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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   EPS15_chr1_51349263_51524266  EPS15_chr1_51349263_51524266 (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 2060
ensemblid ENSG00000085832.18
hgncid 3419
symbol EPS15
name epidermal growth factor receptor pathway substrate 15
refseq_nuc NM_001981.3
refseq_prot NP_001972.1
ensembl_nuc ENST00000371733.8
ensembl_prot ENSP00000360798.3
mane_status MANE Select
chr chr1
start 51354263
end 51519266
strand -
ver v1.2
region chr1:51354263-51519266
region5000 chr1:51349263-51524266
regionname0 EPS15_chr1_51354263_51519266
regionname5000 EPS15_chr1_51349263_51524266

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/0 896 75 26 19 10 3 16 4 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0002 0/1 896 68 44 11 0 6 6 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0003 0/0 896 2 0 1 0 1 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0004 0/0 896 1 1 0 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0005 0/0 896 1 1 0 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0006 0/0 896 1 0 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0007 0/0 896 1 1 0 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0008 0/0 896 1 1 0 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0009 0/0 896 1 1 0 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0010 0/0 896 1 1 0 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/1 2691 53 35 9 0 6 2 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
c0002 0/0 2691 49 20 7 10 1 11 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
c0003 1/0 2691 24 5 12 0 1 5 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
c0004 0/0 2691 13 7 2 0 0 4 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
c0005 0/0 2691 2 0 1 0 1 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
c0006 0/0 2691 2 1 0 0 1 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
c0007 0/0 2691 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
c0008 0/0 2691 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
c0009 0/0 2691 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
c0010 0/0 2691 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
c0011 0/0 2691 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
c0012 0/0 2691 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
c0013 0/0 2691 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
c0014 0/0 2691 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
c0015 0/0 2691 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/0 2473 57 11 18 8 4 15 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
t0002 0/0 2473 17 11 2 0 0 4 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
t0003 0/0 2473 13 13 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
t0004 0/1 2473 12 5 3 0 3 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
t0005 0/0 2474 10 9 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
t0006 0/0 2472 4 4 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
t0007 0/0 2472 4 2 2 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
t0008 0/0 2474 4 0 1 0 3 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
t0009 0/0 2473 4 1 1 0 0 2 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
t0010 0/0 2474 4 4 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
t0011 0/0 2473 4 4 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
t0012 0/0 2470 3 3 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
t0013 0/0 2473 2 0 2 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
t0014 0/0 2474 2 2 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
t0015 0/0 2471 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
t0016 0/0 2472 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
t0017 0/0 2473 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
t0018 0/0 2473 1 0 0 1 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
t0019 0/0 2473 1 0 0 1 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
t0020 0/0 2474 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
t0021 0/0 2474 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
t0022 0/0 2474 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
t0023 0/0 2469 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
t0024 0/0 2469 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
t0025 0/0 2474 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
t0026 0/0 2474 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0002 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0003 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0004 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0005 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0006 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0007 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0008 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0009 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0010 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0011 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0012 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0013 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0014 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0015 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0016 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0017 0/0 1 0 0 0 1 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0018 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0019 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0020 0/0 1 0 0 0 1 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0021 0/0 1 0 0 0 1 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0022 0/0 1 0 0 0 1 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0023 0/1 1 0 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0024 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0025 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0026 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0027 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0028 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0029 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0030 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0031 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0032 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0033 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0034 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0035 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0036 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0037 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0038 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0039 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0040 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0041 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0042 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0043 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0044 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0045 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0046 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0047 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0048 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0049 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0050 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0051 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0052 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0053 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0054 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0055 0/0 1 0 0 1 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0056 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0057 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0058 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0059 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0060 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0061 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0062 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0063 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0064 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0065 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0066 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0067 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0068 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0069 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0070 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0071 1/0 1 0 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0072 0/0 1 0 0 1 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0073 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0074 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0075 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0076 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0077 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0078 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0079 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0080 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0081 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0082 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0083 0/0 1 0 0 1 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0084 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0085 0/0 1 0 0 1 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0086 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0087 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0088 0/0 1 0 0 0 1 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0089 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0090 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0091 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0092 0/0 1 0 0 1 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0093 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0094 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0095 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0096 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0097 0/0 1 0 0 0 1 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0098 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0099 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0100 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0101 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0102 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0103 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0104 0/0 1 0 0 0 1 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0105 0/0 1 0 0 1 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0106 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0107 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0108 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0109 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0110 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0111 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0112 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0113 0/0 1 0 0 1 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0114 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0115 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0116 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0117 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0118 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0119 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0120 0/0 1 0 0 0 1 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0121 0/0 1 0 0 0 1 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0122 0/0 1 0 0 0 1 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0123 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0124 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0125 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0126 0/0 1 0 0 1 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0127 0/0 1 0 0 1 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0128 0/0 1 0 0 1 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0129 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0130 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0131 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0132 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0133 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0134 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0135 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0136 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0137 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0138 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0139 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0140 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0141 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0142 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0143 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0144 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0145 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0146 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0147 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0148 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0149 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0150 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0151 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
g0152 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0002 0/0 2691 49 20 7 10 1 11 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0001c0003 1/0 2691 24 5 12 0 1 5 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0001c0006 0/0 2691 2 1 0 0 1 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0002c0001 0/1 2691 53 35 9 0 6 2 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0002c0004 0/0 2691 13 7 2 0 0 4 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0002c0007 0/0 2691 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0002c0014 0/0 2691 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0003c0005 0/0 2691 2 0 1 0 1 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0004c0015 0/0 2691 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0005c0008 0/0 2691 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0006c0010 0/0 2691 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0007c0009 0/0 2691 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0008c0011 0/0 2691 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0009c0012 0/0 2691 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0010c0013 0/0 2691 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0002t0001 0/0 5163 29 5 5 8 1 10 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0001c0002t0002 0/0 5163 2 2 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0001c0002t0003 0/0 5163 12 12 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0001c0002t0013 0/0 5163 2 0 2 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0001c0002t0017 0/0 5163 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0001c0002t0018 0/0 5163 1 0 0 1 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0001c0002t0019 0/0 5163 1 0 0 1 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0001c0002t0020 0/0 5164 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0001c0003t0001 1/0 5163 23 4 12 0 1 5 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0001c0003t0003 0/0 5163 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0001c0006t0001 0/0 5163 2 1 0 0 1 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0002c0001t0004 0/1 5163 12 5 3 0 3 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0002c0001t0005 0/0 5164 10 9 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0002c0001t0006 0/0 5162 4 4 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0002c0001t0007 0/0 5162 3 1 2 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0002c0001t0008 0/0 5164 4 0 1 0 3 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0002c0001t0009 0/0 5163 4 1 1 0 0 2 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0002c0001t0010 0/0 5164 3 3 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0002c0001t0011 0/0 5163 3 3 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0002c0001t0012 0/0 5160 3 3 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0002c0001t0014 0/0 5164 2 2 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0002c0001t0016 0/0 5162 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0002c0001t0021 0/0 5164 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0002c0001t0022 0/0 5164 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0002c0001t0023 0/0 5159 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0002c0001t0024 0/0 5159 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0002c0004t0002 0/0 5163 13 7 2 0 0 4 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0002c0007t0010 0/0 5164 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0002c0014t0002 0/0 5163 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0003c0005t0001 0/0 5163 2 0 1 0 1 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0004c0015t0011 0/0 5163 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0005c0008t0002 0/0 5163 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0006c0010t0026 0/0 5164 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0007c0009t0015 0/0 5161 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0008c0011t0025 0/0 5164 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0009c0012t0007 0/0 5162 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266
a0010c0013t0001 0/0 5163 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 copy fasta chr1 51349263 51524266

