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
 7 HG00597.hp2
HG00733.hp2
HG01243.hp2
others(4): Show 
HG00597.hp2
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-51450G>A
c.-21-51450G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15734422
chr12:15734542 G
G
 A
A
 7 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
 7 HG00597.hp2
HG00733.hp2
HG01243.hp2
others(4): Show 
HG00597.hp2
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-51570C>T
c.-21-51570C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15734542
chr12:15734740 A
A
 C
C
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-21-51768T>G
c.-21-51768T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15734740
chr12:15734801 C
C
 T
T
 1 a0001c0001t0002g0009
a0001c0001t0002g0009
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.-21-51829G>A
c.-21-51829G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15734801
chr12:15734876 T
T
 C
C
 86 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(83): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 86 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(83): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-51904A>G
c.-21-51904A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15734876
chr12:15735004 A
A
 G
G
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-21-52032T>C
c.-21-52032T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15735004
chr12:15735027 T
T
 TA
TA
 6 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(3): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0002t0001g0006
 6 HG00733.hp2
HG01243.hp2
HG02622.hp1
others(3): Show 
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-52056dupT
c.-21-52056dupT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15735027
chr12:15735091 G
G
 A
A
 22 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(19): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0003g0004
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0010t0004g0007
 22 HG00597.hp2
HG00733.hp2
HG01109.hp1
others(19): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp2
HG01891.hp1
HG02055.hp1
HG02451.hp1
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02922.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03471.hp1
HG03471.hp2
NA18906.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.-21-52119C>T
c.-21-52119C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15735091
chr12:15735154 T
T
 C
C
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-21-52182A>G
c.-21-52182A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15735154
chr12:15735826 C
C
 G
G
 22 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(19): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0003g0004
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0010t0004g0007
 22 HG00597.hp2
HG00733.hp2
HG01109.hp1
others(19): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp2
HG01891.hp1
HG02055.hp1
HG02451.hp1
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02922.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03471.hp1
HG03471.hp2
NA18906.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.-21-52854G>C
c.-21-52854G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15735826
chr12:15735876 A
A
 G
G
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-21-52904T>C
c.-21-52904T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15735876
chr12:15735877 CAA
CAA
 C
C
 2 a0001c0001t0001g0058
a0001c0001t0009g0057
a0001c0001t0001g0058
a0001c0001t0009g0057
 2 HG02258.hp2
NA18906.hp2
HG02258.hp2
NA18906.hp2
 intron_variant MODIFIER c.-21-52907_-21-5290
others(6): Show 
c.-21-52907_-21-52906delTT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15735877
chr12:15736032 C
C
 T
T
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.-21-53060G>A
c.-21-53060G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15736032
chr12:15736097 G
G
 C
C
 3 a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
 3 HG02451.hp1
HG02630.hp1
HG02818.hp1
HG02451.hp1
HG02630.hp1
HG02818.hp1
 intron_variant MODIFIER c.-22+53064C>G
c.-22+53064C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15736097
chr12:15736202 A
A
 G
G
 12 a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
others(9): Show 
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0002c0004t0001g0079
 12 HG02055.hp2
HG02109.hp1
HG02145.hp1
others(9): Show 
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+52959T>C
c.-22+52959T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15736202
chr12:15736221 T
T
 C
C
 33 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(30): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0008g0023
a0001c0010t0004g0007
a0002c0004t0001g0079
 33 HG00597.hp2
HG00733.hp2
HG01109.hp1
others(30): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.-22+52940A>G
c.-22+52940A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15736221
chr12:15736765 C
C
 G
G
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-22+52396G>C
c.-22+52396G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15736765
chr12:15736784 C
C
 A
A
 1 a0001c0002t0003g0003
a0001c0002t0003g0003
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.-22+52377G>T
c.-22+52377G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15736784
chr12:15736802 G
G
 A
A
 101 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(98): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 101 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(98): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-22+52359C>T
c.-22+52359C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15736802
chr12:15736851 G
G
 A
A
 26 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(23): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0008g0023
a0001c0010t0004g0007
a0002c0004t0001g0079
 26 HG01109.hp1
HG01109.hp2
HG01884.hp1
others(23): Show 
HG01109.hp1
HG01109.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02630.hp2
HG02717.hp1
HG02886.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA19030.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.-22+52310C>T
c.-22+52310C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15736851
chr12:15736906 T
T
 A
A
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+52255A>T
c.-22+52255A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15736906
chr12:15737012 T
T
 G
G
 1 a0004c0008t0001g0028
a0004c0008t0001g0028
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.-22+52149A>C
c.-22+52149A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15737012
chr12:15737393 T
T
 C
C
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+51768A>G
c.-22+51768A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15737393
chr12:15737523 T
T
 C
C
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.-22+51638A>G
c.-22+51638A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15737523
chr12:15737574 T
T
 C
C
 4 a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
others(1): Show 
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
 4 HG02451.hp1
HG02630.hp1
HG02818.hp1
others(1): Show 
HG02451.hp1
HG02630.hp1
HG02818.hp1
HG03139.hp1
 intron_variant MODIFIER c.-22+51587A>G
c.-22+51587A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15737574
chr12:15737756 T
T
 C
C
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-22+51405A>G
c.-22+51405A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15737756
chr12:15737821 C
C
 T
T
 2 a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0067
a0001c0001t0001g0068
 2 HG02559.hp1
HG03516.hp2
HG02559.hp1
HG03516.hp2
 intron_variant MODIFIER c.-22+51340G>A
c.-22+51340G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15737821
chr12:15737822 G
G
 A
A
 1 a0002c0004t0001g0062
a0002c0004t0001g0062
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.-22+51339C>T
c.-22+51339C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15737822
chr12:15737903 T
T
 C
C
 2 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0024
a0001c0001t0001g0025
 2 HG00597.hp2
HG00733.hp2
HG00597.hp2
HG00733.hp2
 intron_variant MODIFIER c.-22+51258A>G
c.-22+51258A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15737903
chr12:15737914 T
T
 C
C
 3 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
 3 HG01884.hp1
HG02258.hp1
HG03041.hp1
HG01884.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.-22+51247A>G
c.-22+51247A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15737914
chr12:15737942 T
T
 C
C
 2 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0024
a0001c0001t0001g0025
 2 HG00597.hp2
HG00733.hp2
HG00597.hp2
HG00733.hp2
 intron_variant MODIFIER c.-22+51219A>G
c.-22+51219A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15737942
chr12:15737993 C
C
 T
T
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.-22+51168G>A
c.-22+51168G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15737993
chr12:15738008 GCTAAA
GCTAAA
 G
G
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+51148_-22+5115
others(9): Show 
c.-22+51148_-22+51152delTTTAG
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15738008
chr12:15738014 C
C
 T
T
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+51147G>A
c.-22+51147G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15738014
chr12:15738019 A
A
 T
T
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+51142T>A
c.-22+51142T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15738019
chr12:15738020 G
G
 T
T
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+51141C>A
c.-22+51141C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15738020
chr12:15738083 C
C
 T
T
 7 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 7 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(4): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.-22+51078G>A
c.-22+51078G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15738083
chr12:15738325 C
C
 T
T
 2 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0024
a0001c0001t0001g0025
 2 HG00597.hp2
HG00733.hp2
HG00597.hp2
HG00733.hp2
 intron_variant MODIFIER c.-22+50836G>A
c.-22+50836G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15738325
chr12:15738626 T
T
 A
A
 1 a0001c0002t0001g0032
a0001c0002t0001g0032
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.-22+50535A>T
c.-22+50535A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15738626
chr12:15738672 A
A
 C
C
 1 a0001c0001t0001g0100
a0001c0001t0001g0100
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.-22+50489T>G
c.-22+50489T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15738672
chr12:15738743 GT
GT
 G
G
 6 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(3): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
 6 HG00597.hp2
HG00733.hp2
HG01243.hp2
others(3): Show 
HG00597.hp2
HG00733.hp2
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+50417delA
c.-22+50417delA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15738743
chr12:15739012 C
C
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-22+50149G>A
c.-22+50149G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15739012
chr12:15739016 G
G
 C
C
 1 a0001c0002t0001g0069
a0001c0002t0001g0069
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.-22+50145C>G
c.-22+50145C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15739016
chr12:15739024 A
A
 C
C
 14 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(11): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 14 HG00597.hp2
HG00733.hp2
HG01109.hp2
others(11): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp2
HG01243.hp2
HG01891.hp1
HG02622.hp1
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+50137T>G
c.-22+50137T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15739024
chr12:15739428 G
G
 C
C
 3 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
 3 HG01884.hp1
HG02258.hp1
HG03041.hp1
HG01884.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.-22+49733C>G
c.-22+49733C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15739428
chr12:15739438 G
G
 T
T
 29 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(26): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0001c0010t0004g0007
a0002c0004t0001g0079
 29 HG00597.hp2
HG00733.hp2
HG01109.hp2
others(26): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+49723C>A
c.-22+49723C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15739438
chr12:15739522 G
G
 A
A
 1 a0001c0002t0001g0063
a0001c0002t0001g0063
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.-22+49639C>T
c.-22+49639C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15739522
chr12:15739621 C
C
 A
A
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+49540G>T
c.-22+49540G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15739621
chr12:15739769 T
T
 C
C
 29 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(26): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0001c0010t0004g0007
a0002c0004t0001g0079
 29 HG00597.hp2
HG00733.hp2
HG01109.hp2
others(26): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+49392A>G
c.-22+49392A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15739769
chr12:15739877 A
A
 G
G
 12 a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
others(9): Show 
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0002c0004t0001g0079
 12 HG02055.hp2
HG02109.hp1
HG02145.hp1
others(9): Show 
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+49284T>C
c.-22+49284T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15739877
chr12:15739912 T
T
 C
C
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+49249A>G
c.-22+49249A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15739912
chr12:15739952 T
T
 C
C
 1 a0001c0002t0001g0032
a0001c0002t0001g0032
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.-22+49209A>G
c.-22+49209A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15739952
chr12:15739956 G
G
 A
A
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+49205C>T
c.-22+49205C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15739956
chr12:15739993 A
A
 G
G
 1 a0001c0010t0004g0007
a0001c0010t0004g0007
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.-22+49168T>C
c.-22+49168T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15739993
chr12:15740033 C
C
 T
T
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.-22+49128G>A
c.-22+49128G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15740033
chr12:15740103 T
T
 A
A
 2 a0001c0001t0001g0082
a0001c0009t0001g0088
a0001c0001t0001g0082
a0001c0009t0001g0088
 2 HG03017.hp1
HG03017.hp2
HG03017.hp1
HG03017.hp2
 intron_variant MODIFIER c.-22+49058A>T
c.-22+49058A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15740103
chr12:15740262 G
G
 C
C