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0002t0001g0026 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0045 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0046 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0047 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0048 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0051 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0052 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0056 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0064 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0072 0/0 1 0 0 1 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0073 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0078 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0079 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0080 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0082 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0083 0/0 1 0 0 1 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0084 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0085 0/0 1 0 0 1 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0086 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0087 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0088 0/0 1 0 0 0 1 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0091 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0092 0/0 1 0 0 1 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0111 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0113 0/0 1 0 0 1 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0114 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0126 0/0 1 0 0 1 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0127 0/0 1 0 0 1 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0001g0128 0/0 1 0 0 1 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0002g0030 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0002g0031 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0003g0049 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0003g0058 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0003g0059 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0003g0060 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0003g0061 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0003g0069 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0003g0070 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0003g0074 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0003g0075 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0003g0076 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0003g0077 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0003g0106 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0013g0062 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0013g0065 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0017g0032 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0018g0105 0/0 1 0 0 1 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0019g0055 0/0 1 0 0 1 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0002t0020g0050 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0003t0001g0053 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0003t0001g0066 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0003t0001g0067 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0003t0001g0068 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0003t0001g0071 1/0 1 0 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0003t0001g0081 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0003t0001g0089 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0003t0001g0090 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0003t0001g0093 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0003t0001g0094 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0003t0001g0095 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0003t0001g0096 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0003t0001g0097 0/0 1 0 0 0 1 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0003t0001g0098 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0003t0001g0099 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0003t0001g0100 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0003t0001g0101 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0003t0001g0102 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0003t0001g0103 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0003t0001g0107 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0003t0001g0108 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0003t0001g0109 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0003t0001g0110 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0003t0003g0054 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0006t0001g0104 0/0 1 0 0 0 1 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0001c0006t0001g0112 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0004g0018 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0004g0019 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0004g0020 0/0 1 0 0 0 1 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0004g0021 0/0 1 0 0 0 1 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0004g0022 0/0 1 0 0 0 1 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0004g0023 0/1 1 0 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0004g0024 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0004g0025 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0004g0038 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0004g0039 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0004g0040 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0004g0124 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0005g0138 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0005g0139 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0005g0141 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0005g0142 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0005g0143 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0005g0144 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0005g0146 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0005g0148 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0005g0149 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0005g0150 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0006g0028 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0006g0029 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0006g0034 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0006g0035 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0007g0133 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0007g0134 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0007g0135 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0008g0120 0/0 1 0 0 0 1 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0008g0121 0/0 1 0 0 0 1 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0008g0122 0/0 1 0 0 0 1 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0008g0123 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0009g0116 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0009g0117 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0009g0118 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0009g0119 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0010g0041 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0010g0042 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0010g0044 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0011g0130 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0011g0131 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0011g0132 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0012g0001 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0012g0002 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0012g0003 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0014g0036 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0014g0037 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0016g0027 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0021g0147 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0022g0115 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0023g0151 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0001t0024g0145 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0004t0002g0004 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0004t0002g0005 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0004t0002g0006 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0004t0002g0007 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0004t0002g0008 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0004t0002g0009 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0004t0002g0011 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0004t0002g0012 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0004t0002g0013 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0004t0002g0014 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0004t0002g0015 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0004t0002g0016 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0004t0002g0137 0/0 1 0 0 0 0 1 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0007t0010g0043 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0002c0014t0002g0010 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0003c0005t0001g0017 0/0 1 0 0 0 1 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0003c0005t0001g0057 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0004c0015t0011g0152 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0005c0008t0002g0033 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0006c0010t0026g0129 0/0 1 0 1 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0007c0009t0015g0125 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0008c0011t0025g0140 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0009c0012t0007g0136 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
a0010c0013t0001g0063 0/0 1 1 0 0 0 0 EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00438 hp1 a0001 c0002 t0001 g0127 EAS CHS EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG00438 hp2 a0001 c0002 t0001 g0092 EAS CHS EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG00558 hp1 a0001 c0002 t0001 g0072 EAS CHS EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG00558 hp2 a0001 c0002 t0019 g0055 EAS CHS EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG00639 hp1 a0001 c0002 t0001 g0080 AMR PUR EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG00639 hp2 a0001 c0002 t0001 g0026 AMR PUR EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG00642 hp1 a0002 c0001 t0007 g0133 AMR PUR EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG00642 hp2 a0001 c0003 t0001 g0053 AMR PUR EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG00733 hp1 a0001 c0003 t0001 g0102 AMR PUR EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG00733 hp2 a0002 c0001 t0004 g0024 AMR PUR EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG00735 hp1 a0002 c0001 t0004 g0018 AMR PUR EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG00735 hp2 a0002 c0001 t0009 g0117 AMR PUR EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG00738 hp1 a0002 c0001 t0008 g0123 AMR PUR EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG00738 hp2 a0001 c0003 t0001 g0093 AMR PUR EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG00741 hp1 a0001 c0003 t0001 g0066 AMR PUR EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG00741 hp2 a0001 c0002 t0013 g0062 AMR PUR EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01074 hp1 a0001 c0003 t0001 g0109 AMR PUR EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01074 hp2 a0001 c0003 t0001 g0067 AMR PUR EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01109 hp1 a0002 c0001 t0005 g0143 AMR PUR EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01109 hp2 a0006 c0010 t0026 g0129 AMR PUR EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01167 hp1 a0001 c0003 t0001 g0110 AMR PUR EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01167 hp2 a0002 c0004 t0002 g0009 AMR PUR EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01168 hp1 a0001 c0003 t0001 g0100 AMR PUR EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01168 hp2 a0001 c0002 t0001 g0079 AMR PUR EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01175 hp1 a0002 c0001 t0024 g0145 AMR PUR EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01175 hp2 a0001 c0002 t0001 g0064 AMR PUR EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01192 hp1 a0002 c0001 t0004 g0019 AMR PUR EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01192 hp2 a0001 c0003 t0001 g0094 AMR PUR EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01257 hp1 a0003 c0005 t0001 g0057 AMR CLM EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01257 hp2 a0002 c0001 t0007 g0135 AMR CLM EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01261 hp1 a0001 c0003 t0001 g0099 AMR CLM EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01261 hp2 a0001 c0002 t0001 g0084 AMR CLM EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01346 hp1 a0002 c0004 t0002 g0004 AMR CLM EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01346 hp2 a0001 c0003 t0001 g0108 AMR CLM EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01515 hp1 a0001 c0003 t0001 g0097 EUR IBS EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01515 hp2 a0002 c0001 t0004 g0021 EUR IBS EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01516 hp1 a0002 c0001 t0008 g0120 EUR IBS EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01516 hp2 a0001 c0006 t0001 g0104 EUR IBS EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01517 hp1 a0002 c0001 t0008 g0121 EUR IBS EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01517 hp2 a0002 c0001 t0004 g0020 EUR IBS EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01884 hp1 a0001 c0003 t0001 g0090 AFR ACB EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01884 hp2 a0002 c0001 t0021 g0147 AFR ACB EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01891 hp1 a0002 c0004 t0002 g0006 AFR ACB EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01891 hp2 a0002 c0001 t0005 g0150 AFR ACB EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01952 hp1 a0001 c0002 t0013 g0065 AMR PEL EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG01952 hp2 a0001 c0003 t0001 g0101 AMR PEL EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02055 hp1 a0001 c0002 t0003 g0058 AFR ACB EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02055 hp2 a0002 c0001 t0005 g0146 AFR ACB EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02145 hp1 a0001 c0002 t0001 g0052 AFR ACB EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02145 hp2 a0001 c0003 t0003 g0054 AFR ACB EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02257 hp1 a0002 c0001 t0012 g0001 AFR ACB EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02257 hp2 a0008 c0011 t0025 g0140 AFR ACB EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02258 hp1 a0001 c0003 t0001 g0089 AFR ACB EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02258 hp2 a0002 c0001 t0023 g0151 AFR ACB EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02451 hp1 a0001 c0002 t0003 g0059 AFR ACB EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02451 hp2 a0002 c0001 t0014 g0037 AFR ACB EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02572 hp1 a0002 c0001 t0006 g0028 AFR GWD EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02572 hp2 a0001 c0002 t0001 g0045 AFR GWD EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02615 hp1 a0002 c0001 t0005 g0144 AFR GWD EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02615 hp2 a0001 c0006 t0001 g0112 AFR GWD EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02630 hp1 a0002 c0001 t0004 g0039 AFR GWD EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02630 hp2 a0001 c0002 t0002 g0031 AFR GWD EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02647 hp1 a0001 c0002 t0001 g0046 AFR GWD EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02647 hp2 a0001 c0002 t0003 g0076 AFR GWD EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02717 hp1 a0001 c0002 t0017 g0032 AFR GWD EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02717 hp2 a0002 c0001 t0010 g0042 AFR GWD EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02723 hp1 a0001 c0002 t0003 g0106 AFR GWD EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02723 hp2 a0002 c0004 t0002 g0008 AFR GWD EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02735 hp1 a0001 c0003 t0001 g0098 SAS PJL EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02735 hp2 a0002 c0004 t0002 g0013 SAS PJL EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02738 hp1 a0001 c0002 t0020 g0050 SAS PJL EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02738 hp2 a0002 c0004 t0002 g0014 SAS PJL EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02818 hp1 a0002 c0001 t0010 g0044 AFR GWD EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02818 hp2 a0001 c0002 t0001 g0048 AFR GWD EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02922 hp1 a0002 c0004 t0002 g0011 AFR ESN EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02922 hp2 a0002 c0001 t0004 g0025 AFR ESN EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02970 hp1 a0010 c0013 t0001 g0063 AFR ESN EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02970 hp2 a0002 c0004 t0002 g0012 AFR ESN EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02976 hp1 a0005 c0008 t0002 g0033 AFR ESN EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02976 hp2 a0002 c0001 t0014 g0036 AFR ESN EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03041 hp1 a0002 c0001 t0016 g0027 AFR GWD EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03041 hp2 a0001 c0002 t0003 g0049 AFR GWD EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03098 hp1 a0002 c0001 t0006 g0034 AFR MSL EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03098 hp2 a0001 c0002 t0003 g0074 AFR MSL EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03130 hp1 a0009 c0012 t0007 g0136 AFR ESN EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03130 hp2 a0001 c0002 t0003 g0070 AFR ESN EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03139 hp1 a0002 c0001 t0005 g0141 AFR ESN EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03139 hp2 a0002 c0001 t0012 g0003 AFR ESN EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03195 hp1 a0002 c0001 t0011 g0132 AFR ESN EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03195 hp2 a0002 c0004 t0002 g0015 AFR ESN EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03209 hp1 a0002 c0001 t0005 g0139 AFR MSL EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03209 hp2 a0002 c0001 t0010 g0041 AFR MSL EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03453 hp1 a0001 c0003 t0001 g0081 AFR MSL EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03453 hp2 a0002 c0001 t0004 g0040 AFR MSL EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03486 hp1 a0007 c0009 t0015 g0125 AFR MSL EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03486 hp2 a0002 c0001 t0005 g0149 AFR MSL EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03491 hp1 a0002 c0001 t0009 g0118 SAS PJL EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03491 hp2 a0001 c0002 t0001 g0082 SAS PJL EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03492 hp1 a0001 c0002 t0001 g0073 SAS PJL EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03492 hp2 a0002 c0001 t0009 g0119 SAS PJL EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03540 hp1 a0001 c0002 t0003 g0077 AFR GWD EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03540 hp2 a0001 c0003 t0001 g0095 AFR GWD EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03654 hp1 a0002 c0004 t0002 g0137 SAS PJL EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03654 hp2 a0001 c0002 t0001 g0086 SAS PJL EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03688 hp1 a0001 c0002 t0001 g0087 SAS STU EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03688 hp2 a0001 c0002 t0001 g0051 SAS STU EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03834 hp1 a0001 c0003 t0001 g0068 SAS BEB EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03834 hp2 a0001 c0003 t0001 g0103 SAS BEB EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG04115 hp1 a0001 c0003 t0001 g0107 SAS STU EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG04115 hp2 a0001 c0002 t0001 g0111 SAS STU EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG04199 hp1 a0002 c0004 t0002 g0005 SAS STU EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG04199 hp2 a0001 c0002 t0001 g0056 SAS STU EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG04204 hp1 a0001 c0002 t0001 g0114 SAS STU EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG04204 hp2 a0001 c0003 t0001 g0096 SAS STU EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG04228 hp1 a0001 c0002 t0001 g0078 SAS STU EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG04228 hp2 a0001 c0002 t0001 g0091 SAS STU EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