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-22+48899C>G
c.-22+48899C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15740262
chr12:15740485 C
C
 T
T
 7 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 7 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(4): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.-22+48676G>A
c.-22+48676G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15740485
chr12:15740564 A
A
 AAAAT
AAAAT
 6 a0001c0001t0001g0024
a0001c0001t0001g0041
a0001c0001t0002g0009
others(3): Show 
a0001c0001t0001g0024
a0001c0001t0001g0041
a0001c0001t0002g0009
a0001c0001t0002g0026
a0001c0001t0010g0049
a0001c0003t0004g0039
 6 HG00733.hp2
HG01891.hp1
HG02109.hp2
others(3): Show 
HG00733.hp2
HG01891.hp1
HG02109.hp2
HG02258.hp1
NA19009.hp2
NA19063.hp2
 intron_variant MODIFIER c.-22+48593_-22+4859
others(8): Show 
c.-22+48593_-22+48596dupATTT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15740564
chr12:15740564 AAAAT
AAAAT
 A
A
 5 a0001c0001t0001g0011
a0001c0001t0001g0087
a0001c0001t0001g0096
others(2): Show 
a0001c0001t0001g0011
a0001c0001t0001g0087
a0001c0001t0001g0096
a0001c0002t0001g0010
a0001c0010t0004g0007
 5 HG03130.hp1
HG03471.hp1
HG03471.hp2
others(2): Show 
HG03130.hp1
HG03471.hp1
HG03471.hp2
HG03579.hp2
NA19087.hp2
 intron_variant MODIFIER c.-22+48593_-22+4859
others(8): Show 
c.-22+48593_-22+48596delATTT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15740564
chr12:15740564 AAAATAAA
others(1): Show 
AAAATAAAT
 A
A
 7 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
 7 HG01109.hp1
HG01243.hp2
HG02055.hp1
others(4): Show 
HG01109.hp1
HG01243.hp2
HG02055.hp1
HG02622.hp1
HG02717.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.-22+48589_-22+4859
others(12): Show 
c.-22+48589_-22+48596delATTTATTT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15740564
chr12:15740788 C
C
 T
T
 2 a0001c0002t0001g0080
a0002c0004t0001g0079
a0001c0002t0001g0080
a0002c0004t0001g0079
 2 HG02630.hp2
HG03098.hp2
HG02630.hp2
HG03098.hp2
 intron_variant MODIFIER c.-22+48373G>A
c.-22+48373G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15740788
chr12:15740808 A
A
 G
G
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+48353T>C
c.-22+48353T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15740808
chr12:15740826 G
G
 A
A
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+48335C>T
c.-22+48335C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15740826
chr12:15740884 T
T
 C
C
 1 a0002c0004t0001g0081
a0002c0004t0001g0081
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.-22+48277A>G
c.-22+48277A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15740884
chr12:15740887 G
G
 A
A
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+48274C>T
c.-22+48274C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15740887
chr12:15740911 G
G
 A
A
 2 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0024
a0001c0001t0001g0025
 2 HG00597.hp2
HG00733.hp2
HG00597.hp2
HG00733.hp2
 intron_variant MODIFIER c.-22+48250C>T
c.-22+48250C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15740911
chr12:15741026 G
G
 A
A
 7 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 7 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(4): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.-22+48135C>T
c.-22+48135C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15741026
chr12:15741250 G
G
 A
A
 2 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0024
a0001c0001t0001g0025
 2 HG00597.hp2
HG00733.hp2
HG00597.hp2
HG00733.hp2
 intron_variant MODIFIER c.-22+47911C>T
c.-22+47911C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15741250
chr12:15741401 C
C
 T
T
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+47760G>A
c.-22+47760G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15741401
chr12:15741456 C
C
 A
A
 7 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 7 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(4): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.-22+47705G>T
c.-22+47705G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15741456
chr12:15741573 C
C
 A
A
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+47588G>T
c.-22+47588G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15741573
chr12:15741633 G
G
 A
A
 2 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0024
a0001c0001t0001g0025
 2 HG00597.hp2
HG00733.hp2
HG00597.hp2
HG00733.hp2
 intron_variant MODIFIER c.-22+47528C>T
c.-22+47528C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15741633
chr12:15741706 C
C
 G
G
 2 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0024
a0001c0001t0001g0025
 2 HG00597.hp2
HG00733.hp2
HG00597.hp2
HG00733.hp2
 intron_variant MODIFIER c.-22+47455G>C
c.-22+47455G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15741706
chr12:15741827 A
A
 G
G
 1 a0001c0002t0001g0072
a0001c0002t0001g0072
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.-22+47334T>C
c.-22+47334T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15741827
chr12:15741857 C
C
 T
T
 3 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
 3 HG01884.hp1
HG02258.hp1
HG03041.hp1
HG01884.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.-22+47304G>A
c.-22+47304G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15741857
chr12:15742055 A
A
 G
G
 12 a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
others(9): Show 
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0002c0004t0001g0079
 12 HG02055.hp2
HG02109.hp1
HG02145.hp1
others(9): Show 
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+47106T>C
c.-22+47106T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15742055
chr12:15742158 G
G
 C
C
 1 a0001c0001t0001g0096
a0001c0001t0001g0096
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.-22+47003C>G
c.-22+47003C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15742158
chr12:15742173 T
T
 C
C
 1 a0001c0007t0012g0015
a0001c0007t0012g0015
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.-22+46988A>G
c.-22+46988A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15742173
chr12:15742175 T
T
 C
C
 7 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 7 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(4): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.-22+46986A>G
c.-22+46986A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15742175
chr12:15742182 A
A
 C
C
 1 a0001c0001t0001g0096
a0001c0001t0001g0096
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.-22+46979T>G
c.-22+46979T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15742182
chr12:15742637 T
T
 A
A
 3 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0006
 3 HG00597.hp2
HG00733.hp2
HG02922.hp1
HG00597.hp2
HG00733.hp2
HG02922.hp1
 intron_variant MODIFIER c.-22+46524A>T
c.-22+46524A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15742637
chr12:15742751 T
T
 G
G
 14 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0069
others(11): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0002c0004t0001g0079
 14 HG00597.hp2
HG00733.hp2
HG02055.hp2
others(11): Show 
HG00597.hp2
HG00733.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+46410A>C
c.-22+46410A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15742751
chr12:15742943 A
A
 G
G
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+46218T>C
c.-22+46218T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15742943
chr12:15743018 G
G
 A
A
 1 a0002c0004t0001g0081
a0002c0004t0001g0081
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.-22+46143C>T
c.-22+46143C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15743018
chr12:15743019 T
T
 G
G
 1 a0002c0004t0001g0081
a0002c0004t0001g0081
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.-22+46142A>C
c.-22+46142A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15743019
chr12:15743038 T
T
 G
G
 7 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 7 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(4): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.-22+46123A>C
c.-22+46123A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15743038
chr12:15743087 C
C
 CAAAAATC
others(315): Show 
CAAAAATCACAAGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA
CTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCAT
CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG
CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG
CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATC
CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA
AAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 HG01071.hp1
HG01071.hp1
 intron_variant MODIFIER c.-22+46073_-22+4607
others(326): Show 
c.-22+46073_-22+46074insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT
CTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT
CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA
ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG
GTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGC
TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCTTGTGATTTTT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15743087
chr12:15743163 T
T
 C
C
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+45998A>G
c.-22+45998A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15743163
chr12:15743318 G
G
 A
A
 7 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 7 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(4): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.-22+45843C>T
c.-22+45843C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15743318
chr12:15743411 A
A
 C
C
 1 a0001c0002t0001g0010
a0001c0002t0001g0010
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.-22+45750T>G
c.-22+45750T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15743411
chr12:15743527 A
A
 G
G
 7 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 7 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(4): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.-22+45634T>C
c.-22+45634T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15743527
chr12:15743567 T
T
 C
C
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+45594A>G
c.-22+45594A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15743567
chr12:15743683 T
T
 C
C
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-22+45478A>G
c.-22+45478A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15743683
chr12:15743727 G
G
 A
A
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-22+45434C>T
c.-22+45434C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15743727
chr12:15744150 C
C
 T
T
 12 a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
others(9): Show 
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0002c0004t0001g0079
 12 HG02055.hp2
HG02109.hp1
HG02145.hp1
others(9): Show 
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+45011G>A
c.-22+45011G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15744150
chr12:15744313 G
G
 C
C
 1 a0002c0004t0001g0062
a0002c0004t0001g0062
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.-22+44848C>G
c.-22+44848C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15744313
chr12:15744504 T
T
 C
C
 4 a0001c0001t0003g0004
a0001c0002t0003g0001
a0001c0002t0003g0002
others(1): Show 
a0001c0001t0003g0004
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
 4 HG01109.hp1
HG02055.hp1
NA18906.hp1
others(1): Show 
HG01109.hp1
HG02055.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.-22+44657A>G
c.-22+44657A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15744504
chr12:15744758 A
A
 G
G
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+44403T>C
c.-22+44403T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15744758
chr12:15744828 T
T
 C
C
 1 a0001c0007t0012g0015
a0001c0007t0012g0015
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.-22+44333A>G
c.-22+44333A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15744828
chr12:15744908 G
G
 A
A
 2 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0024
a0001c0001t0001g0025
 2 HG00597.hp2
HG00733.hp2
HG00597.hp2
HG00733.hp2
 intron_variant MODIFIER c.-22+44253C>T
c.-22+44253C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15744908
chr12:15744936 C
C
 T
T
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.-22+44225G>A
c.-22+44225G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15744936
chr12:15745005 T
T
 A
A
 7 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 7 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(4): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.-22+44156A>T
c.-22+44156A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15745005
chr12:15745021 G
G
 A
A
 28 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(25): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0042
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0001c0010t0004g0007
a0002c0004t0001g0079
 28 HG01109.hp2
HG01243.hp2
HG01884.hp1
others(25): Show 
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp1
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+44140C>T
c.-22+44140C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15745021
chr12:15745138 G
G
 A
A
 4 a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
others(1): Show 
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
 4 HG02451.hp1
HG02630.hp1
HG02818.hp1
others(1): Show 
HG02451.hp1
HG02630.hp1
HG02818.hp1
HG03139.hp1
 intron_variant MODIFIER c.-22+44023C>T
c.-22+44023C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15745138
chr12:15745242 A
A
 T
T
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+43919T>A
c.-22+43919T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15745242
chr12:15745258 T
T
 C
C
 2 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0024
a0001c0001t0001g0025
 2 HG00597.hp2
HG00733.hp2
HG00597.hp2
HG00733.hp2
 intron_variant MODIFIER c.-22+43903A>G
c.-22+43903A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15745258
chr12:15745292 T
T
 C
C
 1 a0001c0002t0001g0032
a0001c0002t0001g0032
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.-22+43869A>G
c.-22+43869A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15745292
chr12:15745370 A
A
 C
C
 1 a0001c0001t0001g0094
a0001c0001t0001g0094
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.-22+43791T>G
c.-22+43791T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15745370
chr12:15745558 C
C
 CA
CA
 80 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(77): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0086
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0004c0008t0001g0028
 80 HG00597.hp1
HG00621.hp2
HG00733.hp1
others(77): Show 
HG00597.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02132.hp1
HG02132.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03831.hp1
HG03831.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-22+43602dupT
c.-22+43602dupT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15745558
chr12:15745558 C
C
 CAAA
CAAA
 11 a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
others(8): Show 
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0002c0004t0001g0079
 11 HG02055.hp2
HG02109.hp1
HG02145.hp1
others(8): Show 
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+43600_-22+4360
others(7): Show 
c.-22+43600_-22+43602dupTTT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15745558
chr12:15745857 T
T
 C
C
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-22+43304A>G
c.-22+43304A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15745857
chr12:15746139 G
G
 T
T
 29 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(26): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0001c0010t0004g0007
a0002c0004t0001g0079
 29 HG00597.hp2
HG00733.hp2
HG01109.hp2
others(26): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+43022C>A
c.-22+43022C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15746139
chr12:15746146 T
T
 C
C
 2 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0024
a0001c0001t0001g0025
 2 HG00597.hp2
HG00733.hp2
HG00597.hp2
HG00733.hp2
 intron_variant MODIFIER c.-22+43015A>G
c.-22+43015A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15746146
chr12:15746257 C
C
 G
G
 1 a0001c0002t0001g0032
a0001c0002t0001g0032
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.-22+42904G>C
c.-22+42904G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15746257
chr12:15746365 C
C
 A
A
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+42796G>T
c.-22+42796G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15746365
chr12:15746366 A
A
 T
T
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+42795T>A
c.-22+42795T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15746366
chr12:15746367 C
C
 A
A
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+42794G>T
c.-22+42794G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15746367
chr12:15746373 GCTTACTC
others(7188): Show 
GCTTACTCTTCAAATTTTCTCACTGATTTTAATGGCACTTCCTTTCTCCT
CATCACTCTAGCCATTGATGACTCCATCATCACATGTCTGGATAATCAAA
ATGAGCTTAACTGGTCTTCCAATTTTAAATAACTTCCCCCTTCTAATCAA
TCTTCTTTTTCTAAGACTATAAGAATTTATTCAAAAAGCACTGCTTTTAT
TTTGCTTTCCTCTCTCCCAGAACCAACATTGGCAACACATGAGATCGTAT
AACAGAAGAAACATTAACTTATTAATCAAGAAGCTTGGGTTCCAGCCCCA
GTTCCTCTACTCAGTAATTTGAGCAACTCAATTTGGTTTCCTTACCTGAA
AAGCAAGTCCTGGATTAGAAGAGCTCTGGAATCCCTTCTATTGAAAAACA
ACAAATCTCTTATCCTGGAATTCATGGCCCACCATAATTTAGCTAATCAA
ACTCATCTACAAGCATCCCCCTAAGCATATACTCCTACTGTCCACTACTG
TTTGCATGCTCCTGAATTATGTTAGTTACCATAGTGCCCTACTAACTAGT
TCTTCTTATAAAATGAACTCACCCTCCTTTCTTACCAAAACTATTCTAAA
ACAGAGGGGTTAACAAGGGACTCCTTTCTTCTTTGCCTTTTTCTGATATT
TTTAAATCCTCAACAGTCAATACATATTTTGTACGCAGGAAGTGTTCAGA
GAAAATAAACAAACTTTTCAAACCAGAACTACAAAGTAAAATTATCTCAA
TGCATAAAGCCAACCTAGTAACCCTCAATAATATATCCTATTTTTCTTGC
TAGAGATTATTTGCTGTACACATTTGGATATTAACTTTAAAACTTAACCT
GTATAAACTGTGGCTCTAATGTAAAGACTCAATAGTTAATAAACTGATTT
TATTTTGGTTCTTTTAAGTGCATGGTCTAATTTATTAATGGTAAGCTGAA
GTGGATACTATATATAGCTAATATGGTTATCAGAAAGTGCTTAATCTTAG
TACATTAACAAACTTACTCCATTTCCTAGAAACCCAATCTGTTTTTCAAA
CCAAAATGCACTATTTTAGGAGCAGCTGGTTAGTTCCAGTACTACCAATT
CAGTAATCTTATAAGTTAAATTATTTTTGTGAACTGATAGAGAACCCCCA
GTTACCATCTACAACACTGCATTAGTAAGAAAGTGGCAAATGATCAAAAA
AGTAACTTGGGGGGAGCCCAAAACATATTTTCCTTTCCCTCAGCCATCAT
TCAGCTTACAGAAAGAAGAAATGAATGATCCAGAGATATTATCCTATTCT
CCAGAATCTTCAGTGACTTGATTTCAATATAAAACAGGACAAATACTCCA
ATTTAAGAAAAAAAATAGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAG
CACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACC
ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAGAATT
AGCCGGACGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGTCTGA
GGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGATTGCAGTGAGCCGAGA
TCACACCACTGCACTCCAGCCTTGGCAACAGAGCAAGACTCCATCTCAAA
ATCAAAAACAAAAACAAAACAAAAAAAAGTAATGCCTCATGCATGCAAAA
AAGGCAGAGAATTTGCTATCAAAAGGTCTGTGCCAAGCCCCGCAACTTAA
TAACCCACAGTCAAATCTCAGAGCCTCTTATCCTCAGATTCCTTAACAGC
AAAATGGGAAATAATCATAATACCAACCTTGTCTACTGCATAAGATCACT
GAGAAGCAAATGATATAATAATGTAAAATGTTTTGAAAACTTCGAAATTC
TTCACAAATATCAATTAAAATATTATGAAGTAATATTCTTAAGTCAAATG
CTCACCAATTTTAAGTATTCATCTATTACCAAATAAATTCACCTAGTAGG
AAAACTAAAGTGATGAGGATTAGAAAGGAAAGAATTATCCTCAATAATAT
CAATTTTCTAAGTCTGGGTTTTTACACATCTTGTTTTTTTTTAAAGTAGG
ACACACAAAACTCTACAGAAACAATTTCAGTGAATTAAGTGTCTGAATAC
CTACACCTTTTCTTAAAGATCTCCAGGGAGAGAAATTCCACAGCTCCCTT
GGTATTTTTCACTCTGGATCTGAACAACTCAAATAAAGTATAAACACGTA
GCTTTCATTCCTTTCATCTGATATAAAGAAAAGAAAATATGCCCAGTTAG
TTTAAAATGGAATAACTCTAGATAGAAAATTCTATTCTGCAACAAGTTTT
ATGTCAGGTAAAGACAGAATATCCAATGTATAACAGATCTAAGCTTTTTC
TCTTTTATTCACATATCCTCCTGAAAGGGCGAAAACATCCATTGCCTAGC
CCCGCCTCACCAAAAAAAGCCTATCTGGTTTCCTAATTTTCATAATGGAA
TGCTAACTTTGACACTTGCTAATCCAGAATATAAAACGTATAGTCTTCTC
TTCCTTTCATACCATAGAACATCAGCACTTTATGTACTTGTCAAATGTTA
ATGTTAAACTCCAGCAAAAGCAAATACTGAGACAACTGATGCTAGAGAGA
ACTTAAGGCCCTTTTAACTATTTTTGTCAAGATCCATCCTAGTGTTCTTT
TGGAAGAGCTAAATGTAATACTGTTGAACTATATTACCTTAATTTGTCAT
AAAATGTATTGATTACCTGACTATTTAAGATTATGCCTTAGGCTCTCACT
AAGGGCCAATATAGGAAACAAGTAATTAAAAAAAAATTTATTCTGGTTTC
CAACACTGTCCAATAGGTTTTTCAATATATCTTTTAATATAATATCCTTT
TATAGCACTCGCTGTCTGTGGCATTTCATTGACAATTCATGCATTATAAT
TTATTGAAATTCTTATTTGCTTGTCTATCACTTACCCTGCACAGTATACT
CAAGAGCAGGAATGTCTTGTTCAACATTATTTCTCAAATGCTAAGCAAAG
GGCCTGCACATAATAGAGCTCAATAATCATTTGCCTAATGAATAAATCAT
TTATTGTAATTTGTTTCCAAGATATATGTTCAGTCCAAAATAGAAAATAA
TCTCCTTACAAGAAAACACACGCCTTTTGTTTATCTTCTTCACTCTGGCT
GCGACTATGCCTCACTCAGAGAAGGGACTCAATAAATACTTGATGATGAC
AATAACCATTATGATAGTGGTAGTGGTAGGAAGAAAAATTAACCTAATCA
AAACAACATATATCATATTGTTCATAATATCTTCATATTGCATTGTTCAT
TAAAATCAAATATAAAATTAAGTGATTACATGTTGAGATTATAGATATTT
TCTTCTTTATTTTCTGTTTTCTAACATTAGTTAGGGAATATTAGTTGTGC
TTCCACACACCAGTAAGCCCAAAATAAATCAGTTCCTTATGTAAACAAAA
TCTAGTAGACTATAGTAATTCATCTAAGAAAAACGAATCTCCTTCTGTAG
AATAGTTACACTTCAGAAACCTAAAAGCCCACTGCCTTTTGTTCCTTTTG
TCTAAGATTTCAGATAACTTTCCTCTGTTTCTCCCTGCTGAGGACAACTG
CCTCCAGAATTGGACTCTATCTCTCTAAACCTGCCGGGTGCTTGGATGAA
GATAAGAAGAAAACGGGGAGCCAAGAGTGACAACGATCTCCCACCCTGTA
GAGGATACACCTGCCACTCCAGTGCTCAGTGAGTGTTTGCCACGGCCCTG
CCCTAATTCCAACTCCAGTTTTAGTTCATAGCTAACAAAGCAATTGTCCC
TGACAAGCAAGCTTGGCTTTACACTACATCCTATGGCAGACATACATGCA
CATGCACACACACAAAAAAATTCTCCTATTTACATGAAACAATGTTTATT
GCAATCCAAGATGCTTTGATCCCATAAGCAGTCCAATCACTCAGTGAAGA
TAAAAACCTAAAAAAGAAATTCCTTTACATATGTCTATCAAGATAAACTC
CCCCCACTCAATTTGAGCATTTGGGTTGTACTCTAGATAGGTTTCATTTT
CCAGAATCATAGTGTTTGAAAAGTATACATCTTTATGGTCTAATATGGAC
AATGTTAGAGTCCAGAAGTACAGGTAGATGAAGAGATGAATCTGACACCT
GGAAATATTCACTCTGGTTCCCAGATTCAAGGAGCCTCAAGCAGTGAACA
ACTGCTCAACACCAACCACAGGATGCCAAAGTAGACCAGTGAGAATGAAA
ACAGTGGATGCTTTTCATCACTTTGCTGAGTACTTGAAACCATAGCTATT
ATTTATATGATACTGAATAGAAACATACTTACAGCATTGTTGTGTGTAAA
CATGTTGACTATCCATATAAGCAATTTTTAAAGACCATGTTTTAGAAACA
TATCTACCAATTAAGATTCTGGATTTATATTAACTCAAAAAGAAGCATCT
TATGTAAAAATATCCCTTCTTTTTTTAGTATCAAAAGGATTTTCTTTCTG
AACCCTTCGGCTCAAATTACAGTACATTGCAAGAACAAAATTCTTAGTAC
ATTAGACAGTAAAAGTAAATGTTAAGATCAGAAGGACACTGTTTCTCTCC
TTGTCACAATAAGGACCAAATCCTTAGTTCAGCATTCAAGAATCCACATT
ATCACCAGGCTTGGTGGCACATGCCTGTAAATCCCAGCTCTTTGGGAGGA
CGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCAGGCCAA
CATAGTGAAACTCTGTCTCTACTAAAAATATAAAAATTAGCCACACGTAG
TGGTGTGTGCCTGTAATCCCAGCTACTAGCAAGGCTGAGGCAGGAGAATC
GCTTGAACCTGGGAGATAAAGGCTGCAGTGAGCTGAGATCACGCCACTGC
ACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAACAAAAAAAAGAAT
CCACATTATCAATTTCTGCCTTCTAGCCTCAACGCCACTGATCCCAACAT
TTATTCATTCATTTTGCCAAAACTATATGGCACTATAGCAATAAACAAGG
CCACAATGATCCCAGTCCTAAAAAGCTCACATTCAAGTGTCCTCCAGACA
AACCGGTCAATTAGTGTGCCTCCACAAACACTTATTCAACAAATATTTAA
TGGACAGATTCAATACTGGGCAGTTTCAGACACTAGGGACATAGCAGTAA
AAAAAGGGGGCAAGATTTTTTGCCTTTACAAAGGTCACAACCTAGTGAAT
GAAAGAATATACCCGTCCCTTGTACTTTTATGCTATGTTCATGCCATTTC
GCTCTCTCCTCCCTCCCTCCTCTATACTTTCCCTCCTCCTTAGTATCCTT
CTTACCATACTCTACTTACACCATAGCTCAGACAACATGTTAGACGTTAA
CTAGACTTCTGATGAAGTCTCCCTTACATGATAAAATACACTGAGACTCA
AGCAGGAGTTAAATCTGGCATGTGTGTAGGCATGGGCGTGGGGGAGGTGG
AGAGCCAGAAAAGTGTAGAAAATCAAGGAGGATTAAGAGATTCTGGGCAG
GTTTCTAAGGCCAAGGCAAAGTGCCAATACAGGAAATCAGTGACTGGATT
TGAGGTATAGTTGAGAATTTCATCATACAAGCAAGACAGAAGGCCAGTTA
TCAGACTGAGACACAAAGTTAATACAGAATCATTAGCAATGGTACTTGAT
ATCAAGAAAGCAGCTCCTAATTAGAGCTATTAAAATTCCCCTAGGCCGGG
CGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGC
GGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACC
CCGTTTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGTGCC
TGTAGTCCCAGCTACAAGGGAGGCTAAGGCAGGAGAATGGCGTGAACCCG
CGAGGCGGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACCCTAGCCTG
GGCGACAGAGCAAGACTCCATCTCAAAAAAAAAACAAAAACAAAAAAAAT
AAAAATAAATTCCCCTAAAGAGCTGGCCCCTCTAGCCTAAGTTGAGCCTT
TTAGCAGGAGTGAAATATTCCCAGCAATGGAATTAAAAGAAATTCAGGGG
CCCAGAGTCAGAAACATTATATTGAGCCCCCAAATTATCTGAGAAAAAAA
AGTCTTTATAATTGTAATAACCAATGGGTATGATTTCCCTTCTCCTGCTC
AGGAGGTAGAGGAGATGGGCCTGAGAAGTTATACCCCGACAGTGAAGATA
TTAATAATGATGATGTTGGTCATGATAAAAATAGTAGGAAAATTAATTGT
AATAACAGTAATAATTGTAATGCCTCTTTATATTTATCAGTCACATAACA
CCTTAAAAATACCTTTGAATCCACTATCTCATTGCATTATCATAAAATCC
TATGAGAAAGGCAAGGCAAGAACCATTACTTTCCTAACAACATCAACAAT
ATTAGTTGCATCATTTCAGTTACATTATGGTAAAAGGGGCAATTGTGGGA
TAACCATCATTTATTTATAGCTCTGTGGCTTAAAGAAATGTGACTCAGGC
AGCAACTAGATCCTTCAGAAATTAGGATATCTCTTTGAGCTGCAAATCCA
GGGCTGAACAAGAGACTCTGGACAGGGCCACAGCAGGAAGACATGCACCA
CCCCTACCACCCCTGTCCCCTGCAACATGCCAAAGTAATTTTGCTTTGTT
TAGAAACATTTATGTGTCTCCGAAACATTATCAAGAAAATTCCGAGATGT
TTCTTGTTACTTTTAAAAAGATTTTTTAATAAAGCCAAAATTAAGTAAAA
TTGTAAGAATGCTACTAGTAATGCATCATAATCATAGAAATCAAAGCTGG
TATGAAAATGGAAGATCTCGATGAAGCTCTGTAGAATGACAAGGTCTTTG
TGTCTTTTTCAGAATTCCTTCTTGATAGCTTCAAATAGCTCCTACTACAG
TTGAGACTGGACAAATCGTAAGACCTGTAAATGCTATTGCTTTTACCATT
ATACAGATAAGGCATAACTAATACTACAGTACAATCCAGGGACAAAAGCA
TAAGTCGCATCAGATTCAGTGGATATATTTCCATTTGAGGGAGACC
 G
G
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+35593_-22+4278
others(4): Show 
c.-22+35593_-22+42787del
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15746373
chr12:15746452 T
T
 G
G
 2 a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0070
a0001c0002t0001g0071
 2 HG02145.hp1
HG02965.hp2
HG02145.hp1
HG02965.hp2
 intron_variant MODIFIER c.-22+42709A>C
c.-22+42709A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15746452
chr12:15746460 C
C
 T
T
 1 a0001c0001t0001g0083
a0001c0001t0001g0083
 1 NA19062.hp2
NA19062.hp2
 intron_variant MODIFIER c.-22+42701G>A
c.-22+42701G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15746460
chr12:15746536 A
A
 G
G
 1 a0002c0004t0001g0062
a0002c0004t0001g0062
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.-22+42625T>C
c.-22+42625T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15746536
chr12:15746601 T
T
 C
C
 25 a0001c0001t0001g0029
a0001c0001t0001g0064
a0001c0001t0001g0082
others(22): Show 
a0001c0001t0001g0029
a0001c0001t0001g0064
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0002t0001g0047
a0001c0002t0001g0065
a0001c0009t0001g0088
a0002c0004t0001g0098
a0003c0006t0001g0091
a0004c0008t0001g0028
 25 HG00597.hp1
HG00621.hp1
HG00738.hp1
others(22): Show 
HG00597.hp1
HG00621.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01256.hp1
HG01261.hp1
HG02132.hp2
HG02300.hp1
HG02523.hp1
HG02523.hp2
HG03017.hp1
HG03017.hp2
HG03579.hp2
HG03831.hp1
HG06807.hp1
NA18944.hp2
NA18978.hp2
NA19062.hp1
NA19063.hp1
NA19087.hp1
NA19087.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-22+42560A>G
c.-22+42560A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15746601
chr12:15746768 A
A
 C
C
 2 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0024
a0001c0001t0001g0025
 2 HG00597.hp2
HG00733.hp2
HG00597.hp2
HG00733.hp2
 intron_variant MODIFIER c.-22+42393T>G
c.-22+42393T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15746768
chr12:15747056 C
C
 T
T
 5 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(2): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
 5 HG01243.hp2
HG01256.hp2
HG02622.hp1
others(2): Show 
HG01243.hp2
HG01256.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+42105G>A
c.-22+42105G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15747056
chr12:15747068 T
T
 A
A
 2 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0024
a0001c0001t0001g0025
 2 HG00597.hp2
HG00733.hp2
HG00597.hp2
HG00733.hp2
 intron_variant MODIFIER c.-22+42093A>T
c.-22+42093A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15747068
chr12:15747288 A
A
 T
T
 1 a0001c0002t0001g0048
a0001c0002t0001g0048
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.-22+41873T>A
c.-22+41873T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15747288
chr12:15747463 A
A
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-22+41698T>A
c.-22+41698T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15747463
chr12:15747806 G
G
 A
A
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.-22+41355C>T
c.-22+41355C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15747806
chr12:15747825 C
C
 A
A
 1 a0001c0001t0001g0102
a0001c0001t0001g0102
 1 NA19063.hp1
NA19063.hp1
 intron_variant MODIFIER c.-22+41336G>T
c.-22+41336G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15747825
chr12:15747830 C
C
 T
T
 15 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0069
others(12): Show 
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0002c0004t0001g0079
 15 HG01884.hp1
HG02055.hp2
HG02109.hp1
others(12): Show 
HG01884.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+41331G>A
c.-22+41331G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15747830
chr12:15747935 G
G
 A
A
 3 a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
 3 HG02451.hp1
HG02630.hp1
HG02818.hp1
HG02451.hp1
HG02630.hp1
HG02818.hp1
 intron_variant MODIFIER c.-22+41226C>T
c.-22+41226C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15747935
chr12:15747950 G
G
 T
T
 12 a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
others(9): Show 
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0002c0004t0001g0079
 12 HG02055.hp2
HG02109.hp1
HG02145.hp1
others(9): Show 
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+41211C>A
c.-22+41211C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15747950
chr12:15747951 C
C
 T
T
 1 a0001c0010t0004g0007
a0001c0010t0004g0007
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.-22+41210G>A
c.-22+41210G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15747951
chr12:15747955 G
G
 C
C
 1 a0001c0001t0002g0009
a0001c0001t0002g0009
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.-22+41206C>G
c.-22+41206C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15747955
chr12:15748026 AAAAACAA
others(4): Show 
AAAAACAAAAAC
 A
A
 1 a0001c0003t0004g0039
a0001c0003t0004g0039
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.-22+41124_-22+4113
others(15): Show 
c.-22+41124_-22+41134delGTTTTTGTTTT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15748026