NA18522 hp1 a0002 c0004 t0002 g0016 AFR YRI EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
NA18522 hp2 a0002 c0001 t0006 g0029 AFR YRI EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
NA18747 hp1 a0001 c0002 t0001 g0126 EAS CHB EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
NA18747 hp2 a0001 c0002 t0001 g0085 EAS CHB EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
NA18906 hp1 a0001 c0002 t0003 g0069 AFR YRI EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
NA18906 hp2 a0002 c0001 t0006 g0035 AFR YRI EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
NA18957 hp1 a0001 c0002 t0001 g0113 EAS JPT EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
NA18957 hp2 a0001 c0002 t0018 g0105 EAS JPT EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
NA19011 hp1 a0001 c0002 t0001 g0083 EAS JPT EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
NA19011 hp2 a0001 c0002 t0001 g0128 EAS JPT EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
NA19030 hp1 a0002 c0001 t0005 g0138 AFR LWK EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
NA19030 hp2 a0002 c0001 t0009 g0116 AFR LWK EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
NA19043 hp1 a0004 c0015 t0011 g0152 AFR LWK EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
NA19043 hp2 a0002 c0001 t0012 g0002 AFR LWK EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
NA19240 hp1 a0001 c0002 t0002 g0030 AFR YRI EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
NA19240 hp2 a0002 c0001 t0004 g0038 AFR YRI EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
NA20129 hp1 a0001 c0002 t0003 g0061 AFR ASW EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
NA20129 hp2 a0002 c0001 t0007 g0134 AFR ASW EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
NA20752 hp1 a0001 c0002 t0001 g0088 EUR TSI EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
NA20752 hp2 a0003 c0005 t0001 g0017 EUR TSI EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
NA20805 hp1 a0002 c0001 t0004 g0022 EUR TSI EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
NA20805 hp2 a0002 c0001 t0008 g0122 EUR TSI EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02109 hp1 a0002 c0001 t0004 g0124 AFR ACB EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02109 hp2 a0002 c0007 t0010 g0043 AFR ACB EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02486 hp1 a0002 c0001 t0005 g0142 AFR ACB EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02486 hp2 a0002 c0014 t0002 g0010 AFR ACB EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02559 hp1 a0001 c0002 t0003 g0075 AFR ACB EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG02559 hp2 a0002 c0001 t0011 g0131 AFR ACB EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03471 hp1 a0001 c0002 t0001 g0047 AFR MSL EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG03471 hp2 a0002 c0001 t0011 g0130 AFR MSL EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG06807 hp1 a0002 c0001 t0022 g0115 AFR USA EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
HG06807 hp2 a0002 c0004 t0002 g0007 AFR USA EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
NA20300 hp1 a0002 c0001 t0005 g0148 AFR USA EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
NA20300 hp2 a0001 c0002 t0003 g0060 AFR USA EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
homoSapiens_chm13v2 hp1 a0002 c0001 t0004 g0023 REF REF EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266
homoSapiens_grch38 hp1 a0001 c0003 t0001 g0071 REF REF EPS15_chr1_51349263_51524266 EPS15 chr1 51349263 51524266

chr:pos ref alt #
# of ahapid:amino-acid(protein) level
 ahapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr1:51361184 G
G
 A
A
 1 a0006
a0006
 1 HG01109.hp2
HG01109.hp2
 missense_variant MODERATE c.2531C>T
c.2531C>T
 p.Ala844Val
p.Ala844Val
 EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/25 2566/5163 2531/2691 844/896 chr1 51361184
chr1:51361249 T
T
 C
C
 6 a0002
a0004
a0006
others(3): Show 
a0002
a0004
a0006
a0007
a0008
a0009
 73 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(70): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.2466A>G
c.2466A>G
 p.Ile822Met
p.Ile822Met
 EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/25 2501/5163 2466/2691 822/896 chr1 51361249
chr1:51361310 A
A
 T
T
 1 a0007
a0007
 1 HG03486.hp1
HG03486.hp1
 missense_variant MODERATE c.2405T>A
c.2405T>A
 p.Leu802Gln
p.Leu802Gln
 EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/25 2440/5163 2405/2691 802/896 chr1 51361310
chr1:51361312 T
T
 G
G
 1 a0008
a0008
 1 HG02257.hp2
HG02257.hp2
 missense_variant MODERATE c.2403A>C
c.2403A>C
 p.Lys801Asn
p.Lys801Asn
 EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/25 2438/5163 2403/2691 801/896 chr1 51361312
chr1:51405962 A
A
 C
C
 1 a0005
a0005
 1 HG02976.hp1
HG02976.hp1
 missense_variant MODERATE c.1620T>G
c.1620T>G
 p.Asn540Lys
p.Asn540Lys
 EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 16/25 1655/5163 1620/2691 540/896 chr1 51405962
chr1:51408295 G
G
 A
A
 1 a0003
a0003
 2 HG01257.hp1
NA20752.hp2
HG01257.hp1
NA20752.hp2
 missense_variant MODERATE c.1313C>T
c.1313C>T
 p.Ser438Leu
p.Ser438Leu
 EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 15/25 1348/5163 1313/2691 438/896 chr1 51408295
chr1:51446966 T
T
 C
C
 1 a0009
a0009
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.791A>G
c.791A>G
 p.His264Arg
p.His264Arg
 EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 10/25 826/5163 791/2691 264/896 chr1 51446966
chr1:51463782 T
T
 C
C
 1 a0010
a0010
 1 HG02970.hp1
HG02970.hp1
 missense_variant MODERATE c.392A>G
c.392A>G
 p.Lys131Arg
p.Lys131Arg
 EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/25 427/5163 392/2691 131/896 chr1 51463782
chr1:51519209 G
G
 A
A
 1 a0004
a0004
 1 NA19043.hp1
NA19043.hp1
 missense_variant MODERATE c.23C>T
c.23C>T
 p.Ser8Phe
p.Ser8Phe
 EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/25 58/5163 23/2691 8/896 chr1 51519209

chr:pos ref alt #
# of chapid
 chapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr1:51408185 A
A
 G
G
 1 a0002c0007
a0002c0007
 1 HG02109.hp2
HG02109.hp2
 synonymous_variant LOW c.1423T>C
c.1423T>C
 p.Leu475Leu
p.Leu475Leu
 EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 15/25 1458/5163 1423/2691 475/896 chr1 51408185
chr1:51408218 A
A
 G
G
 1 a0009c0012
a0009c0012
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.1390T>C
c.1390T>C
 p.Leu464Leu
p.Leu464Leu
 EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 15/25 1425/5163 1390/2691 464/896 chr1 51408218
chr1:51408279 G
G
 A
A
 13 a0001c0002
a0002c0001
a0002c0004
others(10): Show 
a0001c0002
a0002c0001
a0002c0004
a0002c0007
a0002c0014
a0003c0005
a0004c0015
a0005c0008
a0006c0010
a0007c0009
a0008c0011
a0009c0012
a0010c0013
 126 HG00438.hp1
HG00438.hp2
HG00558.hp1
others(123): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp1
HG01257.hp2
HG01261.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18957.hp1
NA18957.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.1329C>T
c.1329C>T
 p.Tyr443Tyr
p.Tyr443Tyr
 EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 15/25 1364/5163 1329/2691 443/896 chr1 51408279
chr1:51447088 T
T
 G
G
 2 a0002c0004
a0002c0014
a0002c0004
a0002c0014
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 synonymous_variant LOW c.669A>C
c.669A>C
 p.Ala223Ala
p.Ala223Ala
 EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 10/25 704/5163 669/2691 223/896 chr1 51447088
chr1:51448094 C
C
 A
A
 1 a0001c0006
a0001c0006
 2 HG01516.hp2
HG02615.hp2
HG01516.hp2
HG02615.hp2
 synonymous_variant LOW c.603G>T
c.603G>T
 p.Val201Val
p.Val201Val
 EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 9/25 638/5163 603/2691 201/896 chr1 51448094
chr1:51471723 G
G
 A
A
 1 a0002c0014
a0002c0014
 1 HG02486.hp2
HG02486.hp2
 synonymous_variant LOW c.180C>T
c.180C>T
 p.Ala60Ala
p.Ala60Ala
 EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/25 215/5163 180/2691 60/896 chr1 51471723

chr:pos ref alt #
# of thapid:transcript level
 thapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr1:51354297 G
G
 A
A
 1 a0002c0001t0008
a0002c0001t0008
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 3_prime_UTR_variant MODIFIER c.*2403C>T
c.*2403C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 25/25 2403 chr1 51354297
chr1:51354339 G
G
 C
C
 1 a0002c0001t0016
a0002c0001t0016
 1 HG03041.hp1
HG03041.hp1
 3_prime_UTR_variant MODIFIER c.*2361C>G
c.*2361C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 25/25 2361 chr1 51354339
chr1:51354344 T
T
 A
A
 5 a0002c0001t0007
a0002c0001t0011
a0004c0015t0011
others(2): Show 
a0002c0001t0007
a0002c0001t0011
a0004c0015t0011
a0006c0010t0026
a0009c0012t0007
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 3_prime_UTR_variant MODIFIER c.*2356A>T
c.*2356A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 25/25 2356 chr1 51354344
chr1:51354653 C
C
 T
T
 3 a0002c0001t0004
a0002c0001t0010
a0002c0007t0010
a0002c0001t0004
a0002c0001t0010
a0002c0007t0010
 16 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(13): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02109.hp2
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG03209.hp2
HG03453.hp2
NA19240.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*2047G>A
c.*2047G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 25/25 2047 chr1 51354653
chr1:51354654 G
G
 A
A
 2 a0001c0002t0013
a0002c0001t0021
a0001c0002t0013
a0002c0001t0021
 3 HG00741.hp2
HG01884.hp2
HG01952.hp1
HG00741.hp2
HG01884.hp2
HG01952.hp1
 3_prime_UTR_variant MODIFIER c.*2046C>T
c.*2046C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 25/25 2046 chr1 51354654
chr1:51354743 G
G
 A
A
 2 a0002c0001t0007
a0009c0012t0007
a0002c0001t0007
a0009c0012t0007
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 3_prime_UTR_variant MODIFIER c.*1957C>T
c.*1957C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 25/25 1957 chr1 51354743
chr1:51354916 G
G
 A
A
 2 a0002c0001t0009
a0002c0001t0022
a0002c0001t0009
a0002c0001t0022
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 3_prime_UTR_variant MODIFIER c.*1784C>T
c.*1784C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 25/25 1784 chr1 51354916
chr1:51355318 T
T
 G
G
 26 a0001c0002t0002
a0001c0002t0017
a0002c0001t0004
others(23): Show 
a0001c0002t0002
a0001c0002t0017
a0002c0001t0004
a0002c0001t0005
a0002c0001t0006
a0002c0001t0007
a0002c0001t0008
a0002c0001t0009
a0002c0001t0010
a0002c0001t0011
a0002c0001t0012
a0002c0001t0014
a0002c0001t0016
a0002c0001t0021
a0002c0001t0022
a0002c0001t0023
a0002c0001t0024
a0002c0004t0002
a0002c0007t0010
a0002c0014t0002
a0004c0015t0011
a0005c0008t0002
a0006c0010t0026
a0007c0009t0015
a0008c0011t0025
a0009c0012t0007
 77 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(74): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1382A>C
c.*1382A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 25/25 1382 chr1 51355318
chr1:51355374 A
A
 C
C
 5 a0002c0001t0005
a0002c0001t0021
a0002c0001t0023
others(2): Show 
a0002c0001t0005
a0002c0001t0021
a0002c0001t0023
a0002c0001t0024
a0008c0011t0025
 14 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(11): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*1326T>G
c.*1326T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 25/25 1326 chr1 51355374
chr1:51355554 G
G
 GT
GT
 2 a0001c0002t0020
a0002c0001t0008
a0001c0002t0020
a0002c0001t0008
 5 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(2): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
HG02738.hp1
NA20805.hp2
 3_prime_UTR_variant MODIFIER c.*1145dupA
c.*1145dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 25/25 1145 chr1 51355554
chr1:51355601 G
G
 T
T
 1 a0002c0001t0023
a0002c0001t0023
 1 HG02258.hp2
HG02258.hp2
 3_prime_UTR_variant MODIFIER c.*1099C>A
c.*1099C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 25/25 1099 chr1 51355601
chr1:51355605 ATAAAC
ATAAAC
 A
A
 2 a0002c0001t0023
a0002c0001t0024
a0002c0001t0023
a0002c0001t0024
 2 HG01175.hp1
HG02258.hp2
HG01175.hp1
HG02258.hp2
 3_prime_UTR_variant MODIFIER c.*1090_*1094delGTTT
others(1): Show 
c.*1090_*1094delGTTTA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 25/25 1090 chr1 51355605
chr1:51355713 T
T
 TA
TA
 10 a0002c0001t0005
a0002c0001t0010
a0002c0001t0014
others(7): Show 
a0002c0001t0005
a0002c0001t0010
a0002c0001t0014
a0002c0001t0021
a0002c0001t0022
a0002c0001t0023
a0002c0001t0024
a0002c0007t0010
a0006c0010t0026
a0008c0011t0025
 22 HG01109.hp1
HG01109.hp2
HG01175.hp1
others(19): Show 
HG01109.hp1
HG01109.hp2
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02109.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03486.hp2
HG06807.hp1
NA19030.hp1
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*986dupT
c.*986dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 25/25 986 chr1 51355713
chr1:51355811 G
G
 C
C
 1 a0008c0011t0025
a0008c0011t0025
 1 HG02257.hp2
HG02257.hp2
 3_prime_UTR_variant MODIFIER c.*889C>G
c.*889C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 25/25 889 chr1 51355811
chr1:51355883 A
A
 C
C
 1 a0001c0002t0019
a0001c0002t0019
 1 HG00558.hp2
HG00558.hp2
 3_prime_UTR_variant MODIFIER c.*817T>G
c.*817T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 25/25 817 chr1 51355883
chr1:51355948 A
A
 G
G
 1 a0001c0002t0018
a0001c0002t0018
 1 NA18957.hp2
NA18957.hp2
 3_prime_UTR_variant MODIFIER c.*752T>C
c.*752T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 25/25 752 chr1 51355948
chr1:51356094 G
G
 A
A
 1 a0006c0010t0026
a0006c0010t0026
 1 HG01109.hp2
HG01109.hp2
 3_prime_UTR_variant MODIFIER c.*606C>T
c.*606C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 25/25 606 chr1 51356094
chr1:51356201 A
A
 G
G
 1 a0001c0002t0017
a0001c0002t0017
 1 HG02717.hp1
HG02717.hp1
 3_prime_UTR_variant MODIFIER c.*499T>C
c.*499T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 25/25 499 chr1 51356201
chr1:51356458 A
A
 C
C
 2 a0001c0002t0003
a0001c0003t0003
a0001c0002t0003
a0001c0003t0003
 13 HG02055.hp1
HG02145.hp2
HG02451.hp1
others(10): Show 
HG02055.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp1
HG02647.hp2
HG02723.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03540.hp1
NA18906.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*242T>G
c.*242T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 25/25 242 chr1 51356458
chr1:51356516 GA
GA
 G
G
 6 a0002c0001t0007
a0002c0001t0011
a0004c0015t0011
others(3): Show 
a0002c0001t0007
a0002c0001t0011
a0004c0015t0011
a0006c0010t0026
a0007c0009t0015
a0009c0012t0007
 10 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(7): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
HG03486.hp1
NA19043.hp1
NA20129.hp2
 3_prime_UTR_variant MODIFIER c.*183delT
c.*183delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 25/25 183 chr1 51356516
chr1:51356547 G
G
 GA
GA
 3 a0002c0001t0011
a0004c0015t0011
a0006c0010t0026
a0002c0001t0011
a0004c0015t0011
a0006c0010t0026
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 3_prime_UTR_variant MODIFIER c.*152dupT
c.*152dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 25/25 152 chr1 51356547
chr1:51356547 GA
GA
 G
G
 4 a0002c0001t0006
a0002c0001t0012
a0002c0001t0016
others(1): Show 
a0002c0001t0006
a0002c0001t0012
a0002c0001t0016
a0007c0009t0015
 9 HG02257.hp1
HG02572.hp1
HG03041.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 3_prime_UTR_variant MODIFIER c.*152delT
c.*152delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 25/25 152 chr1 51356547
chr1:51356689 AAG
AAG
 A
A
 1 a0002c0001t0012
a0002c0001t0012
 3 HG02257.hp1
HG03139.hp2
NA19043.hp2
HG02257.hp1
HG03139.hp2
NA19043.hp2
 3_prime_UTR_variant MODIFIER c.*9_*10delCT
c.*9_*10delCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 25/25 9 chr1 51356689

chr:pos ref alt #
# of ghapid:genebody level
 ghapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid genebody_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr1:51356874 C
C
 T
T
 1 a0001c0002t0003g0061
a0001c0002t0003g0061
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.2545-28G>A
c.2545-28G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51356874
chr1:51356973 CT
CT
 C
C
 9 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(6): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0007c0009t0015g0125
 9 HG02257.hp1
HG02572.hp1
HG03041.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.2545-128delA
c.2545-128delA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51356973
chr1:51357055 T
T
 C
C
 1 a0002c0001t0012g0002
a0002c0001t0012g0002
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.2545-209A>G
c.2545-209A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357055
chr1:51357059 T
T
 A
A
 1 a0001c0002t0003g0060
a0001c0002t0003g0060
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.2545-213A>T
c.2545-213A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357059
chr1:51357276 G
G
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2545-430C>G
c.2545-430C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357276
chr1:51357325 C
C
 T
T
 1 a0007c0009t0015g0125
a0007c0009t0015g0125
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.2545-479G>A
c.2545-479G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357325
chr1:51357326 G
G
 A
A
 1 a0001c0002t0001g0082
a0001c0002t0001g0082
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.2545-480C>T
c.2545-480C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357326
chr1:51357376 G
G
 GA
GA
 8 a0001c0002t0001g0051
a0001c0002t0001g0064
a0001c0002t0001g0111
others(5): Show 
a0001c0002t0001g0051
a0001c0002t0001g0064
a0001c0002t0001g0111
a0001c0002t0020g0050
a0002c0001t0004g0019
a0002c0001t0004g0124
a0002c0001t0014g0036
a0002c0001t0014g0037
 8 HG01175.hp2
HG01192.hp1
HG02109.hp1
others(5): Show 
HG01175.hp2
HG01192.hp1
HG02109.hp1
HG02451.hp2
HG02738.hp1
HG02976.hp2
HG03688.hp2
HG04115.hp2
 intron_variant MODIFIER c.2545-531dupT
c.2545-531dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357376
chr1:51357376 G
G
 GAAAAAAA
others(4): Show 
GAAAAAAAAAAA
 1 a0002c0001t0023g0151
a0002c0001t0023g0151
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.2545-541_2545-531d
others(13): Show 
c.2545-541_2545-531dupTTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357376
chr1:51357376 G
G
 GAAAAAAA
others(5): Show 
GAAAAAAAAAAAA
 2 a0002c0001t0005g0146
a0002c0001t0024g0145
a0002c0001t0005g0146
a0002c0001t0024g0145
 2 HG01175.hp1
HG02055.hp2
HG01175.hp1
HG02055.hp2
 intron_variant MODIFIER c.2545-542_2545-531d
others(14): Show 
c.2545-542_2545-531dupTTTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357376
chr1:51357376 G
G
 GAAAAAAA
others(6): Show 
GAAAAAAAAAAAAA
 2 a0002c0001t0005g0142
a0002c0001t0005g0148
a0002c0001t0005g0142
a0002c0001t0005g0148
 2 HG02486.hp1
NA20300.hp1
HG02486.hp1
NA20300.hp1
 intron_variant MODIFIER c.2545-543_2545-531d
others(15): Show 
c.2545-543_2545-531dupTTTTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357376
chr1:51357385 AAAAAAAA
others(1): Show 
AAAAAAAAT
 A
A
 5 a0002c0004t0002g0004
a0002c0004t0002g0011
a0002c0004t0002g0012
others(2): Show 
a0002c0004t0002g0004
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0016
a0002c0014t0002g0010
 5 HG01346.hp1
HG02486.hp2
HG02922.hp1
others(2): Show 