chr12:15748031 CA
CA
 C
C
 7 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 7 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(4): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.-22+41129delT
c.-22+41129delT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15748031
chr12:15748222 T
T
 A
A
 4 a0001c0001t0003g0004
a0001c0002t0003g0001
a0001c0002t0003g0002
others(1): Show 
a0001c0001t0003g0004
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
 4 HG01109.hp1
HG02055.hp1
NA18906.hp1
others(1): Show 
HG01109.hp1
HG02055.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.-22+40939A>T
c.-22+40939A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15748222
chr12:15748441 T
T
 C
C
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-22+40720A>G
c.-22+40720A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15748441
chr12:15748478 C
C
 T
T
 1 a0001c0002t0003g0001
a0001c0002t0003g0001
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.-22+40683G>A
c.-22+40683G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15748478
chr12:15748845 A
A
 G
G
 4 a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
others(1): Show 
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
 4 HG02451.hp1
HG02630.hp1
HG02818.hp1
others(1): Show 
HG02451.hp1
HG02630.hp1
HG02818.hp1
HG03139.hp1
 intron_variant MODIFIER c.-22+40316T>C
c.-22+40316T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15748845
chr12:15748847 C
C
 T
T
 12 a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
others(9): Show 
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0002c0004t0001g0079
 12 HG02055.hp2
HG02109.hp1
HG02145.hp1
others(9): Show 
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+40314G>A
c.-22+40314G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15748847
chr12:15748937 T
T
 C
C
 3 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
 3 HG01884.hp1
HG02258.hp1
HG03041.hp1
HG01884.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.-22+40224A>G
c.-22+40224A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15748937
chr12:15749048 G
G
 T
T
 5 a0001c0001t0001g0082
a0001c0001t0001g0094
a0001c0001t0001g0096
others(2): Show 
a0001c0001t0001g0082
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0002t0001g0047
a0001c0009t0001g0088
 5 HG03017.hp1
HG03017.hp2
HG03831.hp1
others(2): Show 
HG03017.hp1
HG03017.hp2
HG03831.hp1
NA19062.hp1
NA19087.hp2
 intron_variant MODIFIER c.-22+40113C>A
c.-22+40113C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15749048
chr12:15749078 G
G
 C
C
 3 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
 3 HG01884.hp1
HG02258.hp1
HG03041.hp1
HG01884.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.-22+40083C>G
c.-22+40083C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15749078
chr12:15749402 T
T
 C
C
 4 a0001c0001t0003g0004
a0001c0002t0003g0001
a0001c0002t0003g0002
others(1): Show 
a0001c0001t0003g0004
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
 4 HG01109.hp1
HG02055.hp1
NA18906.hp1
others(1): Show 
HG01109.hp1
HG02055.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.-22+39759A>G
c.-22+39759A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15749402
chr12:15749957 C
C
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-22+39204G>A
c.-22+39204G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15749957
chr12:15750000 T
T
 C
C
 4 a0001c0001t0003g0004
a0001c0002t0003g0001
a0001c0002t0003g0002
others(1): Show 
a0001c0001t0003g0004
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
 4 HG01109.hp1
HG02055.hp1
NA18906.hp1
others(1): Show 
HG01109.hp1
HG02055.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.-22+39161A>G
c.-22+39161A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15750000
chr12:15750069 T
T
 C
C
 8 a0001c0001t0003g0004
a0001c0002t0003g0001
a0001c0002t0003g0002
others(5): Show 
a0001c0001t0003g0004
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
 8 HG01109.hp1
HG02055.hp1
HG02451.hp1
others(5): Show 
HG01109.hp1
HG02055.hp1
HG02451.hp1
HG02630.hp1
HG02818.hp1
HG03139.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.-22+39092A>G
c.-22+39092A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15750069
chr12:15750166 G
G
 A
A
 2 a0001c0002t0001g0080
a0002c0004t0001g0079
a0001c0002t0001g0080
a0002c0004t0001g0079
 2 HG02630.hp2
HG03098.hp2
HG02630.hp2
HG03098.hp2
 intron_variant MODIFIER c.-22+38995C>T
c.-22+38995C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15750166
chr12:15750201 T
T
 G
G
 1 a0001c0003t0004g0031
a0001c0003t0004g0031
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.-22+38960A>C
c.-22+38960A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15750201
chr12:15750285 C
C
 A
A
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+38876G>T
c.-22+38876G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15750285
chr12:15750724 T
T
 C
C
 12 a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
others(9): Show 
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0002c0004t0001g0079
 12 HG02055.hp2
HG02109.hp1
HG02145.hp1
others(9): Show 
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+38437A>G
c.-22+38437A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15750724
chr12:15750930 C
C
 T
T
 3 a0001c0001t0001g0029
a0001c0001t0001g0100
a0004c0008t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0100
a0004c0008t0001g0028
 3 HG00738.hp1
HG01071.hp1
HG02132.hp2
HG00738.hp1
HG01071.hp1
HG02132.hp2
 intron_variant MODIFIER c.-22+38231G>A
c.-22+38231G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15750930
chr12:15750931 G
G
 A
A
 1 a0001c0002t0005g0014
a0001c0002t0005g0014
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.-22+38230C>T
c.-22+38230C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15750931
chr12:15751155 C
C
 T
T
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+38006G>A
c.-22+38006G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15751155
chr12:15751652 A
A
 G
G
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.-22+37509T>C
c.-22+37509T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15751652
chr12:15752008 A
A
 C
C
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.-22+37153T>G
c.-22+37153T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15752008
chr12:15752097 C
C
 G
G
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+37064G>C
c.-22+37064G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15752097
chr12:15752158 T
T
 C
C
 1 a0001c0002t0005g0014
a0001c0002t0005g0014
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.-22+37003A>G
c.-22+37003A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15752158
chr12:15752169 C
C
 T
T
 4 a0001c0001t0003g0004
a0001c0002t0003g0001
a0001c0002t0003g0002
others(1): Show 
a0001c0001t0003g0004
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
 4 HG01109.hp1
HG02055.hp1
NA18906.hp1
others(1): Show 
HG01109.hp1
HG02055.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.-22+36992G>A
c.-22+36992G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15752169
chr12:15752229 C
C
 T
T
 3 a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0003t0006g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0003t0006g0066
 3 HG02559.hp1
HG03516.hp2
NA19030.hp2
HG02559.hp1
HG03516.hp2
NA19030.hp2
 intron_variant MODIFIER c.-22+36932G>A
c.-22+36932G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15752229
chr12:15752311 G
G
 A
A
 1 a0001c0001t0002g0009
a0001c0001t0002g0009
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.-22+36850C>T
c.-22+36850C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15752311
chr12:15752351 G
G
 A
A
 1 a0001c0001t0001g0096
a0001c0001t0001g0096
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.-22+36810C>T
c.-22+36810C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15752351
chr12:15752646 A
A
 G
G
 2 a0001c0002t0001g0053
a0001c0002t0008g0051
a0001c0002t0001g0053
a0001c0002t0008g0051
 2 HG00733.hp1
HG01884.hp2
HG00733.hp1
HG01884.hp2
 intron_variant MODIFIER c.-22+36515T>C
c.-22+36515T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15752646
chr12:15752958 G
G
 C
C
 7 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 7 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(4): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.-22+36203C>G
c.-22+36203C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15752958
chr12:15753569 T
T
 A
A
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+35592A>T
c.-22+35592A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15753569
chr12:15754220 C
C
 T
T
 1 a0001c0002t0001g0032
a0001c0002t0001g0032
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.-22+34941G>A
c.-22+34941G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15754220
chr12:15754233 G
G
 GA
GA
 12 a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
others(9): Show 
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0002c0004t0001g0079
 12 HG02055.hp2
HG02109.hp1
HG02145.hp1
others(9): Show 
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+34927dupT
c.-22+34927dupT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15754233
chr12:15754251 T
T
 A
A
 2 a0001c0001t0001g0059
a0001c0002t0001g0063
a0001c0001t0001g0059
a0001c0002t0001g0063
 2 HG02300.hp2
HG02886.hp2
HG02300.hp2
HG02886.hp2
 intron_variant MODIFIER c.-22+34910A>T
c.-22+34910A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15754251
chr12:15754426 G
G
 T
T
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+34735C>A
c.-22+34735C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15754426
chr12:15754464 T
T
 C
C
 41 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(38): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0010t0004g0007
a0002c0004t0001g0079
 41 HG00597.hp2
HG00733.hp2
HG01109.hp1
others(38): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.-22+34697A>G
c.-22+34697A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15754464
chr12:15754531 G
G
 A
A
 4 a0001c0001t0003g0004
a0001c0002t0003g0001
a0001c0002t0003g0002
others(1): Show 
a0001c0001t0003g0004
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
 4 HG01109.hp1
HG02055.hp1
NA18906.hp1
others(1): Show 
HG01109.hp1
HG02055.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.-22+34630C>T
c.-22+34630C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15754531
chr12:15754687 T
T
 C
C
 1 a0001c0002t0001g0032
a0001c0002t0001g0032
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.-22+34474A>G
c.-22+34474A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15754687
chr12:15754754 C
C
 T
T
 12 a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
others(9): Show 
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0002c0004t0001g0079
 12 HG02055.hp2
HG02109.hp1
HG02145.hp1
others(9): Show 
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+34407G>A
c.-22+34407G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15754754
chr12:15754860 T
T
 C
C
 12 a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
others(9): Show 
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0002c0004t0001g0079
 12 HG02055.hp2
HG02109.hp1
HG02145.hp1
others(9): Show 
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+34301A>G
c.-22+34301A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15754860
chr12:15755279 C
C
 T
T
 1 a0001c0002t0001g0063
a0001c0002t0001g0063
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.-22+33882G>A
c.-22+33882G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15755279
chr12:15755320 T
T
 C
C
 3 a0001c0001t0001g0090
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0090
a0001c0001t0001g0101
a0001c0001t0001g0102
 3 HG00597.hp1
NA18978.hp2
NA19063.hp1
HG00597.hp1
NA18978.hp2
NA19063.hp1
 intron_variant MODIFIER c.-22+33841A>G
c.-22+33841A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15755320
chr12:15755799 T
T
 G
G
 3 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
 3 HG01884.hp1
HG02258.hp1
HG03041.hp1
HG01884.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.-22+33362A>C
c.-22+33362A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15755799
chr12:15755928 T
T
 C
C
 1 a0001c0003t0004g0031
a0001c0003t0004g0031
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.-22+33233A>G
c.-22+33233A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15755928
chr12:15756756 A
A
 G
G
 2 a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0070
a0001c0002t0001g0071
 2 HG02145.hp1
HG02965.hp2
HG02145.hp1
HG02965.hp2
 intron_variant MODIFIER c.-22+32405T>C
c.-22+32405T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15756756
chr12:15756826 T
T
 C
C
 4 a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
others(1): Show 
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
 4 HG02109.hp2
HG02622.hp2
HG03130.hp2
others(1): Show 
HG02109.hp2
HG02622.hp2
HG03130.hp2
HG06807.hp2
 intron_variant MODIFIER c.-22+32335A>G
c.-22+32335A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15756826
chr12:15756835 G
G
 T
T
 17 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0002g0022
others(14): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0002c0004t0001g0079
 17 HG00597.hp2
HG00733.hp2
HG01884.hp1
others(14): Show 
HG00597.hp2
HG00733.hp2
HG01884.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+32326C>A
c.-22+32326C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15756835
chr12:15757136 A
A
 T
T
 29 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(26): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0001c0010t0004g0007
a0002c0004t0001g0079
 29 HG00597.hp2
HG00733.hp2
HG01109.hp2
others(26): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+32025T>A
c.-22+32025T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15757136
chr12:15757164 G
G
 C
C
 2 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0024
a0001c0001t0001g0025
 2 HG00597.hp2
HG00733.hp2
HG00597.hp2
HG00733.hp2
 intron_variant MODIFIER c.-22+31997C>G
c.-22+31997C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15757164
chr12:15757298 T
T
 C
C
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-22+31863A>G
c.-22+31863A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15757298
chr12:15757502 T
T
 C
C
 29 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(26): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0001c0010t0004g0007
a0002c0004t0001g0079
 29 HG00597.hp2
HG00733.hp2
HG01109.hp2
others(26): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+31659A>G
c.-22+31659A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15757502
chr12:15757813 C
C
 A
A
 3 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
 3 HG01884.hp1
HG02258.hp1
HG03041.hp1
HG01884.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.-22+31348G>T
c.-22+31348G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15757813
chr12:15758469 T
T
 C
C
 5 a0001c0001t0001g0011
a0001c0001t0002g0012
a0001c0001t0002g0013
others(2): Show 
a0001c0001t0001g0011
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
 5 HG01109.hp2
HG02886.hp1
HG03098.hp1
others(2): Show 
HG01109.hp2
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
 intron_variant MODIFIER c.-22+30692A>G
c.-22+30692A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15758469
chr12:15759029 A
A
 T
T
 44 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(41): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
 44 HG00597.hp2
HG00733.hp2
HG01109.hp1
others(41): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
NA18906.hp1
NA18978.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19063.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.-22+30132T>A
c.-22+30132T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15759029
chr12:15759118 T
T
 A
A
 12 a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
others(9): Show 
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0002c0004t0001g0079
 12 HG02055.hp2
HG02109.hp1
HG02145.hp1
others(9): Show 
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+30043A>T
c.-22+30043A>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15759118
chr12:15759702 A
A
 G
G
 2 a0001c0001t0001g0041
a0001c0001t0010g0049
a0001c0001t0001g0041
a0001c0001t0010g0049
 2 NA19009.hp2
NA19063.hp2
NA19009.hp2
NA19063.hp2
 intron_variant MODIFIER c.-22+29459T>C
c.-22+29459T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15759702
chr12:15759980 G
G
 C
C
 4 a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
others(1): Show 
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
 4 HG02451.hp1
HG02630.hp1
HG02818.hp1
others(1): Show 
HG02451.hp1
HG02630.hp1
HG02818.hp1
HG03139.hp1
 intron_variant MODIFIER c.-22+29181C>G
c.-22+29181C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15759980
chr12:15760018 A
A
 G
G
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.-22+29143T>C
c.-22+29143T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15760018
chr12:15760168 A
A
 T
T
 101 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(98): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 101 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(98): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-22+28993T>A
c.-22+28993T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15760168
chr12:15760356 G
G
 A
A
 1 a0001c0001t0001g0089
a0001c0001t0001g0089
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.-22+28805C>T
c.-22+28805C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15760356
chr12:15760568 G
G
 A
A
 1 a0001c0005t0005g0033
a0001c0005t0005g0033
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.-22+28593C>T
c.-22+28593C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15760568
chr12:15760576 T
T
 C
C
 29 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(26): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0001c0010t0004g0007
a0002c0004t0001g0079
 29 HG00597.hp2
HG00733.hp2
HG01109.hp2
others(26): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+28585A>G
c.-22+28585A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15760576
chr12:15760661 A
A
 G
G
 3 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
 3 HG01884.hp1
HG02258.hp1
HG03041.hp1
HG01884.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.-22+28500T>C
c.-22+28500T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15760661
chr12:15761130 C
C
 T
T
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+28031G>A
c.-22+28031G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15761130
chr12:15761365 C
C
 A
A
 2 a0001c0002t0001g0080
a0002c0004t0001g0079
a0001c0002t0001g0080
a0002c0004t0001g0079
 2 HG02630.hp2
HG03098.hp2
HG02630.hp2
HG03098.hp2
 intron_variant MODIFIER c.-22+27796G>T
c.-22+27796G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15761365
chr12:15761436 C
C
 T
T
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+27725G>A
c.-22+27725G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15761436
chr12:15761471 A
A
 G
G
 1 a0001c0001t0001g0086
a0001c0001t0001g0086
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.-22+27690T>C
c.-22+27690T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15761471
chr12:15761536 A
A
 G
G
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-22+27625T>C
c.-22+27625T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15761536
chr12:15762013 AAT
AAT
 A
A
 29 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(26): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0001c0010t0004g0007
a0002c0004t0001g0079
 29 HG00597.hp2
HG00733.hp2
HG01109.hp2
others(26): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+27146_-22+2714
others(6): Show 
c.-22+27146_-22+27147delAT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15762013
chr12:15762240 T
T
 C
C
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+26921A>G
c.-22+26921A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15762240
chr12:15762337 C
C
 T
T
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+26824G>A
c.-22+26824G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15762337
chr12:15762350 T
T
 C
C
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-22+26811A>G
c.-22+26811A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15762350
chr12:15762365 G
G
 C
C
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.-22+26796C>G
c.-22+26796C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15762365
chr12:15762427 C
C
 T
T
 1 a0001c0001t0001g0086
a0001c0001t0001g0086
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.-22+26734G>A
c.-22+26734G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15762427
chr12:15762488 T
T
 C
C
 1 a0001c0001t0001g0100
a0001c0001t0001g0100
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.-22+26673A>G
c.-22+26673A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15762488
chr12:15763177 G
G
 C
C
 7 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 7 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(4): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.-22+25984C>G
c.-22+25984C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15763177
chr12:15763419 G
G
 T
T
 4 a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
others(1): Show 
a0001c0002t0005g0014
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
 4 HG02451.hp1
HG02630.hp1
HG02818.hp1
others(1): Show 
HG02451.hp1
HG02630.hp1
HG02818.hp1
HG03139.hp1
 intron_variant MODIFIER c.-22+25742C>A
c.-22+25742C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15763419
chr12:15763519 C
C
 A
A
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-22+25642G>T
c.-22+25642G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15763519
chr12:15763559 C
C
 T
T
 12 a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
others(9): Show 
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0002c0004t0001g0079
 12 HG02055.hp2
HG02109.hp1
HG02145.hp1
others(9): Show 
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+25602G>A
c.-22+25602G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15763559
chr12:15763574 G
G
 T
T
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.-22+25587C>A
c.-22+25587C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15763574
chr12:15763625 T
T
 C
C
 1 a0001c0001t0001g0090
a0001c0001t0001g0090
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.-22+25536A>G
c.-22+25536A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15763625
chr12:15763757 A
A
 C
C
 3 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
 3 HG01884.hp1
HG02258.hp1
HG03041.hp1
HG01884.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.-22+25404T>G
c.-22+25404T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15763757
chr12:15763821 A
A
 G
G
 7 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 7 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(4): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.-22+25340T>C
c.-22+25340T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15763821
chr12:15763956 G
G
 A
A
 1 a0001c0002t0001g0065
a0001c0002t0001g0065
 1 NA19087.hp1
NA19087.hp1
 intron_variant MODIFIER c.-22+25205C>T
c.-22+25205C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15763956
chr12:15764087 T
T
 C
C
 13 a0001c0001t0001g0024
a0001c0002t0001g0069
a0001c0002t0001g0070
others(10): Show 
a0001c0001t0001g0024
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0002c0004t0001g0079
 13 HG00733.hp2
HG02055.hp2
HG02109.hp1
others(10): Show 
HG00733.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+25074A>G
c.-22+25074A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15764087
chr12:15764248 C
C
 T
T
 1 a0001c0001t0001g0099
a0001c0001t0001g0099
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.-22+24913G>A
c.-22+24913G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15764248
chr12:15764376 A
A
 G
G
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+24785T>C
c.-22+24785T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15764376
chr12:15764754 A
A
 G
G
 41 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(38): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0010t0004g0007
a0002c0004t0001g0079
 41 HG00597.hp2
HG00733.hp2
HG01109.hp1
others(38): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.-22+24407T>C
c.-22+24407T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15764754
chr12:15765099 C
C
 G
G
 29 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(26): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0001c0010t0004g0007
a0002c0004t0001g0079
 29 HG00597.hp2
HG00733.hp2
HG01109.hp2
others(26): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+24062G>C
c.-22+24062G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15765099
chr12:15765594 C
C
 T
T
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+23567G>A
c.-22+23567G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15765594
chr12:15765803 G
G
 T
T
 2 a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0034
a0001c0002t0001g0035
 2 HG02451.hp2
NA19240.hp1
HG02451.hp2
NA19240.hp1
 intron_variant MODIFIER c.-22+23358C>A
c.-22+23358C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15765803
chr12:15765817 G
G
 T
T
 2 a0001c0001t0001g0005
a0001c0001t0001g0020
a0001c0001t0001g0005
a0001c0001t0001g0020
 2 HG01261.hp2
HG03831.hp2
HG01261.hp2
HG03831.hp2
 intron_variant MODIFIER c.-22+23344C>A
c.-22+23344C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15765817
chr12:15765852 C
C
 T
T
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.-22+23309G>A
c.-22+23309G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15765852
chr12:15765874 C
C
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-22+23287G>A
c.-22+23287G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15765874
chr12:15765927 C
C
 T
T
 1 a0001c0002t0001g0032
a0001c0002t0001g0032
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.-22+23234G>A
c.-22+23234G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15765927
chr12:15766031 G
G
 T
T
 1 a0003c0006t0001g0091
a0003c0006t0001g0091
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.-22+23130C>A
c.-22+23130C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15766031
chr12:15766036 A
A
 C
C
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.-22+23125T>G
c.-22+23125T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15766036
chr12:15766065 C
C
 T
T
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.-22+23096G>A
c.-22+23096G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15766065
chr12:15766136 A
A
 G
G
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+23025T>C
c.-22+23025T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15766136
chr12:15766229 G
G
 A
A
 1 a0001c0001t0001g0085
a0001c0001t0001g0085
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.-22+22932C>T
c.-22+22932C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15766229
chr12:15766249 G
G
 T
T
 7 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 7 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(4): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.-22+22912C>A
c.-22+22912C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15766249
chr12:15766324 C
C
 CA
CA
 3 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
 3 HG01884.hp1
HG02258.hp1
HG03041.hp1
HG01884.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.-22+22836dupT
c.-22+22836dupT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15766324
chr12:15766424 C
C
 T
T
 4 a0001c0001t0003g0004
a0001c0002t0003g0001
a0001c0002t0003g0002
others(1): Show 
a0001c0001t0003g0004
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
 4 HG01109.hp1
HG02055.hp1
NA18906.hp1
others(1): Show 
HG01109.hp1
HG02055.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.-22+22737G>A
c.-22+22737G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15766424
chr12:15766429 G
G
 T
T
 4 a0001c0001t0003g0004
a0001c0002t0003g0001
a0001c0002t0003g0002
others(1): Show 
a0001c0001t0003g0004
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
 4 HG01109.hp1
HG02055.hp1
NA18906.hp1
others(1): Show 
HG01109.hp1
HG02055.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.-22+22732C>A
c.-22+22732C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15766429
chr12:15766496 C
C
 CA
CA
 29 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(26): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0101
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0010t0004g0007
a0002c0004t0001g0079
 29 HG00597.hp2
HG01109.hp2
HG01243.hp2
others(26): Show 
HG00597.hp2
HG01109.hp2
HG01243.hp2
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02886.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp2
NA18978.hp2
NA19030.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+22664dupT
c.-22+22664dupT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15766496
chr12:15766496 CA
CA
 C
C
 5 a0001c0001t0001g0024
a0001c0001t0003g0004
a0001c0002t0003g0001
others(2): Show 
a0001c0001t0001g0024
a0001c0001t0003g0004
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
 5 HG00733.hp2
HG01109.hp1
HG02055.hp1
others(2): Show 
HG00733.hp2
HG01109.hp1
HG02055.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.-22+22664delT
c.-22+22664delT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15766496
chr12:15766679 C
C
 A
A
 1 a0001c0001t0001g0042
a0001c0001t0001g0042
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.-22+22482G>T
c.-22+22482G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15766679