HG01346.hp1
HG02486.hp2
HG02922.hp1
HG02970.hp2
NA18522.hp1
 intron_variant MODIFIER c.2545-547_2545-540d
others(10): Show 
c.2545-547_2545-540delATTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357385
chr1:51357387 AAAAAATA
others(3): Show 
AAAAAATATAT
 A
A
 2 a0002c0004t0002g0005
a0002c0004t0002g0014
a0002c0004t0002g0005
a0002c0004t0002g0014
 2 HG02738.hp2
HG04199.hp1
HG02738.hp2
HG04199.hp1
 intron_variant MODIFIER c.2545-551_2545-542d
others(12): Show 
c.2545-551_2545-542delATATATTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357387
chr1:51357387 AAAAAATA
others(9): Show 
AAAAAATATATATATAT
 A
A
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2545-557_2545-542d
others(18): Show 
c.2545-557_2545-542delATATATATATATTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357387
chr1:51357388 AAAAATAT
others(4): Show 
AAAAATATATAT
 A
A
 2 a0002c0001t0007g0135
a0009c0012t0007g0136
a0002c0001t0007g0135
a0009c0012t0007g0136
 2 HG01257.hp2
HG03130.hp1
HG01257.hp2
HG03130.hp1
 intron_variant MODIFIER c.2545-553_2545-543d
others(13): Show 
c.2545-553_2545-543delATATATATTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357388
chr1:51357388 AAAAATAT
others(6): Show 
AAAAATATATATAT
 A
A
 2 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0133
a0002c0001t0007g0134
 2 HG00642.hp1
NA20129.hp2
HG00642.hp1
NA20129.hp2
 intron_variant MODIFIER c.2545-555_2545-543d
others(15): Show 
c.2545-555_2545-543delATATATATATTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357388
chr1:51357389 A
A
 T
T
 1 a0002c0001t0009g0116
a0002c0001t0009g0116
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.2545-543T>A
c.2545-543T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357389
chr1:51357389 AAAATATA
others(13): Show 
AAAATATATATATATATATAT
 A
A
 1 a0010c0013t0001g0063
a0010c0013t0001g0063
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.2545-563_2545-544d
others(22): Show 
c.2545-563_2545-544delATATATATATATATATATTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357389
chr1:51357391 A
A
 AAAAAAAA
others(9): Show 
AAAAAAAAAAAAAAAAT
 1 a0002c0001t0005g0149
a0002c0001t0005g0149
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.2545-546_2545-545i
others(18): Show 
c.2545-546_2545-545insATTTTTTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357391
chr1:51357391 A
A
 AAAAAAAA
others(8): Show 
AAAAAAAAAAAAAAAT
 1 a0008c0011t0025g0140
a0008c0011t0025g0140
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.2545-546_2545-545i
others(17): Show 
c.2545-546_2545-545insATTTTTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357391
chr1:51357391 A
A
 AAAAAAAA
others(10): Show 
AAAAAAAAAAAAAAATAT
 1 a0002c0001t0021g0147
a0002c0001t0021g0147
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.2545-546_2545-545i
others(19): Show 
c.2545-546_2545-545insATATTTTTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357391
chr1:51357391 A
A
 AAAAAAAA
others(14): Show 
AAAAAAAAAAAAATATATATAT
 1 a0002c0001t0005g0139
a0002c0001t0005g0139
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.2545-546_2545-545i
others(23): Show 
c.2545-546_2545-545insATATATATATTTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357391
chr1:51357391 A
A
 AAAAAAAA
others(9): Show 
AAAAAAAAAAAATATAT
 1 a0002c0001t0005g0150
a0002c0001t0005g0150
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.2545-546_2545-545i
others(18): Show 
c.2545-546_2545-545insATATATTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357391
chr1:51357391 A
A
 AAAAAAAA
others(4): Show 
AAAAAAAAAAAT
 1 a0002c0001t0005g0141
a0002c0001t0005g0141
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.2545-546_2545-545i
others(13): Show 
c.2545-546_2545-545insATTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357391
chr1:51357391 A
A
 AAAAAAAA
others(9): Show 
AAAAAAAAAATATATAT
 1 a0002c0001t0010g0042
a0002c0001t0010g0042
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.2545-546_2545-545i
others(18): Show 
c.2545-546_2545-545insATATATATTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357391
chr1:51357391 A
A
 AAAAAAAT
others(8): Show 
AAAAAAATATATATAT
 1 a0002c0001t0010g0041
a0002c0001t0010g0041
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.2545-546_2545-545i
others(17): Show 
c.2545-546_2545-545insATATATATATTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357391
chr1:51357391 A
A
 AAATATAT
others(10): Show 
AAATATATATATATATAT
 2 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0028
a0002c0001t0006g0029
 2 HG02572.hp1
NA18522.hp2
HG02572.hp1
NA18522.hp2
 intron_variant MODIFIER c.2545-546_2545-545i
others(19): Show 
c.2545-546_2545-545insATATATATATATATATT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357391
chr1:51357391 A
A
 AATATATA
others(3): Show 
AATATATATAT
 1 a0001c0003t0001g0066
a0001c0003t0001g0066
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.2545-555_2545-546d
others(12): Show 
c.2545-555_2545-546dupATATATATAT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357391
chr1:51357391 A
A
 AATATATA
others(5): Show 
AATATATATATAT
 1 a0002c0001t0016g0027
a0002c0001t0016g0027
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.2545-557_2545-546d
others(14): Show 
c.2545-557_2545-546dupATATATATATAT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357391
chr1:51357391 A
A
 ATATATAT
others(10): Show 
ATATATATATATATATAT
 1 a0001c0003t0001g0053
a0001c0003t0001g0053
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.2545-546_2545-545i
others(19): Show 
c.2545-546_2545-545insATATATATATATATATA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357391
chr1:51357391 A
A
 T
T
 17 a0001c0002t0001g0127
a0001c0003t0001g0068
a0001c0003t0001g0081
others(14): Show 
a0001c0002t0001g0127
a0001c0003t0001g0068
a0001c0003t0001g0081
a0001c0003t0001g0090
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0097
a0001c0003t0001g0100
a0001c0003t0001g0108
a0001c0003t0001g0109
a0001c0006t0001g0104
a0001c0006t0001g0112
a0002c0001t0009g0116
a0002c0001t0022g0115
a0002c0004t0002g0006
a0003c0005t0001g0057
 17 HG00438.hp1
HG00738.hp2
HG01074.hp1
others(14): Show 
HG00438.hp1
HG00738.hp2
HG01074.hp1
HG01168.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01891.hp1
HG02615.hp2
HG03453.hp1
HG03540.hp2
HG03834.hp1
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.2545-545T>A
c.2545-545T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357391
chr1:51357391 AATATATA
others(5): Show 
AATATATATATAT
 A
A
 1 a0002c0004t0002g0008
a0002c0004t0002g0008
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.2545-557_2545-546d
others(14): Show 
c.2545-557_2545-546delATATATATATAT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357391
chr1:51357392 AT
AT
 A
A
 7 a0001c0002t0001g0092
a0002c0001t0004g0020
a0002c0001t0004g0021
others(4): Show 
a0001c0002t0001g0092
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0007c0009t0015g0125
 7 HG00438.hp2
HG00733.hp2
HG01515.hp2
others(4): Show 
HG00438.hp2
HG00733.hp2
HG01515.hp2
HG01517.hp2
HG03486.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2545-547delA
c.2545-547delA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357392
chr1:51357392 ATATAT
ATATAT
 A
A
 2 a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0118
a0002c0001t0009g0119
 2 HG03491.hp1
HG03492.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.2545-551_2545-547d
others(7): Show 
c.2545-551_2545-547delATATA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357392
chr1:51357392 ATATATAT
ATATATAT
 A
A
 2 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0002g0030
a0001c0002t0002g0031
 2 HG02630.hp2
NA19240.hp1
HG02630.hp2
NA19240.hp1
 intron_variant MODIFIER c.2545-553_2545-547d
others(9): Show 
c.2545-553_2545-547delATATATA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357392
chr1:51357392 ATATATAT
others(2): Show 
ATATATATAT
 A
A
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2545-555_2545-547d
others(11): Show 
c.2545-555_2545-547delATATATATA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357392
chr1:51357392 ATATATAT
others(4): Show 
ATATATATATAT
 A
A
 2 a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0006g0034
a0002c0001t0006g0035
 2 HG03098.hp1
NA18906.hp2
HG03098.hp1
NA18906.hp2
 intron_variant MODIFIER c.2545-557_2545-547d
others(13): Show 
c.2545-557_2545-547delATATATATATA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357392
chr1:51357393 T
T
 A
A
 44 a0001c0002t0001g0026
a0001c0002t0001g0048
a0001c0002t0001g0051
others(41): Show 
a0001c0002t0001g0026
a0001c0002t0001g0048
a0001c0002t0001g0051
a0001c0002t0001g0056
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0088
a0001c0002t0001g0091
a0001c0002t0001g0111
a0001c0002t0001g0113
a0001c0002t0001g0114
a0001c0002t0003g0049
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0003g0074
a0001c0002t0003g0077
a0001c0002t0003g0106
a0001c0002t0013g0062
a0001c0002t0013g0065
a0001c0002t0018g0105
a0001c0002t0019g0055
a0001c0002t0020g0050
a0001c0003t0001g0089
a0001c0003t0001g0102
a0001c0003t0003g0054
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0124
a0002c0001t0005g0146
a0002c0001t0010g0044
a0002c0001t0012g0001
a0002c0001t0012g0003
a0002c0001t0014g0037
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0007
 44 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(41): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01952.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02630.hp1
HG02723.hp1
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03492.hp1
HG03540.hp1
HG03654.hp2
HG03688.hp2
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18957.hp1
NA18957.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp1
 intron_variant MODIFIER c.2545-547A>T
c.2545-547A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357393
chr1:51357395 T
T
 A
A
 22 a0001c0002t0001g0086
a0001c0002t0001g0088
a0001c0002t0003g0059
others(19): Show 
a0001c0002t0001g0086
a0001c0002t0001g0088
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0003g0074
a0001c0002t0003g0077
a0001c0002t0003g0106
a0001c0002t0020g0050
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0124
a0002c0001t0005g0146
a0002c0001t0014g0037
a0002c0001t0023g0151
a0002c0004t0002g0007
 22 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(19): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02055.hp2
HG02109.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02630.hp1
HG02723.hp1
HG02738.hp1
HG03098.hp2
HG03540.hp1
HG03654.hp2
HG06807.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2545-549A>T
c.2545-549A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357395
chr1:51357397 T
T
 A
A
 14 a0001c0002t0003g0061
a0001c0002t0003g0077
a0002c0001t0004g0018
others(11): Show 
a0001c0002t0003g0061
a0001c0002t0003g0077
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0124
a0002c0001t0009g0117
 14 HG00733.hp2
HG00735.hp1
HG00735.hp2
others(11): Show 
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02630.hp1
HG02922.hp2
HG03540.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2545-551A>T
c.2545-551A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357397
chr1:51357399 T
T
 A
A
 8 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(5): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
 8 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(5): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2545-553A>T
c.2545-553A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357399
chr1:51357401 T
T
 A
A
 6 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(3): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0025
 6 HG00735.hp1
HG01192.hp1
HG02630.hp2
others(3): Show 
HG00735.hp1
HG01192.hp1
HG02630.hp2
HG02717.hp1
HG02922.hp2
NA19240.hp1
 intron_variant MODIFIER c.2545-555A>T
c.2545-555A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357401
chr1:51357403 T
T
 A
A
 1 a0002c0001t0008g0123
a0002c0001t0008g0123
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.2545-557A>T
c.2545-557A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357403
chr1:51357405 T
T
 A
A
 3 a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0004t0002g0008
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0004t0002g0008
 3 HG02723.hp2
HG03098.hp1
NA18906.hp2
HG02723.hp2
HG03098.hp1
NA18906.hp2
 intron_variant MODIFIER c.2545-559A>T
c.2545-559A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357405
chr1:51357407 T
T
 A
A
 1 a0002c0004t0002g0008
a0002c0004t0002g0008
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.2545-561A>T
c.2545-561A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357407
chr1:51357409 T
T
 A
A
 1 a0002c0004t0002g0008
a0002c0004t0002g0008
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.2545-563A>T
c.2545-563A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357409
chr1:51357411 TATATATA
others(8): Show 
TATATATATATATATA
 T
T
 2 a0002c0001t0012g0001
a0002c0001t0012g0003
a0002c0001t0012g0001
a0002c0001t0012g0003
 2 HG02257.hp1
HG03139.hp2
HG02257.hp1
HG03139.hp2
 intron_variant MODIFIER c.2545-580_2545-566d
others(17): Show 
c.2545-580_2545-566delTATATATATATATAT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357411
chr1:51357421 TATA
TATA
 T
T
 3 a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
 3 HG00438.hp1
NA18747.hp1
NA19011.hp2
HG00438.hp1
NA18747.hp1
NA19011.hp2
 intron_variant MODIFIER c.2545-578_2545-576d
others(5): Show 
c.2545-578_2545-576delTAT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357421
chr1:51357423 TA
TA
 T
T
 12 a0001c0002t0001g0084
a0001c0002t0013g0062
a0001c0002t0013g0065
others(9): Show 
a0001c0002t0001g0084
a0001c0002t0013g0062
a0001c0002t0013g0065
a0001c0003t0001g0100
a0001c0003t0003g0054
a0002c0001t0004g0040
a0002c0001t0005g0144
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0024g0145
a0004c0015t0011g0152
 12 HG00741.hp2
HG01168.hp1
HG01175.hp1
others(9): Show 
HG00741.hp2
HG01168.hp1
HG01175.hp1
HG01261.hp2
HG01952.hp1
HG02145.hp2
HG02559.hp2
HG02615.hp1
HG03195.hp1
HG03453.hp2
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2545-578delT
c.2545-578delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357423
chr1:51357425 TA
TA
 T
T
 21 a0001c0002t0001g0048
a0001c0002t0001g0079
a0001c0002t0001g0080
others(18): Show 
a0001c0002t0001g0048
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0083
a0001c0002t0001g0088
a0001c0002t0001g0091
a0001c0002t0001g0111
a0001c0002t0003g0058
a0001c0002t0003g0106
a0001c0002t0019g0055
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0024
a0002c0001t0005g0146
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0004t0002g0004
a0002c0004t0002g0013
a0002c0004t0002g0137
a0006c0010t0026g0129
 21 HG00558.hp2
HG00639.hp1
HG00733.hp2
others(18): Show 
HG00558.hp2
HG00639.hp1
HG00733.hp2
HG01109.hp2
HG01168.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02055.hp1
HG02055.hp2
HG02723.hp1
HG02735.hp2
HG02818.hp2
HG03098.hp1
HG03654.hp1
HG04115.hp2
HG04228.hp2
NA18906.hp2
NA19011.hp1
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.2545-580delT
c.2545-580delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357425
chr1:51357426 A
A
 AT
AT
 6 a0001c0002t0001g0085
a0001c0002t0001g0113
a0001c0002t0003g0059
others(3): Show 
a0001c0002t0001g0085
a0001c0002t0001g0113
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0003g0075
a0002c0001t0005g0138
 6 HG02451.hp1
HG02559.hp1
NA18747.hp2
others(3): Show 
HG02451.hp1
HG02559.hp1
NA18747.hp2
NA18957.hp1
NA19030.hp1
NA20300.hp2
 intron_variant MODIFIER c.2545-581dupA
c.2545-581dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357426
chr1:51357426 A
A
 ATATATAT
others(13): Show 
ATATATATATATATATATTTT
 1 a0001c0003t0001g0089
a0001c0003t0001g0089
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.2545-581_2545-580i
others(22): Show 
c.2545-581_2545-580insAAAATATATATATATATATA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357426
chr1:51357426 A
A
 ATATATAT
others(4): Show 
ATATATATTTTT
 1 a0002c0001t0010g0044
a0002c0001t0010g0044
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.2545-581_2545-580i
others(13): Show 
c.2545-581_2545-580insAAAAATATATA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357426
chr1:51357426 A
A
 T
T
 38 a0001c0002t0001g0026
a0001c0002t0001g0047
a0001c0002t0001g0078
others(35): Show 
a0001c0002t0001g0026
a0001c0002t0001g0047
a0001c0002t0001g0078
a0001c0002t0001g0082
a0001c0002t0001g0084
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0114
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0013g0062
a0001c0002t0013g0065
a0001c0003t0001g0100
a0001c0003t0001g0103
a0001c0003t0003g0054
a0002c0001t0004g0038
a0002c0001t0004g0040
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0042
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0014g0037
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0007t0010g0043
a0004c0015t0011g0152
a0008c0011t0025g0140
 38 HG00438.hp1
HG00639.hp2
HG00735.hp2
others(35): Show 
HG00438.hp1
HG00639.hp2
HG00735.hp2
HG00741.hp2
HG01109.hp1
HG01168.hp1
HG01175.hp1
HG01261.hp2
HG01891.hp2
HG01952.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG03688.hp1
HG03834.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA19011.hp2
NA19043.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.2545-580T>A
c.2545-580T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357426
chr1:51357426 AT
AT
 A
A
 18 a0001c0002t0001g0045
a0001c0002t0001g0051
a0001c0002t0001g0073
others(15): Show 
a0001c0002t0001g0045
a0001c0002t0001g0051
a0001c0002t0001g0073
a0001c0002t0001g0092
a0001c0002t0003g0049
a0001c0002t0003g0074
a0001c0002t0003g0077
a0001c0002t0020g0050
a0001c0003t0001g0102
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0124
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0014t0002g0010
 18 HG00438.hp2
HG00733.hp1
HG00735.hp1
others(15): Show 
HG00438.hp2
HG00733.hp1
HG00735.hp1
HG01167.hp2
HG01192.hp1
HG02109.hp1
HG02486.hp2
HG02572.hp2
HG02738.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp2
HG03195.hp2
HG03492.hp1
HG03540.hp1
HG03688.hp2
NA18522.hp1
 intron_variant MODIFIER c.2545-581delA
c.2545-581delA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357426
chr1:51357427 T
T
 TA
TA
 2 a0001c0002t0001g0072
a0001c0003t0001g0053
a0001c0002t0001g0072
a0001c0003t0001g0053
 2 HG00558.hp1
HG00642.hp2
HG00558.hp1
HG00642.hp2
 intron_variant MODIFIER c.2545-582_2545-581i
others(3): Show 
c.2545-582_2545-581insT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357427
chr1:51357427 T
T
 TATA
TATA
 2 a0001c0002t0003g0069
a0001c0002t0003g0076
a0001c0002t0003g0069
a0001c0002t0003g0076
 2 HG02647.hp2
NA18906.hp1
HG02647.hp2
NA18906.hp1
 intron_variant MODIFIER c.2545-582_2545-581i
others(5): Show 
c.2545-582_2545-581insTAT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357427
chr1:51357428 T
T
 A
A
 23 a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0068
others(20): Show 
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0068
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0098
a0001c0003t0001g0099
a0001c0003t0001g0101
a0001c0003t0001g0108
a0001c0003t0001g0109
a0001c0003t0001g0110
a0001c0006t0001g0112
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0009g0116
a0002c0001t0014g0036
a0002c0001t0016g0027
a0002c0001t0022g0115
a0002c0004t0002g0005
a0002c0004t0002g0014
a0003c0005t0001g0017
a0007c0009t0015g0125
 23 HG00741.hp1
HG01074.hp1
HG01074.hp2
others(20): Show 
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01167.hp1
HG01192.hp2
HG01261.hp1
HG01346.hp2
HG01952.hp2
HG02572.hp1
HG02615.hp2
HG02735.hp1