chr12:15766832 C
C
 T
T
 1 a0001c0002t0001g0010
a0001c0002t0001g0010
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.-22+22329G>A
c.-22+22329G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15766832
chr12:15767037 T
T
 C
C
 7 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 7 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(4): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.-22+22124A>G
c.-22+22124A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15767037
chr12:15767279 C
C
 T
T
 1 a0001c0002t0001g0050
a0001c0002t0001g0050
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.-22+21882G>A
c.-22+21882G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15767279
chr12:15768089 C
C
 T
T
 12 a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
others(9): Show 
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0002c0004t0001g0079
 12 HG02055.hp2
HG02109.hp1
HG02145.hp1
others(9): Show 
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+21072G>A
c.-22+21072G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15768089
chr12:15768098 C
C
 T
T
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+21063G>A
c.-22+21063G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15768098
chr12:15768134 G
G
 A
A
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+21027C>T
c.-22+21027C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15768134
chr12:15768168 G
G
 A
A
 3 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
 3 HG01884.hp1
HG02258.hp1
HG03041.hp1
HG01884.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.-22+20993C>T
c.-22+20993C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15768168
chr12:15768294 C
C
 T
T
 12 a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
others(9): Show 
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0002c0004t0001g0079
 12 HG02055.hp2
HG02109.hp1
HG02145.hp1
others(9): Show 
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+20867G>A
c.-22+20867G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15768294
chr12:15768424 C
C
 T
T
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.-22+20737G>A
c.-22+20737G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15768424
chr12:15768429 C
C
 CA
CA
 29 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0020
others(26): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0090
a0001c0001t0001g0099
a0001c0001t0001g0101
a0001c0001t0002g0009
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0047
a0001c0002t0001g0063
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0008g0023
a0001c0003t0006g0066
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0098
 29 HG00597.hp1
HG01261.hp2
HG01884.hp1
others(26): Show 
HG00597.hp1
HG01261.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02523.hp1
HG02630.hp2
HG02886.hp2
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp2
HG06807.hp1
NA18944.hp2
NA18978.hp2
NA19030.hp2
NA19062.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+20731dupT
c.-22+20731dupT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15768429
chr12:15768429 C
C
 CAA
CAA
 11 a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
others(8): Show 
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0069
a0001c0002t0001g0078
a0001c0002t0001g0080
a0003c0006t0001g0091
 11 HG00597.hp2
HG00621.hp1
HG01109.hp2
others(8): Show 
HG00597.hp2
HG00621.hp1
HG01109.hp2
HG02622.hp1
HG02717.hp1
HG02717.hp2
HG02886.hp1
HG03098.hp1
HG03098.hp2
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.-22+20730_-22+2073
others(6): Show 
c.-22+20730_-22+20731dupTT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15768429
chr12:15768488 C
C
 T
T
 29 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(26): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0001c0010t0004g0007
a0002c0004t0001g0079
 29 HG00597.hp2
HG00733.hp2
HG01109.hp2
others(26): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+20673G>A
c.-22+20673G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15768488
chr12:15768552 C
C
 T
T
 1 a0001c0009t0001g0088
a0001c0009t0001g0088
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.-22+20609G>A
c.-22+20609G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15768552
chr12:15768625 G
G
 A
A
 1 a0001c0010t0004g0007
a0001c0010t0004g0007
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.-22+20536C>T
c.-22+20536C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15768625
chr12:15768683 C
C
 T
T
 10 a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
others(7): Show 
a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0002t0001g0047
a0001c0002t0001g0065
a0002c0004t0001g0081
a0003c0006t0001g0046
 10 HG00621.hp2
HG01256.hp2
HG02132.hp1
others(7): Show 
HG00621.hp2
HG01256.hp2
HG02132.hp1
HG03831.hp2
NA18944.hp1
NA18978.hp1
NA19009.hp1
NA19062.hp1
NA19087.hp1
NA20300.hp2
 intron_variant MODIFIER c.-22+20478G>A
c.-22+20478G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15768683
chr12:15768790 A
A
 G
G
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+20371T>C
c.-22+20371T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15768790
chr12:15769077 A
A
 G
G
 1 a0001c0002t0001g0063
a0001c0002t0001g0063
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.-22+20084T>C
c.-22+20084T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15769077
chr12:15769171 G
G
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-22+19990C>A
c.-22+19990C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15769171
chr12:15769229 C
C
 T
T
 1 a0001c0001t0002g0009
a0001c0001t0002g0009
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.-22+19932G>A
c.-22+19932G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15769229
chr12:15769653 C
C
 T
T
 2 a0001c0001t0001g0058
a0001c0001t0009g0057
a0001c0001t0001g0058
a0001c0001t0009g0057
 2 HG02258.hp2
NA18906.hp2
HG02258.hp2
NA18906.hp2
 intron_variant MODIFIER c.-22+19508G>A
c.-22+19508G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15769653
chr12:15769777 T
T
 C
C
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.-22+19384A>G
c.-22+19384A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15769777
chr12:15769920 T
T
 C
C
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-22+19241A>G
c.-22+19241A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15769920
chr12:15770288 C
C
 CA
CA
 67 a0001c0001t0001g0005
a0001c0001t0001g0020
a0001c0001t0001g0021
others(64): Show 
a0001c0001t0001g0005
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0066
a0001c0009t0001g0088
a0002c0004t0001g0062
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 67 HG00597.hp1
HG00621.hp1
HG00621.hp2
others(64): Show 
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-22+18872dupT
c.-22+18872dupT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15770288
chr12:15770288 C
C
 CAA
CAA
 31 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(28): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0010t0004g0007
a0002c0004t0001g0079
 31 HG00733.hp2
HG01109.hp2
HG01243.hp2
others(28): Show 
HG00733.hp2
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02451.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+18871_-22+1887
others(6): Show 
c.-22+18871_-22+18872dupTT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15770288
chr12:15770504 C
C
 T
T
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+18657G>A
c.-22+18657G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15770504
chr12:15770515 G
G
 C
C
 12 a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
others(9): Show 
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0002c0004t0001g0079
 12 HG02055.hp2
HG02109.hp1
HG02145.hp1
others(9): Show 
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+18646C>G
c.-22+18646C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15770515
chr12:15770687 C
C
 T
T
 29 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(26): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0001c0010t0004g0007
a0002c0004t0001g0079
 29 HG00597.hp2
HG00733.hp2
HG01109.hp2
others(26): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+18474G>A
c.-22+18474G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15770687
chr12:15770919 G
G
 A
A
 1 a0001c0001t0001g0085
a0001c0001t0001g0085
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.-22+18242C>T
c.-22+18242C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15770919
chr12:15771204 T
T
 C
C
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+17957A>G
c.-22+17957A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15771204
chr12:15771266 G
G
 C
C
 1 a0001c0002t0008g0023
a0001c0002t0008g0023
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.-22+17895C>G
c.-22+17895C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15771266
chr12:15771426 T
T
 C
C
 1 a0001c0002t0001g0032
a0001c0002t0001g0032
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.-22+17735A>G
c.-22+17735A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15771426
chr12:15771556 G
G
 A
A
 1 a0001c0001t0001g0083
a0001c0001t0001g0083
 1 NA19062.hp2
NA19062.hp2
 intron_variant MODIFIER c.-22+17605C>T
c.-22+17605C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15771556
chr12:15771559 G
G
 A
A
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+17602C>T
c.-22+17602C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15771559
chr12:15771764 C
C
 G
G
 3 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
 3 HG01884.hp1
HG02258.hp1
HG03041.hp1
HG01884.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.-22+17397G>C
c.-22+17397G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15771764
chr12:15771796 C
C
 A
A
 1 a0002c0004t0001g0081
a0002c0004t0001g0081
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.-22+17365G>T
c.-22+17365G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15771796
chr12:15771848 G
G
 A
A
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-22+17313C>T
c.-22+17313C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15771848
chr12:15771866 T
T
 C
C
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+17295A>G
c.-22+17295A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15771866
chr12:15771973 A
A
 T
T
 4 a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0002t0001g0032
others(1): Show 
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0002t0001g0032
a0001c0003t0006g0066
 4 HG02559.hp1
HG03486.hp1
HG03516.hp2
others(1): Show 
HG02559.hp1
HG03486.hp1
HG03516.hp2
NA19030.hp2
 intron_variant MODIFIER c.-22+17188T>A
c.-22+17188T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15771973
chr12:15771985 A
A
 G
G
 42 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(39): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0059
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0010t0004g0007
a0002c0004t0001g0079
 42 HG00597.hp2
HG00733.hp2
HG01109.hp1
others(39): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02300.hp2
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.-22+17176T>C
c.-22+17176T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15771985
chr12:15772090 C
C
 T
T
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.-22+17071G>A
c.-22+17071G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15772090
chr12:15772399 T
T
 G
G
 7 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 7 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(4): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.-22+16762A>C
c.-22+16762A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15772399
chr12:15772404 G
G
 A
A
 1 a0001c0002t0001g0032
a0001c0002t0001g0032
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.-22+16757C>T
c.-22+16757C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15772404
chr12:15772580 C
C
 T
T
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+16581G>A
c.-22+16581G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15772580
chr12:15772596 C
C
 A
A
 7 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 7 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(4): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.-22+16565G>T
c.-22+16565G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15772596
chr12:15772627 A
A
 G
G
 3 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
 3 HG01884.hp1
HG02258.hp1
HG03041.hp1
HG01884.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.-22+16534T>C
c.-22+16534T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15772627
chr12:15772909 A
A
 C
C
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+16252T>G
c.-22+16252T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15772909
chr12:15773099 C
C
 T
T
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.-22+16062G>A
c.-22+16062G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15773099
chr12:15773136 A
A
 G
G
 1 a0001c0002t0001g0032
a0001c0002t0001g0032
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.-22+16025T>C
c.-22+16025T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15773136
chr12:15773148 T
T
 C
C
 17 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0002g0022
others(14): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0002c0004t0001g0079
 17 HG00597.hp2
HG00733.hp2
HG01884.hp1
others(14): Show 
HG00597.hp2
HG00733.hp2
HG01884.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+16013A>G
c.-22+16013A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15773148
chr12:15773219 A
A
 G
G
 1 a0001c0002t0001g0032
a0001c0002t0001g0032
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.-22+15942T>C
c.-22+15942T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15773219
chr12:15773757 A
A
 G
G
 1 a0001c0002t0001g0032
a0001c0002t0001g0032
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.-22+15404T>C
c.-22+15404T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15773757
chr12:15774147 A
A
 C
C
 5 a0001c0001t0001g0011
a0001c0001t0002g0012
a0001c0001t0002g0013
others(2): Show 
a0001c0001t0001g0011
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
 5 HG01109.hp2
HG02886.hp1
HG03098.hp1
others(2): Show 
HG01109.hp2
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
 intron_variant MODIFIER c.-22+15014T>G
c.-22+15014T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15774147
chr12:15774150 TA
TA
 T
T
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+15010delT
c.-22+15010delT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15774150
chr12:15774561 C
C
 CAT
CAT
 4 a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0010g0049
others(1): Show 
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0010g0049
a0004c0008t0001g0028
 4 HG00738.hp1
HG01071.hp1
NA19009.hp2
others(1): Show 
HG00738.hp1
HG01071.hp1
NA19009.hp2
NA19063.hp2
 intron_variant MODIFIER c.-22+14598_-22+1459
others(6): Show 
c.-22+14598_-22+14599dupAT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15774561
chr12:15774561 CAT
CAT
 C
C
 29 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(26): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0001c0010t0004g0007
a0002c0004t0001g0079
 29 HG00597.hp2
HG00733.hp2
HG01109.hp2
others(26): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+14598_-22+1459
others(6): Show 
c.-22+14598_-22+14599delAT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15774561
chr12:15774659 T
T
 C
C
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+14502A>G
c.-22+14502A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15774659
chr12:15774712 A
A
 T
T
 3 a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0003t0006g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0003t0006g0066
 3 HG02559.hp1
HG03516.hp2
NA19030.hp2
HG02559.hp1
HG03516.hp2
NA19030.hp2
 intron_variant MODIFIER c.-22+14449T>A
c.-22+14449T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15774712
chr12:15774984 C
C
 T
T
 1 a0001c0002t0001g0063
a0001c0002t0001g0063
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.-22+14177G>A
c.-22+14177G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15774984
chr12:15775613 C
C
 CA
CA
 3 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
 3 HG01884.hp1
HG02258.hp1
HG03041.hp1
HG01884.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.-22+13547dupT
c.-22+13547dupT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15775613
chr12:15775693 T
T
 G
G
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+13468A>C
c.-22+13468A>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15775693
chr12:15775697 A
A
 C
C
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+13464T>G
c.-22+13464T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15775697
chr12:15775778 A
A
 T
T
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.-22+13383T>A
c.-22+13383T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15775778
chr12:15776183 T
T
 C
C
 13 a0001c0002t0001g0006
a0001c0002t0001g0069
a0001c0002t0001g0070
others(10): Show 
a0001c0002t0001g0006
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0002c0004t0001g0079
 13 HG02055.hp2
HG02109.hp1
HG02145.hp1
others(10): Show 
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02630.hp2
HG02717.hp1
HG02922.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+12978A>G
c.-22+12978A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15776183
chr12:15776551 G
G
 A
A
 3 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
 3 HG01884.hp1
HG02258.hp1
HG03041.hp1
HG01884.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.-22+12610C>T
c.-22+12610C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15776551
chr12:15776719 A
A
 G
G
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+12442T>C
c.-22+12442T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15776719
chr12:15776859 T
T
 C
C
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+12302A>G
c.-22+12302A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15776859
chr12:15777025 A
A
 G
G
 12 a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
others(9): Show 
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0002c0004t0001g0079
 12 HG02055.hp2
HG02109.hp1
HG02145.hp1
others(9): Show 
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+12136T>C
c.-22+12136T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15777025
chr12:15777053 G
G
 T
T
 1 a0001c0001t0001g0042
a0001c0001t0001g0042
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.-22+12108C>A
c.-22+12108C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15777053
chr12:15777113 A
A
 T
T
 4 a0001c0001t0003g0004
a0001c0002t0003g0001
a0001c0002t0003g0002
others(1): Show 
a0001c0001t0003g0004
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
 4 HG01109.hp1
HG02055.hp1
NA18906.hp1
others(1): Show 
HG01109.hp1
HG02055.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.-22+12048T>A
c.-22+12048T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15777113
chr12:15777155 A
A
 G
G
 1 a0001c0001t0001g0089
a0001c0001t0001g0089
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.-22+12006T>C
c.-22+12006T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15777155
chr12:15777176 T
T
 C
C
 2 a0001c0001t0001g0052
a0001c0001t0001g0059
a0001c0001t0001g0052
a0001c0001t0001g0059
 2 HG02300.hp2
NA20300.hp2
HG02300.hp2
NA20300.hp2
 intron_variant MODIFIER c.-22+11985A>G
c.-22+11985A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15777176
chr12:15777278 A
A
 C
C
 8 a0001c0001t0001g0085
a0001c0001t0001g0089
a0001c0001t0001g0090
others(5): Show 
a0001c0001t0001g0085
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0097
a0001c0001t0001g0101
a0001c0001t0001g0102
a0002c0004t0001g0098
a0003c0006t0001g0091
 8 HG00597.hp1
HG00621.hp1
HG00738.hp2
others(5): Show 
HG00597.hp1
HG00621.hp1
HG00738.hp2
HG01261.hp1
HG02523.hp1
HG06807.hp1
NA18978.hp2
NA19063.hp1
 intron_variant MODIFIER c.-22+11883T>G
c.-22+11883T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15777278
chr12:15777432 G
G
 A
A
 6 a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0094
others(3): Show 
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0009t0001g0088
 6 HG01256.hp1
HG03017.hp1
HG03017.hp2
others(3): Show 
HG01256.hp1
HG03017.hp1
HG03017.hp2
HG03831.hp1
NA19062.hp2
NA19087.hp2
 intron_variant MODIFIER c.-22+11729C>T
c.-22+11729C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15777432
chr12:15777806 C
C
 T
T
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.-22+11355G>A
c.-22+11355G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15777806
chr12:15778207 T
T
 C
C
 3 a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0003t0006g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0003t0006g0066
 3 HG02559.hp1
HG03516.hp2
NA19030.hp2
HG02559.hp1
HG03516.hp2
NA19030.hp2
 intron_variant MODIFIER c.-22+10954A>G
c.-22+10954A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15778207
chr12:15778209 C
C
 G
G
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+10952G>C
c.-22+10952G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15778209
chr12:15778300 G
G
 A
A
 1 a0001c0002t0001g0053
a0001c0002t0001g0053
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.-22+10861C>T
c.-22+10861C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15778300
chr12:15778731 G
G
 A
A
 1 a0001c0002t0001g0040
a0001c0002t0001g0040
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.-22+10430C>T
c.-22+10430C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15778731
chr12:15778823 T
T
 C
C
 4 a0001c0001t0003g0004
a0001c0002t0003g0001
a0001c0002t0003g0002
others(1): Show 
a0001c0001t0003g0004
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
 4 HG01109.hp1
HG02055.hp1
NA18906.hp1
others(1): Show 
HG01109.hp1
HG02055.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.-22+10338A>G
c.-22+10338A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15778823
chr12:15778928 C
C
 T
T
 3 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
 3 HG01884.hp1
HG02258.hp1
HG03041.hp1
HG01884.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.-22+10233G>A
c.-22+10233G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15778928
chr12:15778969 TTTTC
TTTTC
 T
T
 101 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
others(98): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0001t0003g0004
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0009g0057
a0001c0001t0010g0049
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0061
a0001c0002t0001g0063
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0002t0008g0023
a0001c0002t0008g0051
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0003t0004g0039
a0001c0003t0006g0044
a0001c0003t0006g0066
a0001c0005t0005g0033
a0001c0005t0005g0043
a0001c0007t0012g0015
a0001c0009t0001g0088
a0001c0010t0004g0007
a0002c0004t0001g0062
a0002c0004t0001g0079
a0002c0004t0001g0081
a0002c0004t0001g0098
a0003c0006t0001g0046
a0003c0006t0001g0091
a0004c0008t0001g0028
 101 HG00597.hp1
HG00597.hp2
HG00621.hp1
others(98): Show 
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.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
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18978.hp1
NA18978.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-22+10188_-22+1019
others(8): Show 
c.-22+10188_-22+10191delGAAA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15778969
chr12:15779171 C
C
 T
T
 29 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(26): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0001c0010t0004g0007
a0002c0004t0001g0079
 29 HG00597.hp2
HG00733.hp2
HG01109.hp2
others(26): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+9990G>A
c.-22+9990G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15779171
chr12:15779220 C
C
 T
T
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+9941G>A
c.-22+9941G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15779220
chr12:15779492 T
T
 C
C
 7 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 7 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(4): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.-22+9669A>G
c.-22+9669A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15779492
chr12:15779504 C
C
 T
T
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.-22+9657G>A
c.-22+9657G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15779504
chr12:15779581 T
T
 C
C
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+9580A>G
c.-22+9580A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15779581
chr12:15779829 A
A
 G
G
 7 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 7 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(4): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.-22+9332T>C
c.-22+9332T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15779829
chr12:15779885 T
T
 C
C
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+9276A>G
c.-22+9276A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15779885
chr12:15780239 GTTCT
GTTCT
 G
G
 7 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 7 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(4): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.-22+8918_-22+8921d
others(6): Show 
c.-22+8918_-22+8921delAGAA
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15780239
chr12:15780256 C
C
 T
T
 29 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(26): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0001c0010t0004g0007
a0002c0004t0001g0079
 29 HG00597.hp2
HG00733.hp2
HG01109.hp2
others(26): Show 
HG00597.hp2
HG00733.hp2
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+8905G>A
c.-22+8905G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15780256
chr12:15780257 G
G
 A
A
 34 a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0029
others(31): Show 
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0001t0010g0049
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0002t0001g0050
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0009t0001g0088
a0002c0004t0001g0098
a0003c0006t0001g0091
a0004c0008t0001g0028
 34 HG00597.hp1
HG00621.hp1
HG00738.hp1
others(31): Show 
HG00597.hp1
HG00621.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG02132.hp2
HG02300.hp1
HG02523.hp1
HG02523.hp2
HG02818.hp2
HG02886.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03579.hp2
HG03831.hp1
HG06807.hp1
NA18944.hp2
NA18978.hp2
NA19009.hp2
NA19043.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19087.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-22+8904C>T
c.-22+8904C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15780257
chr12:15780350 GGAGA
GGAGA
 G
G
 3 a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0008g0023
 3 HG01884.hp1
HG02258.hp1
HG03041.hp1
HG01884.hp1
HG02258.hp1
HG03041.hp1
 intron_variant MODIFIER c.-22+8807_-22+8810d
others(6): Show 
c.-22+8807_-22+8810delTCTC
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15780350
chr12:15780481 A
A
 AAC
AAC
 11 a0001c0001t0001g0020
a0001c0001t0001g0029
a0001c0001t0001g0052
others(8): Show 
a0001c0001t0001g0020
a0001c0001t0001g0029
a0001c0001t0001g0052
a0001c0001t0002g0009
a0001c0001t0002g0026
a0001c0002t0001g0053
a0001c0002t0001g0054
a0001c0002t0001g0055
a0001c0002t0001g0065
a0001c0002t0008g0023
a0001c0002t0008g0051
 11 HG00733.hp1
HG01071.hp1
HG01261.hp2
others(8): Show 
HG00733.hp1
HG01071.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp1
HG02258.hp1
HG02818.hp2
HG03041.hp1
NA19043.hp2
NA19087.hp1
NA20300.hp2
 intron_variant MODIFIER c.-22+8678_-22+8679d
others(4): Show 
c.-22+8678_-22+8679dupGT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15780481
chr12:15780481 A
A
 AACAC
AACAC
 19 a0001c0001t0001g0021
a0001c0001t0001g0027
a0001c0001t0001g0042
others(16): Show 
a0001c0001t0001g0021
a0001c0001t0001g0027
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0102
a0001c0001t0010g0049
a0001c0002t0001g0008
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0050
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0005g0014
a0001c0003t0006g0044
a0001c0005t0005g0043
a0002c0004t0001g0098
a0003c0006t0001g0046
 19 HG00621.hp2
HG01109.hp2
HG01256.hp2
others(16): Show 
HG00621.hp2
HG01109.hp2
HG01256.hp2
HG01261.hp1
HG01891.hp2
HG02055.hp1
HG02523.hp1
HG02559.hp2
HG02630.hp1
HG02976.hp1
HG03139.hp1
HG06807.hp2
NA18944.hp2
NA18978.hp1
NA19009.hp1
NA19009.hp2
NA19062.hp1
NA19063.hp1
NA19240.hp2
 intron_variant MODIFIER c.-22+8676_-22+8679d
others(6): Show 
c.-22+8676_-22+8679dupGTGT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15780481
chr12:15780481 A
A
 AACACAC
AACACAC
 24 a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
others(21): Show 
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0101
a0001c0001t0002g0022
a0001c0001t0007g0093
a0001c0002t0001g0006
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0037
a0001c0002t0001g0040
a0001c0002t0003g0001
a0001c0003t0004g0039
a0001c0005t0005g0033
a0001c0007t0012g0015
a0003c0006t0001g0091
a0004c0008t0001g0028
 24 HG00597.hp1
HG00621.hp1
HG00738.hp1
others(21): Show 
HG00597.hp1
HG00621.hp1
HG00738.hp1
HG00738.hp2
HG01109.hp1
HG01256.hp1
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02818.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03486.hp1
HG03486.hp2
HG03831.hp1
NA18978.hp2
NA19063.hp2
NA19087.hp2
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-22+8674_-22+8679d
others(8): Show 
c.-22+8674_-22+8679dupGTGTGT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15780481
chr12:15780481 A
A
 AACACACA
others(1): Show 
AACACACAC
 7 a0001c0001t0001g0005
a0001c0001t0001g0085
a0001c0001t0001g0086
others(4): Show 