HG02738.hp2
HG02976.hp2
HG03041.hp1
HG03486.hp1
HG03540.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA19030.hp2
NA20752.hp2
 intron_variant MODIFIER c.2545-582A>T
c.2545-582A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357428
chr1:51357429 T
T
 A
A
 3 a0001c0002t0001g0045
a0001c0002t0001g0051
a0001c0003t0001g0053
a0001c0002t0001g0045
a0001c0002t0001g0051
a0001c0003t0001g0053
 3 HG00642.hp2
HG02572.hp2
HG03688.hp2
HG00642.hp2
HG02572.hp2
HG03688.hp2
 intron_variant MODIFIER c.2545-583A>T
c.2545-583A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357429
chr1:51357430 T
T
 A
A
 5 a0001c0003t0001g0068
a0001c0003t0001g0096
a0002c0001t0006g0028
others(2): Show 
a0001c0003t0001g0068
a0001c0003t0001g0096
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0022g0115
 5 HG02572.hp1
HG03834.hp1
HG04204.hp2
others(2): Show 
HG02572.hp1
HG03834.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp2
 intron_variant MODIFIER c.2545-584A>T
c.2545-584A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357430
chr1:51357439 A
A
 T
T
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.2545-593T>A
c.2545-593T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357439
chr1:51357445 G
G
 GAT
GAT
 6 a0001c0002t0001g0086
a0002c0001t0009g0116
a0002c0001t0009g0117
others(3): Show 
a0001c0002t0001g0086
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 6 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(3): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.2545-601_2545-600d
others(4): Show 
c.2545-601_2545-600dupAT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357445
chr1:51357445 GAT
GAT
 G
G
 53 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0003g0074
others(50): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0003g0074
a0001c0002t0017g0032
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 53 HG00642.hp1
HG00738.hp1
HG01109.hp1
others(50): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01257.hp2
HG01346.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp2
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03654.hp1
HG04199.hp1
NA18522.hp1
NA18522.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.2545-601_2545-600d
others(4): Show 
c.2545-601_2545-600delAT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357445
chr1:51357462 A
A
 C
C
 7 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
others(4): Show 
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 7 HG02109.hp2
HG02630.hp1
HG02717.hp2
others(4): Show 
HG02109.hp2
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG03209.hp2
HG03453.hp2
NA19240.hp2
 intron_variant MODIFIER c.2545-616T>G
c.2545-616T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357462
chr1:51357659 G
G
 GA
GA
 11 a0001c0002t0001g0064
a0002c0001t0004g0018
a0002c0001t0004g0019
others(8): Show 
a0001c0002t0001g0064
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0124
a0002c0001t0005g0146
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0007t0010g0043
 11 HG00733.hp2
HG00735.hp1
HG01175.hp2
others(8): Show 
HG00733.hp2
HG00735.hp1
HG01175.hp2
HG01192.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02717.hp2
HG03209.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2545-814dupT
c.2545-814dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357659
chr1:51357740 C
C
 CT
CT
 19 a0001c0003t0001g0094
a0001c0003t0001g0101
a0001c0003t0001g0103
others(16): Show 
a0001c0003t0001g0094
a0001c0003t0001g0101
a0001c0003t0001g0103
a0001c0003t0001g0110
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
a0009c0012t0007g0136
 19 HG00642.hp1
HG01167.hp1
HG01167.hp2
others(16): Show 
HG00642.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp2
HG01257.hp2
HG01346.hp1
HG01952.hp2
HG02486.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03130.hp1
HG03195.hp2
HG03654.hp1
HG03834.hp2
HG04199.hp1
NA18522.hp1
NA20129.hp2
 intron_variant MODIFIER c.2545-895dupA
c.2545-895dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357740
chr1:51357740 C
C
 CTT
CTT
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2545-896_2545-895d
others(4): Show 
c.2545-896_2545-895dupAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357740
chr1:51357981 C
C
 T
T
 4 a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
others(1): Show 
a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
 4 HG00639.hp2
HG02647.hp1
HG02818.hp2
others(1): Show 
HG00639.hp2
HG02647.hp1
HG02818.hp2
HG03471.hp1
 intron_variant MODIFIER c.2545-1135G>A
c.2545-1135G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51357981
chr1:51358004 C
C
 T
T
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.2545-1158G>A
c.2545-1158G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51358004
chr1:51358242 G
G
 T
T
 1 a0001c0003t0001g0081
a0001c0003t0001g0081
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.2545-1396C>A
c.2545-1396C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51358242
chr1:51358433 A
A
 G
G
 3 a0002c0001t0005g0142
a0002c0001t0005g0148
a0008c0011t0025g0140
a0002c0001t0005g0142
a0002c0001t0005g0148
a0008c0011t0025g0140
 3 HG02257.hp2
HG02486.hp1
NA20300.hp1
HG02257.hp2
HG02486.hp1
NA20300.hp1
 intron_variant MODIFIER c.2545-1587T>C
c.2545-1587T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51358433
chr1:51358485 G
G
 T
T
 4 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(1): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0005c0008t0002g0033
 4 HG02630.hp2
HG02717.hp1
HG02976.hp1
others(1): Show 
HG02630.hp2
HG02717.hp1
HG02976.hp1
NA19240.hp1
 intron_variant MODIFIER c.2545-1639C>A
c.2545-1639C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51358485
chr1:51358699 G
G
 GTTTTTTT
others(4): Show 
GTTTTTTTTTTT
 1 a0002c0001t0011g0130
a0002c0001t0011g0130
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.2545-1854_2545-185
others(15): Show 
c.2545-1854_2545-1853insAAAAAAAAAAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51358699
chr1:51358704 T
T
 G
G
 1 a0001c0002t0018g0105
a0001c0002t0018g0105
 1 NA18957.hp2
NA18957.hp2
 intron_variant MODIFIER c.2545-1858A>C
c.2545-1858A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51358704
chr1:51358709 G
G
 GT
GT
 13 a0001c0002t0001g0052
a0001c0002t0002g0030
a0001c0002t0002g0031
others(10): Show 
a0001c0002t0001g0052
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0013g0065
a0001c0003t0001g0066
a0001c0003t0001g0081
a0001c0003t0003g0054
a0002c0001t0005g0139
a0002c0001t0005g0142
a0002c0001t0005g0148
a0002c0001t0012g0002
a0002c0001t0024g0145
a0008c0011t0025g0140
 13 HG00741.hp1
HG01175.hp1
HG01952.hp1
others(10): Show 
HG00741.hp1
HG01175.hp1
HG01952.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02486.hp1
HG02630.hp2
HG03209.hp1
HG03453.hp1
NA19043.hp2
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.2545-1864dupA
c.2545-1864dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51358709
chr1:51358709 G
G
 GTT
GTT
 9 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(6): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
 9 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(6): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2545-1865_2545-186
others(6): Show 
c.2545-1865_2545-1864dupAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51358709
chr1:51358709 G
G
 T
T
 6 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(3): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0004t0002g0008
a0004c0015t0011g0152
a0006c0010t0026g0129
 6 HG01109.hp2
HG02559.hp2
HG02723.hp2
others(3): Show 
HG01109.hp2
HG02559.hp2
HG02723.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2545-1863C>A
c.2545-1863C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51358709
chr1:51358711 T
T
 C
C
 1 a0001c0002t0001g0078
a0001c0002t0001g0078
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.2545-1865A>G
c.2545-1865A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51358711
chr1:51358727 G
G
 T
T
 1 a0001c0003t0001g0102
a0001c0003t0001g0102
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.2545-1881C>A
c.2545-1881C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51358727
chr1:51358802 G
G
 A
A
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2545-1956C>T
c.2545-1956C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51358802
chr1:51358992 C
C
 A
A
 1 a0002c0004t0002g0006
a0002c0004t0002g0006
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.2545-2146G>T
c.2545-2146G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51358992
chr1:51359443 T
T
 TAAA
TAAA
 5 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(2): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0006c0010t0026g0129
a0009c0012t0007g0136
 5 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(2): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.2544+1725_2544+172
others(7): Show 
c.2544+1725_2544+1727dupTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51359443
chr1:51359623 G
G
 A
A
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.2544+1548C>T
c.2544+1548C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51359623
chr1:51359626 G
G
 A
A
 1 a0001c0002t0017g0032
a0001c0002t0017g0032
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.2544+1545C>T
c.2544+1545C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51359626
chr1:51359713 G
G
 T
T
 2 a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0001t0023g0151
a0002c0001t0024g0145
 2 HG01175.hp1
HG02258.hp2
HG01175.hp1
HG02258.hp2
 intron_variant MODIFIER c.2544+1458C>A
c.2544+1458C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51359713
chr1:51359714 C
C
 T
T
 20 a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0068
others(17): Show 
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0068
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
a0001c0003t0001g0102
a0001c0003t0001g0103
a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0003t0001g0109
a0001c0003t0001g0110
a0001c0006t0001g0104
a0001c0006t0001g0112
 20 HG00733.hp1
HG00738.hp2
HG00741.hp1
others(17): Show 
HG00733.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01167.hp1
HG01168.hp1
HG01192.hp2
HG01261.hp1
HG01346.hp2
HG01515.hp1
HG01516.hp2
HG01952.hp2
HG02615.hp2
HG02735.hp1
HG03540.hp2
HG03834.hp1
HG03834.hp2
HG04115.hp1
HG04204.hp2
 intron_variant MODIFIER c.2544+1457G>A
c.2544+1457G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51359714
chr1:51359750 C
C
 CA
CA
 5 a0001c0002t0001g0127
a0002c0001t0012g0001
a0002c0001t0012g0002
others(2): Show 
a0001c0002t0001g0127
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0007c0009t0015g0125
 5 HG00438.hp1
HG02257.hp1
HG03139.hp2
others(2): Show 
HG00438.hp1
HG02257.hp1
HG03139.hp2
HG03486.hp1
NA19043.hp2
 intron_variant MODIFIER c.2544+1420dupT
c.2544+1420dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51359750
chr1:51359783 C
C
 T
T
 3 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
 3 HG02572.hp1
HG03041.hp1
NA18522.hp2
HG02572.hp1
HG03041.hp1
NA18522.hp2
 intron_variant MODIFIER c.2544+1388G>A
c.2544+1388G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51359783
chr1:51360265 G
G
 A
A
 3 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
 3 HG02572.hp1
HG03041.hp1
NA18522.hp2
HG02572.hp1
HG03041.hp1
NA18522.hp2
 intron_variant MODIFIER c.2544+906C>T
c.2544+906C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51360265
chr1:51360283 T
T
 C
C
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2544+888A>G
c.2544+888A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51360283
chr1:51360371 T
T
 A
A
 23 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(20): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
a0007c0009t0015g0125
 23 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(20): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02257.hp1
HG02486.hp2
HG02572.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03195.hp2
HG03486.hp1
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.2544+800A>T
c.2544+800A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51360371
chr1:51360497 T
T
 A
A
 2 a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0014g0036
a0002c0001t0014g0037
 2 HG02451.hp2
HG02976.hp2
HG02451.hp2
HG02976.hp2
 intron_variant MODIFIER c.2544+674A>T
c.2544+674A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51360497
chr1:51360499 T
T
 A
A
 2 a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0014g0036
a0002c0001t0014g0037
 2 HG02451.hp2
HG02976.hp2
HG02451.hp2
HG02976.hp2
 intron_variant MODIFIER c.2544+672A>T
c.2544+672A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51360499
chr1:51360505 A
A
 C
C
 9 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(6): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
 9 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(6): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2544+666T>G
c.2544+666T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51360505
chr1:51360506 C
C
 T
T
 2 a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0014g0036
a0002c0001t0014g0037
 2 HG02451.hp2
HG02976.hp2
HG02451.hp2
HG02976.hp2
 intron_variant MODIFIER c.2544+665G>A
c.2544+665G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51360506
chr1:51360538 C
C
 T
T
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.2544+633G>A
c.2544+633G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51360538
chr1:51360570 G
G
 A
A
 75 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(72): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 75 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(72): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2544+601C>T
c.2544+601C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51360570
chr1:51360712 C
C
 CATAT
CATAT
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2544+455_2544+458d
others(6): Show 
c.2544+455_2544+458dupATAT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51360712
chr1:51360759 CACAA
CACAA
 C
C
 2 a0002c0001t0012g0001
a0002c0001t0012g0003
a0002c0001t0012g0001
a0002c0001t0012g0003
 2 HG02257.hp1
HG03139.hp2
HG02257.hp1
HG03139.hp2
 intron_variant MODIFIER c.2544+408_2544+411d
others(6): Show 
c.2544+408_2544+411delTTGT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51360759
chr1:51360947 G
G
 C
C
 3 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
 3 HG02572.hp1
HG03041.hp1
NA18522.hp2
HG02572.hp1
HG03041.hp1
NA18522.hp2
 intron_variant MODIFIER c.2544+224C>G
c.2544+224C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51360947
chr1:51361070 G
G
 C
C
 12 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(9): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 12 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(9): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
NA18522.hp1
 intron_variant MODIFIER c.2544+101C>G
c.2544+101C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 24/24 chr1 51361070
chr1:51361551 T
T
 C
C
 12 a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0093
others(9): Show 
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0006t0001g0104
a0001c0006t0001g0112
 12 HG00738.hp2
HG00741.hp1
HG01074.hp2
others(9): Show 
HG00738.hp2
HG00741.hp1
HG01074.hp2
HG01192.hp2
HG01346.hp2
HG01515.hp1
HG01516.hp2
HG02615.hp2
HG02735.hp1
HG03540.hp2
HG04115.hp1
HG04204.hp2
 intron_variant MODIFIER c.2360-196A>G
c.2360-196A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 23/24 chr1 51361551
chr1:51361554 C
C
 T
T
 1 a0007c0009t0015g0125
a0007c0009t0015g0125
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.2360-199G>A
c.2360-199G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 23/24 chr1 51361554
chr1:51361733 C
C
 A
A
 1 a0002c0004t0002g0009
a0002c0004t0002g0009
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.2360-378G>T
c.2360-378G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 23/24 chr1 51361733
chr1:51361992 A
A
 T
T
 1 a0010c0013t0001g0063
a0010c0013t0001g0063
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.2360-637T>A
c.2360-637T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 23/24 chr1 51361992
chr1:51362082 G
G
 GAAAAGAT
others(322): Show 
GAAAAGATAATAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC
TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC
CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC
CGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC
AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG
CACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA
AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0003t0001g0099
a0001c0003t0001g0099
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.2360-728_2360-727i
others(331): Show 
c.2360-728_2360-727insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG
TGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC
CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCC
CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCC
AGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA
AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATTATCTTT
T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 23/24 chr1 51362082
chr1:51362285 A
A
 T
T
 1 a0001c0002t0001g0086
a0001c0002t0001g0086
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.2360-930T>A
c.2360-930T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 23/24 chr1 51362285
chr1:51362307 A
A
 C
C
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.2360-952T>G
c.2360-952T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 23/24 chr1 51362307
chr1:51362331 T
T
 A
A
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.2360-976A>T
c.2360-976A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 23/24 chr1 51362331
chr1:51362456 A
A
 G
G
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2360-1101T>C
c.2360-1101T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 23/24 chr1 51362456
chr1:51362534 G
G
 A
A
 1 a0007c0009t0015g0125
a0007c0009t0015g0125
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.2360-1179C>T
c.2360-1179C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 23/24 chr1 51362534
chr1:51362565 T
T
 C
C
 1 a0007c0009t0015g0125
a0007c0009t0015g0125
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.2360-1210A>G
c.2360-1210A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 23/24 chr1 51362565
chr1:51362652 A
A
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2359+1214T>G
c.2359+1214T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 23/24 chr1 51362652
chr1:51362662 G
G
 A
A
 1 a0001c0003t0001g0090
a0001c0003t0001g0090
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.2359+1204C>T
c.2359+1204C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 23/24 chr1 51362662
chr1:51362813 A
A
 T
T
 1 a0005c0008t0002g0033
a0005c0008t0002g0033
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.2359+1053T>A
c.2359+1053T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 23/24 chr1 51362813
chr1:51362826 G
G
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2359+1040C>A
c.2359+1040C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 23/24 chr1 51362826
chr1:51362827 T
T
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2359+1039A>G
c.2359+1039A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 23/24 chr1 51362827
chr1:51363133 G
G
 A
A
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.2359+733C>T
c.2359+733C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 23/24 chr1 51363133
chr1:51363253 A
A
 G
G
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2359+613T>C
c.2359+613T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 23/24 chr1 51363253
chr1:51363297 C
C
 CA
CA
 19 a0001c0002t0001g0082
a0001c0002t0003g0077
a0001c0003t0001g0068
others(16): Show 
a0001c0002t0001g0082
a0001c0002t0003g0077
a0001c0003t0001g0068
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0012g0002
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0137
a0002c0007t0010g0043
a0004c0015t0011g0152
a0006c0010t0026g0129
a0007c0009t0015g0125
 19 HG01109.hp2
HG01346.hp1
HG01891.hp1
others(16): Show 
HG01109.hp2
HG01346.hp1
HG01891.hp1
HG02109.hp2
HG02559.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp2
HG03540.hp1
HG03654.hp1
HG03834.hp1
HG04199.hp1
HG06807.hp2
NA19043.hp1
NA19043.hp2
 intron_variant MODIFIER c.2359+568dupT
c.2359+568dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 23/24 chr1 51363297
chr1:51363297 C
C
 CAA
CAA
 6 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(3): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0010g0041
a0002c0001t0010g0042
 6 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(3): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
HG02717.hp2
HG03209.hp2
NA20805.hp2
 intron_variant MODIFIER c.2359+567_2359+568d
others(4): Show 
c.2359+567_2359+568dupTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 23/24 chr1 51363297
chr1:51363297 CA
CA
 C
C
 16 a0001c0003t0001g0110
a0002c0001t0004g0018
a0002c0001t0004g0019
others(13): Show 
a0001c0003t0001g0110
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0014t0002g0010
 16 HG00733.hp2
HG00735.hp1
HG01167.hp1
others(13): Show 
HG00733.hp2
HG00735.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02486.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG03195.hp2
NA18522.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2359+568delT
c.2359+568delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 23/24 chr1 51363297
chr1:51363609 T
T
 G
G
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.2359+257A>C
c.2359+257A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 23/24 chr1 51363609
chr1:51364073 T
T
 C
C
 1 a0002c0004t0002g0013
a0002c0004t0002g0013
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.2197-45A>G
c.2197-45A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 22/24 chr1 51364073
chr1:51364151 A
A
 C
C
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.2197-123T>G
c.2197-123T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 22/24 chr1 51364151
chr1:51364217 G
G
 A
A
 1 a0002c0001t0010g0044
a0002c0001t0010g0044
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.2197-189C>T
c.2197-189C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 22/24 chr1 51364217
chr1:51364230 A
A
 G
G
 1 a0002c0001t0004g0040
a0002c0001t0004g0040
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.2197-202T>C
c.2197-202T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 22/24 chr1 51364230
chr1:51364500 A
A
 AT
AT
 60 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(57): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0005c0008t0002g0033
a0008c0011t0025g0140
 60 HG00733.hp2
HG00735.hp1
HG00735.hp2
others(57): Show 
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG01109.hp1
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2197-473dupA
c.2197-473dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 22/24 chr1 51364500
chr1:51364500 A
A
 ATT
ATT
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2197-474_2197-473d
others(4): Show 
c.2197-474_2197-473dupAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 22/24 chr1 51364500
chr1:51364744 C
C
 T
T
 4 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(1): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0005c0008t0002g0033
 4 HG02630.hp2
HG02717.hp1
HG02976.hp1
others(1): Show 
HG02630.hp2
HG02717.hp1
HG02976.hp1
NA19240.hp1
 intron_variant MODIFIER c.2197-716G>A
c.2197-716G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 22/24 chr1 51364744
chr1:51364842 A
A
 AT
AT
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.2197-815dupA
c.2197-815dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 22/24 chr1 51364842
chr1:51365008 T
T
 C
C
 1 a0001c0002t0003g0070
a0001c0002t0003g0070
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.2196+945A>G
c.2196+945A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 22/24 chr1 51365008
chr1:51365121 C
C
 T
T
 7 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
others(4): Show 
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 7 HG02109.hp2
HG02630.hp1
HG02717.hp2
others(4): Show 
HG02109.hp2
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG03209.hp2
HG03453.hp2
NA19240.hp2
 intron_variant MODIFIER c.2196+832G>A
c.2196+832G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 22/24 chr1 51365121
chr1:51365158 G
G
 C
C
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.2196+795C>G
c.2196+795C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 22/24 chr1 51365158
chr1:51365244 A
A
 G
G
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2196+709T>C
c.2196+709T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 22/24 chr1 51365244
chr1:51365267 G
G
 A
A
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2196+686C>T
c.2196+686C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 22/24 chr1 51365267
chr1:51365283 G
G
 C
C
 2 a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0118
a0002c0001t0009g0119
 2 HG03491.hp1
HG03492.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.2196+670C>G
c.2196+670C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 22/24 chr1 51365283
chr1:51365478 A
A
 G
G
 3 a0002c0001t0005g0142
a0002c0001t0005g0148
a0008c0011t0025g0140
a0002c0001t0005g0142
a0002c0001t0005g0148
a0008c0011t0025g0140
 3 HG02257.hp2
HG02486.hp1
NA20300.hp1
HG02257.hp2
HG02486.hp1
NA20300.hp1
 intron_variant MODIFIER c.2196+475T>C
c.2196+475T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 22/24 chr1 51365478
chr1:51365499 G
G
 A
A
 9 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(6): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0007c0009t0015g0125
 9 HG02257.hp1
HG02572.hp1
HG03041.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.2196+454C>T
c.2196+454C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 22/24 chr1 51365499
chr1:51365600 C
C
 T
T
 5 a0002c0001t0004g0040
a0002c0001t0010g0041
a0002c0001t0010g0042
others(2): Show 
a0002c0001t0004g0040
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 5 HG02109.hp2
HG02717.hp2
HG02818.hp1
others(2): Show 
HG02109.hp2
HG02717.hp2
HG02818.hp1
HG03209.hp2
HG03453.hp2
 intron_variant MODIFIER c.2196+353G>A
c.2196+353G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 22/24 chr1 51365600
chr1:51365611 C
C
 A
A
 9 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(6): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
 9 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(6): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2196+342G>T
c.2196+342G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 22/24 chr1 51365611
chr1:51365648 G
G
 C
C
 1 a0002c0004t0002g0013
a0002c0004t0002g0013
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.2196+305C>G
c.2196+305C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 22/24 chr1 51365648
chr1:51365791 TTAAC
TTAAC
 T
T
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.2196+158_2196+161d
others(6): Show 
c.2196+158_2196+161delGTTA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 22/24 chr1 51365791
chr1:51365798 T
T
 C
C
 1 a0001c0002t0003g0077
a0001c0002t0003g0077
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.2196+155A>G
c.2196+155A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 22/24 chr1 51365798
chr1:51365898 T
T
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2196+55A>G
c.2196+55A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 22/24 chr1 51365898
chr1:51366063 C
C
 T
T
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2120-34G>A
c.2120-34G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51366063
chr1:51366089 C
C
 CA
CA
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2120-61dupT
c.2120-61dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51366089
chr1:51366340 T
T
 C
C
 1 a0002c0001t0023g0151
a0002c0001t0023g0151
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.2120-311A>G
c.2120-311A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51366340
chr1:51366466 A
A
 C
C
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.2120-437T>G
c.2120-437T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51366466
chr1:51366816 A
A
 AT
AT
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.2120-788dupA
c.2120-788dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51366816
chr1:51366833 G
G
 A
A
 1 a0002c0001t0004g0040
a0002c0001t0004g0040
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.2120-804C>T
c.2120-804C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51366833
chr1:51366965 T
T
 A
A
 1 a0002c0004t0002g0137
a0002c0004t0002g0137
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.2120-936A>T
c.2120-936A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51366965
chr1:51367030 A
A
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2120-1001T>A
c.2120-1001T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51367030
chr1:51367122 T
T
 C
C
 1 a0002c0001t0004g0040
a0002c0001t0004g0040
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.2120-1093A>G
c.2120-1093A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51367122
chr1:51367270 G
G
 C
C
 2 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0002g0030
a0001c0002t0002g0031
 2 HG02630.hp2
NA19240.hp1
HG02630.hp2
NA19240.hp1
 intron_variant MODIFIER c.2120-1241C>G
c.2120-1241C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51367270
chr1:51367271 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2120-1242C>T
c.2120-1242C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51367271
chr1:51367448 G
G
 A
A
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.2120-1419C>T
c.2120-1419C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51367448
chr1:51367551 CAACA
CAACA
 C
C
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2120-1526_2120-152
others(8): Show 
c.2120-1526_2120-1523delTGTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51367551
chr1:51367843 C
C
 A
A
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2120-1814G>T
c.2120-1814G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51367843
chr1:51367882 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2120-1853C>T
c.2120-1853C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51367882
chr1:51367890 G
G
 T
T
 1 a0001c0002t0003g0074
a0001c0002t0003g0074
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.2120-1861C>A
c.2120-1861C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51367890
chr1:51367949 C
C
 T
T
 1 a0001c0002t0001g0083
a0001c0002t0001g0083
 1 NA19011.hp1
NA19011.hp1
 intron_variant MODIFIER c.2120-1920G>A
c.2120-1920G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51367949
chr1:51367950 G
G
 A
A
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.2120-1921C>T
c.2120-1921C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51367950
chr1:51368375 A
A
 G
G
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2120-2346T>C
c.2120-2346T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51368375
chr1:51368484 C
C
 T
T
 1 a0002c0001t0005g0139
a0002c0001t0005g0139
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.2120-2455G>A
c.2120-2455G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51368484
chr1:51368593 TGTTTC
TGTTTC
 T
T
 9 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(6): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0007c0009t0015g0125
 9 HG02257.hp1
HG02572.hp1
HG03041.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.2120-2569_2120-256
others(9): Show 
c.2120-2569_2120-2565delGAAAC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51368593
chr1:51368598 C
C
 CT
CT
 10 a0001c0002t0001g0052
a0001c0003t0003g0054
a0002c0001t0005g0138
others(7): Show 
a0001c0002t0001g0052
a0001c0003t0003g0054
a0002c0001t0005g0138
a0002c0001t0005g0141
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
 10 HG01109.hp1
HG01884.hp2
HG01891.hp2
others(7): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp2
HG02145.hp1
HG02145.hp2
HG02615.hp1
HG03139.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.2120-2570dupA
c.2120-2570dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51368598
chr1:51368598 CTT
CTT
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2120-2571_2120-257
others(6): Show 
c.2120-2571_2120-2570delAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51368598
chr1:51368599 T
T
 C
C
 9 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(6): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0007c0009t0015g0125
 9 HG02257.hp1
HG02572.hp1
HG03041.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.2120-2570A>G
c.2120-2570A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51368599
chr1:51368849 G
G
 A
A
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.2120-2820C>T
c.2120-2820C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51368849
chr1:51368954 T
T
 TC
TC
 3 a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
 3 HG02257.hp1
HG03139.hp2
NA19043.hp2
HG02257.hp1
HG03139.hp2
NA19043.hp2
 intron_variant MODIFIER c.2120-2926dupG
c.2120-2926dupG
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51368954
chr1:51369023 C
C
 CCTTTTCT
others(4): Show 
CCTTTTCTCTGT
 9 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(6): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
 9 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(6): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2120-3005_2120-299
others(15): Show 
c.2120-3005_2120-2995dupACAGAGAAAAG
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51369023
chr1:51369096 G
G
 C
C
 1 a0002c0004t0002g0137
a0002c0004t0002g0137
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.2120-3067C>G
c.2120-3067C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51369096
chr1:51369396 T
T
 C
C
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2120-3367A>G
c.2120-3367A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51369396
chr1:51369470 C
C
 G
G
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.2120-3441G>C
c.2120-3441G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51369470
chr1:51369479 T
T
 C
C
 7 a0002c0001t0005g0139
a0002c0001t0005g0142
a0002c0001t0005g0146
others(4): Show 
a0002c0001t0005g0139
a0002c0001t0005g0142
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 7 HG01175.hp1
HG02055.hp2
HG02257.hp2
others(4): Show 
HG01175.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG03209.hp1
NA20300.hp1
 intron_variant MODIFIER c.2120-3450A>G
c.2120-3450A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51369479
chr1:51369537 T
T
 C
C
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.2120-3508A>G
c.2120-3508A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51369537
chr1:51369544 A
A
 C
C
 5 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(2): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0016g0027
 5 HG02572.hp1
HG03041.hp1
HG03098.hp1
others(2): Show 
HG02572.hp1
HG03041.hp1
HG03098.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.2120-3515T>G
c.2120-3515T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51369544
chr1:51369562 A
A
 G
G
 8 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(5): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0124
 8 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(5): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2120-3533T>C
c.2120-3533T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51369562
chr1:51369589 C
C
 T
T
 2 a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0014g0036
a0002c0001t0014g0037
 2 HG02451.hp2
HG02976.hp2
HG02451.hp2
HG02976.hp2
 intron_variant MODIFIER c.2120-3560G>A
c.2120-3560G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51369589
chr1:51369635 G
G
 T
T
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.2120-3606C>A
c.2120-3606C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51369635
chr1:51369799 C
C
 A
A
 3 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
 3 HG02572.hp1
HG03041.hp1
NA18522.hp2
HG02572.hp1
HG03041.hp1
NA18522.hp2
 intron_variant MODIFIER c.2120-3770G>T
c.2120-3770G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51369799
chr1:51369813 A
A
 G
G
 9 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(6): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0007c0009t0015g0125
 9 HG02257.hp1
HG02572.hp1
HG03041.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.2120-3784T>C
c.2120-3784T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51369813
chr1:51369820 C
C
 T
T
 3 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
 3 HG00642.hp1
HG01257.hp2
NA20129.hp2
HG00642.hp1
HG01257.hp2
NA20129.hp2
 intron_variant MODIFIER c.2120-3791G>A
c.2120-3791G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51369820
chr1:51370206 GT
GT
 G
G
 3 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
 3 HG02572.hp1
HG03041.hp1
NA18522.hp2
HG02572.hp1
HG03041.hp1
NA18522.hp2
 intron_variant MODIFIER c.2120-4178delA
c.2120-4178delA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51370206
chr1:51370209 T
T
 C
C
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2120-4180A>G
c.2120-4180A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51370209
chr1:51370246 C
C
 T
T
 1 a0001c0003t0001g0099
a0001c0003t0001g0099
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.2120-4217G>A
c.2120-4217G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51370246
chr1:51370449 T
T
 C
C
 1 a0007c0009t0015g0125
a0007c0009t0015g0125
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.2120-4420A>G
c.2120-4420A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51370449
chr1:51370488 C
C
 T
T
 1 a0001c0003t0001g0089
a0001c0003t0001g0089
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.2120-4459G>A
c.2120-4459G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51370488
chr1:51370624 G
G
 GT
GT
 5 a0001c0002t0001g0091
a0002c0001t0005g0141
a0002c0001t0005g0143
others(2): Show 
a0001c0002t0001g0091
a0002c0001t0005g0141
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0009g0117
 5 HG00735.hp2
HG01109.hp1
HG02615.hp1
others(2): Show 
HG00735.hp2
HG01109.hp1
HG02615.hp1
HG03139.hp1
HG04228.hp2
 intron_variant MODIFIER c.2120-4596dupA
c.2120-4596dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51370624
chr1:51370670 G
G
 A
A
 2 a0001c0003t0001g0100
a0001c0003t0001g0109
a0001c0003t0001g0100
a0001c0003t0001g0109
 2 HG01074.hp1
HG01168.hp1
HG01074.hp1
HG01168.hp1
 intron_variant MODIFIER c.2120-4641C>T
c.2120-4641C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51370670
chr1:51370678 T
T
 C
C
 1 a0002c0001t0005g0148
a0002c0001t0005g0148
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.2120-4649A>G
c.2120-4649A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51370678
chr1:51370809 T
T
 C
C
 151 a0001c0002t0001g0026
a0001c0002t0001g0045
a0001c0002t0001g0046
others(148): Show 
a0001c0002t0001g0026
a0001c0002t0001g0045
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0051
a0001c0002t0001g0052
a0001c0002t0001g0056
a0001c0002t0001g0064
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0111
a0001c0002t0001g0113