a0001c0001t0001g0005
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0003t0004g0030
a0001c0003t0004g0031
a0001c0009t0001g0088
 7 HG02300.hp1
HG02622.hp2
HG03017.hp1
others(4): Show 
HG02300.hp1
HG02622.hp2
HG03017.hp1
HG03130.hp2
HG03579.hp2
HG03831.hp2
HG06807.hp1
 intron_variant MODIFIER c.-22+8672_-22+8679d
others(10): Show 
c.-22+8672_-22+8679dupGTGTGTGT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15780481
chr12:15780481 A
A
 AACACACA
others(3): Show 
AACACACACAC
 1 a0001c0001t0007g0084
a0001c0001t0007g0084
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.-22+8670_-22+8679d
others(12): Show 
c.-22+8670_-22+8679dupGTGTGTGTGT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15780481
chr12:15780481 A
A
 AACACACA
others(5): Show 
AACACACACACAC
 2 a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0082
a0001c0001t0001g0083
 2 HG03017.hp2
NA19062.hp2
HG03017.hp2
NA19062.hp2
 intron_variant MODIFIER c.-22+8668_-22+8679d
others(14): Show 
c.-22+8668_-22+8679dupGTGTGTGTGTGT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15780481
chr12:15780481 A
A
 ACACACAC
others(4): Show 
ACACACACACAC
 1 a0002c0004t0001g0081
a0002c0004t0001g0081
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.-22+8679_-22+8680i
others(13): Show 
c.-22+8679_-22+8680insGTGTGTGTGTG
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15780481
chr12:15780481 AAC
AAC
 A
A
 5 a0001c0001t0001g0011
a0001c0001t0003g0004
a0001c0002t0001g0010
others(2): Show 
a0001c0001t0001g0011
a0001c0001t0003g0004
a0001c0002t0001g0010
a0001c0002t0001g0061
a0002c0004t0001g0062
 5 HG02922.hp2
HG03041.hp2
HG03130.hp1
others(2): Show 
HG02922.hp2
HG03041.hp2
HG03130.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.-22+8678_-22+8679d
others(4): Show 
c.-22+8678_-22+8679delGT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15780481
chr12:15780481 AACAC
AACAC
 A
A
 10 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(7): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0100
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0063
a0001c0003t0006g0066
a0001c0010t0004g0007
 10 HG01243.hp2
HG02132.hp2
HG02622.hp1
others(7): Show 
HG01243.hp2
HG02132.hp2
HG02622.hp1
HG02717.hp2
HG02886.hp1
HG02886.hp2
HG03098.hp1
HG03471.hp2
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+8676_-22+8679d
others(6): Show 
c.-22+8676_-22+8679delGTGT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15780481
chr12:15780481 AACACAC
AACACAC
 A
A
 13 a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
others(10): Show 
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
 13 HG01071.hp2
HG02055.hp2
HG02109.hp1
others(10): Show 
HG01071.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02559.hp1
HG02717.hp1
HG02965.hp2
HG03139.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+8674_-22+8679d
others(8): Show 
c.-22+8674_-22+8679delGTGTGT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15780481
chr12:15780481 AACACACA
others(1): Show 
AACACACAC
 A
A
 2 a0001c0002t0001g0080
a0002c0004t0001g0079
a0001c0002t0001g0080
a0002c0004t0001g0079
 2 HG02630.hp2
HG03098.hp2
HG02630.hp2
HG03098.hp2
 intron_variant MODIFIER c.-22+8672_-22+8679d
others(10): Show 
c.-22+8672_-22+8679delGTGTGTGT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15780481
chr12:15780481 AACACACA
others(3): Show 
AACACACACAC
 A
A
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-22+8670_-22+8679d
others(12): Show 
c.-22+8670_-22+8679delGTGTGTGTGT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15780481
chr12:15780481 AACACACA
others(7): Show 
AACACACACACACAC
 A
A
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.-22+8666_-22+8679d
others(16): Show 
c.-22+8666_-22+8679delGTGTGTGTGTGTGT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15780481
chr12:15780786 G
G
 A
A
 1 a0001c0007t0012g0015
a0001c0007t0012g0015
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.-22+8375C>T
c.-22+8375C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15780786
chr12:15780980 G
G
 A
A
 1 a0001c0002t0001g0065
a0001c0002t0001g0065
 1 NA19087.hp1
NA19087.hp1
 intron_variant MODIFIER c.-22+8181C>T
c.-22+8181C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15780980
chr12:15781329 C
C
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-22+7832G>A
c.-22+7832G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15781329
chr12:15781426 G
G
 A
A
 12 a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
others(9): Show 
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0002c0004t0001g0079
 12 HG02055.hp2
HG02109.hp1
HG02145.hp1
others(9): Show 
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+7735C>T
c.-22+7735C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15781426
chr12:15782013 C
C
 T
T
 2 a0001c0001t0001g0029
a0004c0008t0001g0028
a0001c0001t0001g0029
a0004c0008t0001g0028
 2 HG00738.hp1
HG01071.hp1
HG00738.hp1
HG01071.hp1
 intron_variant MODIFIER c.-22+7148G>A
c.-22+7148G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15782013
chr12:15782639 A
A
 C
C
 16 a0001c0001t0001g0024
a0001c0001t0002g0022
a0001c0001t0002g0026
others(13): Show 
a0001c0001t0001g0024
a0001c0001t0002g0022
a0001c0001t0002g0026
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0002c0004t0001g0079
 16 HG00733.hp2
HG01884.hp1
HG02055.hp2
others(13): Show 
HG00733.hp2
HG01884.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+6522T>G
c.-22+6522T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15782639
chr12:15782882 T
T
 C
C
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+6279A>G
c.-22+6279A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15782882
chr12:15783344 G
G
 A
A
 12 a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
others(9): Show 
a0001c0001t0001g0011
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 12 HG01109.hp2
HG01243.hp2
HG01891.hp1
others(9): Show 
HG01109.hp2
HG01243.hp2
HG01891.hp1
HG02622.hp1
HG02717.hp2
HG02886.hp1
HG02922.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+5817C>T
c.-22+5817C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15783344
chr12:15783438 C
C
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.-22+5723G>A
c.-22+5723G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15783438
chr12:15783553 A
A
 G
G
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.-22+5608T>C
c.-22+5608T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15783553
chr12:15783715 TA
TA
 T
T
 9 a0001c0001t0001g0011
a0001c0001t0001g0083
a0001c0001t0002g0009
others(6): Show 
a0001c0001t0001g0011
a0001c0001t0001g0083
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0006
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 9 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(6): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG02922.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
NA19062.hp2
 intron_variant MODIFIER c.-22+5445delT
c.-22+5445delT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15783715
chr12:15783715 TAA
TAA
 T
T
 6 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(3): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0002g0026
 6 HG00597.hp2
HG01243.hp2
HG02258.hp1
others(3): Show 
HG00597.hp2
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+5444_-22+5445d
others(4): Show 
c.-22+5444_-22+5445delTT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15783715
chr12:15783715 TAAA
TAAA
 T
T
 15 a0001c0001t0001g0024
a0001c0001t0002g0022
a0001c0002t0001g0069
others(12): Show 
a0001c0001t0001g0024
a0001c0001t0002g0022
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0008g0023
a0002c0004t0001g0079
 15 HG00733.hp2
HG01884.hp1
HG02055.hp2
others(12): Show 
HG00733.hp2
HG01884.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+5443_-22+5445d
others(5): Show 
c.-22+5443_-22+5445delTTT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15783715
chr12:15783740 A
A
 C
C
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+5421T>G
c.-22+5421T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15783740
chr12:15783889 C
C
 T
T
 1 a0001c0001t0001g0021
a0001c0001t0001g0021
 1 HG01256.hp2
HG01256.hp2
 intron_variant MODIFIER c.-22+5272G>A
c.-22+5272G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15783889
chr12:15784139 G
G
 T
T
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.-22+5022C>A
c.-22+5022C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15784139
chr12:15784525 C
C
 A
A
 3 a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0003t0006g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0003t0006g0066
 3 HG02559.hp1
HG03516.hp2
NA19030.hp2
HG02559.hp1
HG03516.hp2
NA19030.hp2
 intron_variant MODIFIER c.-22+4636G>T
c.-22+4636G>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15784525
chr12:15785010 C
C
 T
T
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
 4 HG01243.hp2
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01243.hp2
HG02622.hp1
HG02717.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+4151G>A
c.-22+4151G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15785010
chr12:15785026 T
T
 C
C
 12 a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
others(9): Show 
a0001c0002t0001g0069
a0001c0002t0001g0070
a0001c0002t0001g0071
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0075
a0001c0002t0001g0076
a0001c0002t0001g0077
a0001c0002t0001g0078
a0001c0002t0001g0080
a0002c0004t0001g0079
 12 HG02055.hp2
HG02109.hp1
HG02145.hp1
others(9): Show 
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02630.hp2
HG02717.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03516.hp1
HG03579.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+4135A>G
c.-22+4135A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15785026
chr12:15785177 C
C
 G
G
 4 a0001c0001t0003g0004
a0001c0002t0003g0001
a0001c0002t0003g0002
others(1): Show 
a0001c0001t0003g0004
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
 4 HG01109.hp1
HG02055.hp1
NA18906.hp1
others(1): Show 
HG01109.hp1
HG02055.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.-22+3984G>C
c.-22+3984G>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15785177
chr12:15785542 A
A
 C
C
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+3619T>G
c.-22+3619T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15785542
chr12:15785691 C
C
 T
T
 1 a0001c0007t0012g0015
a0001c0007t0012g0015
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.-22+3470G>A
c.-22+3470G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15785691
chr12:15785781 AAAGT
AAAGT
 A
A
 7 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 7 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(4): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.-22+3376_-22+3379d
others(6): Show 
c.-22+3376_-22+3379delACTT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15785781
chr12:15785970 A
A
 C
C
 1 a0001c0002t0005g0014
a0001c0002t0005g0014
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.-22+3191T>G
c.-22+3191T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15785970
chr12:15786848 G
G
 A
A
 2 a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0101
a0001c0001t0001g0102
 2 NA18978.hp2
NA19063.hp1
NA18978.hp2
NA19063.hp1
 intron_variant MODIFIER c.-22+2313C>T
c.-22+2313C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15786848
chr12:15787060 A
A
 T
T
 1 a0001c0001t0001g0082
a0001c0001t0001g0082
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.-22+2101T>A
c.-22+2101T>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15787060
chr12:15787172 G
G
 A
A
 1 a0002c0004t0001g0081
a0002c0004t0001g0081
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.-22+1989C>T
c.-22+1989C>T
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15787172
chr12:15787514 G
G
 T
T
 7 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 7 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(4): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.-22+1647C>A
c.-22+1647C>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15787514
chr12:15787595 A
A
 C
C
 3 a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
a0001c0002t0003g0001
a0001c0002t0003g0002
a0001c0002t0003g0003
 3 HG01109.hp1
HG02055.hp1
NA19240.hp2
HG01109.hp1
HG02055.hp1
NA19240.hp2
 intron_variant MODIFIER c.-22+1566T>G
c.-22+1566T>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15787595
chr12:15787762 CA
CA
 C
C
 7 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 7 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(4): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.-22+1398delT
c.-22+1398delT
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15787762
chr12:15787836 T
T
 C
C
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+1325A>G
c.-22+1325A>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15787836
chr12:15788119 C
C
 T
T
 1 a0001c0010t0004g0007
a0001c0010t0004g0007
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.-22+1042G>A
c.-22+1042G>A
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15788119
chr12:15788236 A
A
 G
G
 7 a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0002g0009
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0002t0001g0008
a0001c0002t0001g0010
a0001c0010t0004g0007
 7 HG01109.hp2
HG01891.hp1
HG02886.hp1
others(4): Show 
HG01109.hp2
HG01891.hp1
HG02886.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.-22+925T>C
c.-22+925T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15788236
chr12:15788434 G
G
 C
C
 21 a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
others(18): Show 
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0007g0084
a0001c0001t0007g0093
a0001c0009t0001g0088
a0002c0004t0001g0098
a0003c0006t0001g0091
 21 HG00597.hp1
HG00621.hp1
HG00738.hp2
others(18): Show 
HG00597.hp1
HG00621.hp1
HG00738.hp2
HG01243.hp1
HG01256.hp1
HG01261.hp1
HG02132.hp2
HG02300.hp1
HG02523.hp1
HG02523.hp2
HG03017.hp1
HG03017.hp2
HG03579.hp2
HG03831.hp1
HG06807.hp1
NA18944.hp2
NA18978.hp2
NA19062.hp2
NA19063.hp1
NA19087.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-22+727C>G
c.-22+727C>G
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15788434
chr12:15788487 A
A
 G
G
 1 a0001c0002t0001g0006
a0001c0002t0001g0006
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-22+674T>C
c.-22+674T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15788487
chr12:15788550 A
A
 G
G
 1 a0001c0001t0001g0005
a0001c0001t0001g0005
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.-22+611T>C
c.-22+611T>C
EPS8 ENSG00000151491.14 transcript ENST00000281172.10 protein_coding 1/20 chr12 15788550

  • 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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  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.