a0001c0002t0001g0114
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0003g0049
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0003g0061
a0001c0002t0003g0069
a0001c0002t0003g0070
a0001c0002t0003g0074
a0001c0002t0003g0075
a0001c0002t0003g0076
a0001c0002t0003g0077
a0001c0002t0003g0106
a0001c0002t0013g0062
a0001c0002t0013g0065
a0001c0002t0017g0032
a0001c0002t0018g0105
a0001c0002t0019g0055
a0001c0002t0020g0050
a0001c0003t0001g0053
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0068
a0001c0003t0001g0081
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
a0001c0003t0001g0102
a0001c0003t0001g0103
a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0003t0001g0109
a0001c0003t0001g0110
a0001c0003t0003g0054
a0001c0006t0001g0104
a0001c0006t0001g0112
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0003c0005t0001g0017
a0003c0005t0001g0057
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
a0010c0013t0001g0063
 151 HG00438.hp1
HG00438.hp2
HG00558.hp1
others(148): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03834.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18957.hp1
NA18957.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2120-4780A>G
c.2120-4780A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51370809
chr1:51370838 C
C
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2120-4809G>A
c.2120-4809G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51370838
chr1:51370926 G
G
 T
T
 4 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(1): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
 4 HG02559.hp2
HG03195.hp1
HG03471.hp2
others(1): Show 
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2120-4897C>A
c.2120-4897C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51370926
chr1:51370971 G
G
 T
T
 1 a0002c0001t0007g0135
a0002c0001t0007g0135
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.2120-4942C>A
c.2120-4942C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51370971
chr1:51370974 C
C
 T
T
 5 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(2): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0016g0027
 5 HG02572.hp1
HG03041.hp1
HG03098.hp1
others(2): Show 
HG02572.hp1
HG03041.hp1
HG03098.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.2120-4945G>A
c.2120-4945G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51370974
chr1:51370975 G
G
 A
A
 1 a0007c0009t0015g0125
a0007c0009t0015g0125
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.2120-4946C>T
c.2120-4946C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51370975
chr1:51371039 C
C
 T
T
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.2120-5010G>A
c.2120-5010G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51371039
chr1:51371040 G
G
 A
A
 1 a0009c0012t0007g0136
a0009c0012t0007g0136
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.2120-5011C>T
c.2120-5011C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51371040
chr1:51371170 C
C
 T
T
 9 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(6): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
 9 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(6): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2120-5141G>A
c.2120-5141G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51371170
chr1:51371243 A
A
 T
T
 71 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(68): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 71 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(68): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2120-5214T>A
c.2120-5214T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51371243
chr1:51371296 A
A
 G
G
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2120-5267T>C
c.2120-5267T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51371296
chr1:51371399 T
T
 C
C
 2 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0018
a0002c0001t0004g0019
 2 HG00735.hp1
HG01192.hp1
HG00735.hp1
HG01192.hp1
 intron_variant MODIFIER c.2120-5370A>G
c.2120-5370A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51371399
chr1:51371511 T
T
 TA
TA
 6 a0001c0002t0017g0032
a0002c0001t0004g0040
a0002c0001t0010g0041
others(3): Show 
a0001c0002t0017g0032
a0002c0001t0004g0040
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 6 HG02109.hp2
HG02717.hp1
HG02717.hp2
others(3): Show 
HG02109.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG03209.hp2
HG03453.hp2
 intron_variant MODIFIER c.2120-5483dupT
c.2120-5483dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51371511
chr1:51371523 G
G
 GA
GA
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2120-5495dupT
c.2120-5495dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51371523
chr1:51371523 GA
GA
 G
G
 18 a0001c0002t0001g0026
a0001c0002t0001g0051
a0001c0002t0001g0056
others(15): Show 
a0001c0002t0001g0026
a0001c0002t0001g0051
a0001c0002t0001g0056
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0088
a0001c0002t0001g0091
a0001c0002t0001g0111
a0001c0002t0013g0062
a0001c0002t0013g0065
a0001c0002t0019g0055
a0001c0002t0020g0050
a0002c0004t0002g0006
a0007c0009t0015g0125
 18 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(15): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01261.hp2
HG01891.hp1
HG01952.hp1
HG02738.hp1
HG03486.hp1
HG03492.hp1
HG03688.hp2
HG04115.hp2
HG04199.hp2
HG04228.hp2
NA19011.hp1
NA20752.hp1
 intron_variant MODIFIER c.2120-5495delT
c.2120-5495delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51371523
chr1:51371638 T
T
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2120-5609A>T
c.2120-5609A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51371638
chr1:51371751 T
T
 C
C
 1 a0001c0002t0001g0128
a0001c0002t0001g0128
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.2120-5722A>G
c.2120-5722A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51371751
chr1:51371909 T
T
 C
C
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2120-5880A>G
c.2120-5880A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51371909
chr1:51371918 A
A
 G
G
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.2120-5889T>C
c.2120-5889T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51371918
chr1:51371960 A
A
 T
T
 1 a0002c0001t0022g0115
a0002c0001t0022g0115
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.2120-5931T>A
c.2120-5931T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51371960
chr1:51371979 T
T
 C
C
 7 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
others(4): Show 
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 7 HG02109.hp2
HG02630.hp1
HG02717.hp2
others(4): Show 
HG02109.hp2
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG03209.hp2
HG03453.hp2
NA19240.hp2
 intron_variant MODIFIER c.2120-5950A>G
c.2120-5950A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51371979
chr1:51372025 A
A
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2120-5996T>G
c.2120-5996T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51372025
chr1:51372065 C
C
 T
T
 77 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(74): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 77 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(74): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2120-6036G>A
c.2120-6036G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51372065
chr1:51372385 G
G
 T
T
 1 a0001c0002t0003g0077
a0001c0002t0003g0077
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.2120-6356C>A
c.2120-6356C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51372385
chr1:51372390 T
T
 C
C
 1 a0001c0002t0001g0114
a0001c0002t0001g0114
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.2120-6361A>G
c.2120-6361A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51372390
chr1:51372660 A
A
 G
G
 1 a0002c0001t0004g0040
a0002c0001t0004g0040
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.2120-6631T>C
c.2120-6631T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51372660
chr1:51372750 G
G
 C
C
 1 a0002c0001t0004g0040
a0002c0001t0004g0040
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.2120-6721C>G
c.2120-6721C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51372750
chr1:51372834 A
A
 G
G
 1 a0007c0009t0015g0125
a0007c0009t0015g0125
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.2120-6805T>C
c.2120-6805T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51372834
chr1:51373005 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2120-6976C>T
c.2120-6976C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51373005
chr1:51373047 G
G
 A
A
 8 a0001c0002t0001g0064
a0001c0002t0001g0078
a0001c0002t0001g0082
others(5): Show 
a0001c0002t0001g0064
a0001c0002t0001g0078
a0001c0002t0001g0082
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0114
a0003c0005t0001g0017
a0003c0005t0001g0057
 8 HG01175.hp2
HG01257.hp1
HG03491.hp2
others(5): Show 
HG01175.hp2
HG01257.hp1
HG03491.hp2
HG03654.hp2
HG03688.hp1
HG04204.hp1
HG04228.hp1
NA20752.hp2
 intron_variant MODIFIER c.2120-7018C>T
c.2120-7018C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51373047
chr1:51373245 AT
AT
 A
A
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.2120-7217delA
c.2120-7217delA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51373245
chr1:51373573 C
C
 T
T
 1 a0001c0002t0001g0078
a0001c0002t0001g0078
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.2120-7544G>A
c.2120-7544G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51373573
chr1:51373785 T
T
 A
A
 9 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(6): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
 9 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(6): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2120-7756A>T
c.2120-7756A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51373785
chr1:51373786 A
A
 G
G
 2 a0002c0001t0012g0001
a0002c0001t0012g0003
a0002c0001t0012g0001
a0002c0001t0012g0003
 2 HG02257.hp1
HG03139.hp2
HG02257.hp1
HG03139.hp2
 intron_variant MODIFIER c.2120-7757T>C
c.2120-7757T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51373786
chr1:51374219 T
T
 C
C
 1 a0001c0003t0001g0068
a0001c0003t0001g0068
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.2120-8190A>G
c.2120-8190A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51374219
chr1:51374232 G
G
 C
C
 1 a0001c0003t0001g0068
a0001c0003t0001g0068
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.2120-8203C>G
c.2120-8203C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51374232
chr1:51374465 G
G
 A
A
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2120-8436C>T
c.2120-8436C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51374465
chr1:51374517 T
T
 C
C
 1 a0001c0002t0001g0056
a0001c0002t0001g0056
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.2120-8488A>G
c.2120-8488A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51374517
chr1:51374561 G
G
 A
A
 1 a0002c0001t0004g0022
a0002c0001t0004g0022
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.2120-8532C>T
c.2120-8532C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51374561
chr1:51374562 C
C
 A
A
 1 a0002c0001t0005g0146
a0002c0001t0005g0146
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.2120-8533G>T
c.2120-8533G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51374562
chr1:51374565 T
T
 C
C
 5 a0002c0001t0004g0040
a0002c0001t0010g0041
a0002c0001t0010g0042
others(2): Show 
a0002c0001t0004g0040
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 5 HG02109.hp2
HG02717.hp2
HG02818.hp1
others(2): Show 
HG02109.hp2
HG02717.hp2
HG02818.hp1
HG03209.hp2
HG03453.hp2
 intron_variant MODIFIER c.2120-8536A>G
c.2120-8536A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51374565
chr1:51374773 T
T
 C
C
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.2120-8744A>G
c.2120-8744A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51374773
chr1:51374775 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2120-8746C>T
c.2120-8746C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51374775
chr1:51374782 C
C
 T
T
 4 a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0014g0036
others(1): Show 
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0014g0036
a0002c0001t0014g0037
 4 HG02451.hp2
HG02976.hp2
HG03098.hp1
others(1): Show 
HG02451.hp2
HG02976.hp2
HG03098.hp1
NA18906.hp2
 intron_variant MODIFIER c.2120-8753G>A
c.2120-8753G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51374782
chr1:51374788 A
A
 C
C
 1 a0002c0001t0005g0148
a0002c0001t0005g0148
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.2120-8759T>G
c.2120-8759T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51374788
chr1:51374795 T
T
 C
C
 151 a0001c0002t0001g0026
a0001c0002t0001g0045
a0001c0002t0001g0046
others(148): Show 
a0001c0002t0001g0026
a0001c0002t0001g0045
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0051
a0001c0002t0001g0052
a0001c0002t0001g0056
a0001c0002t0001g0064
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0111
a0001c0002t0001g0113
a0001c0002t0001g0114
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0003g0049
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0003g0061
a0001c0002t0003g0069
a0001c0002t0003g0070
a0001c0002t0003g0074
a0001c0002t0003g0075
a0001c0002t0003g0076
a0001c0002t0003g0077
a0001c0002t0003g0106
a0001c0002t0013g0062
a0001c0002t0013g0065
a0001c0002t0017g0032
a0001c0002t0018g0105
a0001c0002t0019g0055
a0001c0002t0020g0050
a0001c0003t0001g0053
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0068
a0001c0003t0001g0081
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
a0001c0003t0001g0102
a0001c0003t0001g0103
a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0003t0001g0109
a0001c0003t0001g0110
a0001c0003t0003g0054
a0001c0006t0001g0104
a0001c0006t0001g0112
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0003c0005t0001g0017
a0003c0005t0001g0057
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
a0010c0013t0001g0063
 151 HG00438.hp1
HG00438.hp2
HG00558.hp1
others(148): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03834.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18957.hp1
NA18957.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2120-8766A>G
c.2120-8766A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51374795
chr1:51374843 A
A
 T
T
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.2120-8814T>A
c.2120-8814T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51374843
chr1:51374865 A
A
 C
C
 1 a0002c0001t0008g0122
a0002c0001t0008g0122
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.2120-8836T>G
c.2120-8836T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51374865
chr1:51374996 C
C
 CT
CT
 19 a0001c0002t0001g0064
a0001c0002t0001g0078
a0001c0003t0001g0094
others(16): Show 
a0001c0002t0001g0064
a0001c0002t0001g0078
a0001c0003t0001g0094
a0002c0001t0004g0040
a0002c0001t0005g0138
a0002c0001t0005g0141
a0002c0001t0005g0144
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0034
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0021g0147
a0002c0001t0022g0115
a0003c0005t0001g0017
a0003c0005t0001g0057
a0008c0011t0025g0140
 19 HG00735.hp2
HG01175.hp2
HG01192.hp2
others(16): Show 
HG00735.hp2
HG01175.hp2
HG01192.hp2
HG01257.hp1
HG01884.hp2
HG01891.hp2
HG02257.hp2
HG02615.hp1
HG03098.hp1
HG03139.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG04228.hp1
HG06807.hp1
NA19030.hp1
NA19030.hp2
NA20752.hp2
 intron_variant MODIFIER c.2120-8968dupA
c.2120-8968dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51374996
chr1:51374996 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 C
C
 1 a0001c0002t0003g0077
a0001c0002t0003g0077
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.2120-8977_2120-896
others(14): Show 
c.2120-8977_2120-8968delAAAAAAAAAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51374996
chr1:51374996 CTTTTTTT
others(7): Show 
CTTTTTTTTTTTTTT
 C
C
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2120-8981_2120-896
others(18): Show 
c.2120-8981_2120-8968delAAAAAAAAAAAAAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51374996
chr1:51375005 T
T
 G
G
 1 a0001c0002t0013g0065
a0001c0002t0013g0065
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.2120-8976A>C
c.2120-8976A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51375005
chr1:51375089 C
C
 A
A
 1 a0001c0002t0003g0077
a0001c0002t0003g0077
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.2120-9060G>T
c.2120-9060G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51375089
chr1:51375096 G
G
 A
A
 1 a0010c0013t0001g0063
a0010c0013t0001g0063
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.2120-9067C>T
c.2120-9067C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51375096
chr1:51375163 G
G
 A
A
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.2120-9134C>T
c.2120-9134C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51375163
chr1:51375281 G
G
 A
A
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.2120-9252C>T
c.2120-9252C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51375281
chr1:51375290 C
C
 T
T
 9 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(6): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0007c0009t0015g0125
 9 HG02257.hp1
HG02572.hp1
HG03041.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.2120-9261G>A
c.2120-9261G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51375290
chr1:51375495 G
G
 A
A
 1 a0001c0003t0001g0094
a0001c0003t0001g0094
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.2120-9466C>T
c.2120-9466C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51375495
chr1:51375656 T
T
 C
C
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.2120-9627A>G
c.2120-9627A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51375656
chr1:51376088 C
C
 G
G
 1 a0002c0004t0002g0004
a0002c0004t0002g0004
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.2120-10059G>C
c.2120-10059G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51376088
chr1:51376296 T
T
 C
C
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.2120-10267A>G
c.2120-10267A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51376296
chr1:51376373 C
C
 T
T
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.2120-10344G>A
c.2120-10344G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51376373
chr1:51376521 G
G
 A
A
 12 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(9): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 12 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(9): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
NA18522.hp1
 intron_variant MODIFIER c.2120-10492C>T
c.2120-10492C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51376521
chr1:51376608 G
G
 A
A
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2120-10579C>T
c.2120-10579C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51376608
chr1:51376647 G
G
 A
A
 12 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(9): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 12 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(9): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
NA18522.hp1
 intron_variant MODIFIER c.2120-10618C>T
c.2120-10618C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51376647
chr1:51376819 T
T
 C
C
 1 a0002c0001t0014g0037
a0002c0001t0014g0037
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2120-10790A>G
c.2120-10790A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51376819
chr1:51376865 C
C
 T
T
 8 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(5): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0124
 8 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(5): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2120-10836G>A
c.2120-10836G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51376865
chr1:51376924 A
A
 G
G
 14 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(11): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 14 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(11): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.2120-10895T>C
c.2120-10895T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51376924
chr1:51376927 G
G
 A
A
 2 a0001c0003t0001g0053
a0001c0003t0001g0089
a0001c0003t0001g0053
a0001c0003t0001g0089
 2 HG00642.hp2
HG02258.hp1
HG00642.hp2
HG02258.hp1
 intron_variant MODIFIER c.2120-10898C>T
c.2120-10898C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51376927
chr1:51377035 G
G
 A
A
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2120-11006C>T
c.2120-11006C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51377035
chr1:51377072 G
G
 T
T
 1 a0002c0001t0023g0151
a0002c0001t0023g0151
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.2120-11043C>A
c.2120-11043C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51377072
chr1:51377129 G
G
 A
A
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2120-11100C>T
c.2120-11100C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51377129
chr1:51377150 G
G
 C
C
 11 a0001c0003t0001g0100
a0001c0003t0001g0109
a0002c0001t0007g0133
others(8): Show 
a0001c0003t0001g0100
a0001c0003t0001g0109
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 11 HG00642.hp1
HG01074.hp1
HG01109.hp2
others(8): Show 
HG00642.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2120-11121C>G
c.2120-11121C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51377150
chr1:51377238 T
T
 C
C
 3 a0001c0002t0001g0082
a0003c0005t0001g0017
a0003c0005t0001g0057
a0001c0002t0001g0082
a0003c0005t0001g0017
a0003c0005t0001g0057
 3 HG01257.hp1
HG03491.hp2
NA20752.hp2
HG01257.hp1
HG03491.hp2
NA20752.hp2
 intron_variant MODIFIER c.2120-11209A>G
c.2120-11209A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51377238
chr1:51377895 CT
CT
 C
C
 15 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(12): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
 15 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(12): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.2120-11867delA
c.2120-11867delA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51377895
chr1:51378085 C
C
 T
T
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.2120-12056G>A
c.2120-12056G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51378085
chr1:51378112 G
G
 T
T
 8 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(5): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0124
 8 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(5): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2120-12083C>A
c.2120-12083C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51378112
chr1:51378203 A
A
 AT
AT
 33 a0002c0001t0004g0040
a0002c0001t0005g0138
a0002c0001t0005g0139
others(30): Show 
a0002c0001t0004g0040
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0029
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0007t0010g0043
a0004c0015t0011g0152
a0006c0010t0026g0129
a0008c0011t0025g0140
 33 HG00735.hp2
HG00738.hp1
HG01109.hp2
others(30): Show 
HG00735.hp2
HG00738.hp1
HG01109.hp2
HG01175.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02109.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02717.hp2
HG02818.hp1
HG02976.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03491.hp1
HG03492.hp2
NA18522.hp2
NA19030.hp1
NA19043.hp1
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.2120-12175dupA
c.2120-12175dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51378203
chr1:51378203 A
A
 ATT
ATT
 22 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(19): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0124
a0002c0001t0006g0028
a0002c0001t0009g0116
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0002c0001t0022g0115
a0005c0008t0002g0033
 22 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(19): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02257.hp1
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp2
HG06807.hp1
NA19030.hp2
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2120-12176_2120-12
others(8): Show 
c.2120-12176_2120-12175dupAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51378203
chr1:51378203 A
A
 ATTT
ATTT
 17 a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0004t0002g0004
others(14): Show 
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
a0007c0009t0015g0125
 17 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(14): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03098.hp1
HG03195.hp2
HG03486.hp1
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
 intron_variant MODIFIER c.2120-12177_2120-12
others(9): Show 
c.2120-12177_2120-12175dupAAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51378203
chr1:51378284 C
C
 T
T
 1 a0001c0002t0003g0076
a0001c0002t0003g0076
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.2120-12255G>A
c.2120-12255G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51378284
chr1:51378388 G
G
 A
A
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.2120-12359C>T
c.2120-12359C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51378388
chr1:51378515 C
C
 T
T
 1 a0002c0001t0004g0025
a0002c0001t0004g0025
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.2120-12486G>A
c.2120-12486G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51378515
chr1:51378530 T
T
 A
A
 9 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(6): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
 9 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(6): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2120-12501A>T
c.2120-12501A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51378530
chr1:51378545 C
C
 A
A
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2120-12516G>T
c.2120-12516G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51378545
chr1:51378635 A
A
 G
G
 2 a0002c0001t0009g0116
a0002c0001t0022g0115
a0002c0001t0009g0116
a0002c0001t0022g0115
 2 HG06807.hp1
NA19030.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.2120-12606T>C
c.2120-12606T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51378635
chr1:51378666 A
A
 G
G
 4 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(1): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0005c0008t0002g0033
 4 HG02630.hp2
HG02717.hp1
HG02976.hp1
others(1): Show 
HG02630.hp2
HG02717.hp1
HG02976.hp1
NA19240.hp1
 intron_variant MODIFIER c.2120-12637T>C
c.2120-12637T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51378666
chr1:51378674 C
C
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2120-12645G>A
c.2120-12645G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51378674
chr1:51378686 A
A
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2120-12657T>G
c.2120-12657T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51378686
chr1:51378705 T
T
 C
C
 1 a0001c0003t0001g0102
a0001c0003t0001g0102
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.2120-12676A>G
c.2120-12676A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51378705
chr1:51378715 A
A
 G
G
 4 a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
others(1): Show 
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0007c0009t0015g0125
 4 HG02257.hp1
HG03139.hp2
HG03486.hp1
others(1): Show 
HG02257.hp1
HG03139.hp2
HG03486.hp1
NA19043.hp2
 intron_variant MODIFIER c.2120-12686T>C
c.2120-12686T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51378715
chr1:51379013 T
T
 A
A
 9 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(6): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0007c0009t0015g0125
 9 HG02257.hp1
HG02572.hp1
HG03041.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.2120-12984A>T
c.2120-12984A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51379013
chr1:51379069 C
C
 T
T
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.2120-13040G>A
c.2120-13040G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51379069
chr1:51379106 G
G
 C
C
 122 a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
others(119): Show 
a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0051
a0001c0002t0001g0052
a0001c0002t0001g0056
a0001c0002t0001g0064
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0111
a0001c0002t0001g0113
a0001c0002t0001g0114
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0003g0049
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0003g0061
a0001c0002t0003g0069
a0001c0002t0003g0070
a0001c0002t0003g0074
a0001c0002t0003g0075
a0001c0002t0003g0076
a0001c0002t0003g0106
a0001c0002t0013g0062
a0001c0002t0013g0065
a0001c0002t0017g0032
a0001c0002t0018g0105
a0001c0002t0019g0055
a0001c0002t0020g0050
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0003c0005t0001g0017
a0003c0005t0001g0057
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
a0010c0013t0001g0063
 122 HG00438.hp1
HG00438.hp2
HG00558.hp1
others(119): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp1
HG01257.hp2
HG01261.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18957.hp1
NA18957.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2120-13077C>G
c.2120-13077C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51379106
chr1:51379231 C
C
 T
T
 2 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0018
a0002c0001t0004g0019
 2 HG00735.hp1
HG01192.hp1
HG00735.hp1
HG01192.hp1
 intron_variant MODIFIER c.2120-13202G>A
c.2120-13202G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51379231
chr1:51379280 C
C
 G
G
 1 a0002c0001t0004g0025
a0002c0001t0004g0025
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.2120-13251G>C
c.2120-13251G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51379280
chr1:51379322 G
G
 A
A
 5 a0002c0001t0004g0040
a0002c0001t0010g0041
a0002c0001t0010g0042
others(2): Show 
a0002c0001t0004g0040
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 5 HG02109.hp2
HG02717.hp2
HG02818.hp1
others(2): Show 
HG02109.hp2
HG02717.hp2
HG02818.hp1
HG03209.hp2
HG03453.hp2
 intron_variant MODIFIER c.2120-13293C>T
c.2120-13293C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51379322
chr1:51379330 G
G
 A
A
 1 a0001c0002t0001g0072
a0001c0002t0001g0072
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.2120-13301C>T
c.2120-13301C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51379330
chr1:51379569 T
T
 C
C
 1 a0002c0001t0004g0025
a0002c0001t0004g0025
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.2120-13540A>G
c.2120-13540A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51379569
chr1:51379590 A
A
 T
T
 1 a0002c0001t0005g0139
a0002c0001t0005g0139
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.2120-13561T>A
c.2120-13561T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51379590
chr1:51379814 C
C
 T
T
 1 a0002c0001t0014g0037
a0002c0001t0014g0037
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2120-13785G>A
c.2120-13785G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51379814
chr1:51379843 C
C
 T
T
 1 a0001c0003t0001g0068
a0001c0003t0001g0068
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.2120-13814G>A
c.2120-13814G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51379843
chr1:51379879 C
C
 T
T
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.2120-13850G>A
c.2120-13850G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51379879
chr1:51379890 C
C
 T
T
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.2120-13861G>A
c.2120-13861G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51379890
chr1:51379993 G
G
 T
T
 1 a0007c0009t0015g0125
a0007c0009t0015g0125
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.2120-13964C>A
c.2120-13964C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51379993
chr1:51380032 G
G
 C
C
 4 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(1): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0005c0008t0002g0033
 4 HG02630.hp2
HG02717.hp1
HG02976.hp1
others(1): Show 
HG02630.hp2
HG02717.hp1
HG02976.hp1
NA19240.hp1
 intron_variant MODIFIER c.2120-14003C>G
c.2120-14003C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51380032
chr1:51380057 G
G
 GA
GA
 8 a0002c0001t0022g0115
a0002c0004t0002g0009
a0002c0004t0002g0011
others(5): Show 
a0002c0001t0022g0115
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0014t0002g0010
a0008c0011t0025g0140
 8 HG01167.hp2
HG02257.hp2
HG02486.hp2
others(5): Show 
HG01167.hp2
HG02257.hp2
HG02486.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG06807.hp1
NA18522.hp1
 intron_variant MODIFIER c.2120-14029dupT
c.2120-14029dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51380057
chr1:51380058 A
A
 G
G
 2 a0001c0002t0001g0084
a0001c0002t0017g0032
a0001c0002t0001g0084
a0001c0002t0017g0032
 2 HG01261.hp2
HG02717.hp1
HG01261.hp2
HG02717.hp1
 intron_variant MODIFIER c.2120-14029T>C
c.2120-14029T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51380058
chr1:51380160 G
G
 A
A
 2 a0001c0002t0001g0085
a0001c0002t0019g0055
a0001c0002t0001g0085
a0001c0002t0019g0055
 2 HG00558.hp2
NA18747.hp2
HG00558.hp2
NA18747.hp2
 intron_variant MODIFIER c.2120-14131C>T
c.2120-14131C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51380160
chr1:51380531 T
T
 C
C
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.2119+13850A>G
c.2119+13850A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51380531
chr1:51381053 C
C
 T
T
 1 a0002c0001t0010g0044
a0002c0001t0010g0044
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.2119+13328G>A
c.2119+13328G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51381053
chr1:51381109 T
T
 TTCAATGT
others(15): Show 
TTCAATGTGAATAAAACAGAAGA
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2119+13271_2119+13
others(28): Show 
c.2119+13271_2119+13272insTCTTCTGTTTTATTCACATTGA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51381109
chr1:51381255 C
C
 T
T
 2 a0003c0005t0001g0017
a0003c0005t0001g0057
a0003c0005t0001g0017
a0003c0005t0001g0057
 2 HG01257.hp1
NA20752.hp2
HG01257.hp1
NA20752.hp2
 intron_variant MODIFIER c.2119+13126G>A
c.2119+13126G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51381255
chr1:51381311 A
A
 G
G
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2119+13070T>C
c.2119+13070T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51381311
chr1:51381390 C
C
 T
T
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.2119+12991G>A
c.2119+12991G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51381390
chr1:51381528 G
G
 A
A
 1 a0002c0001t0022g0115
a0002c0001t0022g0115
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.2119+12853C>T
c.2119+12853C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51381528
chr1:51381541 T
T
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2119+12840A>G
c.2119+12840A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51381541
chr1:51381568 G
G
 T
T
 1 a0002c0001t0010g0044
a0002c0001t0010g0044
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.2119+12813C>A
c.2119+12813C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51381568
chr1:51381586 C
C
 T
T
 5 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(2): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0016g0027
 5 HG02572.hp1
HG03041.hp1
HG03098.hp1
others(2): Show 
HG02572.hp1
HG03041.hp1
HG03098.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.2119+12795G>A
c.2119+12795G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51381586
chr1:51381649 A
A
 C
C
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.2119+12732T>G
c.2119+12732T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51381649
chr1:51381675 G
G
 A
A
 1 a0001c0002t0001g0045
a0001c0002t0001g0045
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.2119+12706C>T
c.2119+12706C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51381675
chr1:51381679 T
T
 C
C
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.2119+12702A>G
c.2119+12702A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51381679
chr1:51381705 C
C
 T
T
 3 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
 3 HG00642.hp1
HG01257.hp2
NA20129.hp2
HG00642.hp1
HG01257.hp2
NA20129.hp2
 intron_variant MODIFIER c.2119+12676G>A
c.2119+12676G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51381705
chr1:51381950 T
T
 C
C
 1 a0001c0003t0001g0094
a0001c0003t0001g0094
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.2119+12431A>G
c.2119+12431A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51381950
chr1:51382048 C
C
 T
T
 3 a0002c0001t0004g0022
a0003c0005t0001g0017
a0003c0005t0001g0057
a0002c0001t0004g0022
a0003c0005t0001g0017
a0003c0005t0001g0057
 3 HG01257.hp1
NA20752.hp2
NA20805.hp1
HG01257.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.2119+12333G>A
c.2119+12333G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51382048
chr1:51382249 A
A
 G
G
 4 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(1): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0005c0008t0002g0033
 4 HG02630.hp2
HG02717.hp1
HG02976.hp1
others(1): Show 
HG02630.hp2
HG02717.hp1
HG02976.hp1
NA19240.hp1
 intron_variant MODIFIER c.2119+12132T>C
c.2119+12132T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51382249
chr1:51382378 G
G
 C
C
 1 a0002c0001t0005g0139
a0002c0001t0005g0139
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.2119+12003C>G
c.2119+12003C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51382378
chr1:51382416 A
A
 AT
AT
 19 a0001c0002t0001g0052
a0001c0002t0001g0086
a0001c0002t0002g0030
others(16): Show 
a0001c0002t0001g0052
a0001c0002t0001g0086
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0003t0001g0093
a0001c0003t0001g0102
a0001c0003t0003g0054
a0002c0001t0005g0138
a0002c0001t0005g0142
a0002c0001t0005g0148
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0004t0002g0005
a0002c0004t0002g0014
a0008c0011t0025g0140
 19 HG00642.hp1
HG00733.hp1
HG00738.hp2
others(16): Show 
HG00642.hp1
HG00733.hp1
HG00738.hp2
HG01257.hp2
HG02055.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02451.hp1
HG02486.hp1
HG02630.hp2
HG02738.hp2
HG03654.hp2
HG04199.hp1
NA19030.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.2119+11964dupA
c.2119+11964dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51382416
chr1:51382416 A
A
 ATT
ATT
 10 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(7): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
a0009c0012t0007g0136
 10 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(7): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
HG03130.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2119+11963_2119+11
others(8): Show 
c.2119+11963_2119+11964dupAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51382416
chr1:51382416 AT
AT
 A
A
 5 a0002c0001t0006g0034
a0002c0001t0012g0001
a0002c0001t0012g0002
others(2): Show 
a0002c0001t0006g0034
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0007c0009t0015g0125
 5 HG02257.hp1
HG03098.hp1
HG03139.hp2
others(2): Show 
HG02257.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA19043.hp2
 intron_variant MODIFIER c.2119+11964delA
c.2119+11964delA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51382416
chr1:51382479 T
T
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2119+11902A>G
c.2119+11902A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51382479
chr1:51382532 T
T
 C
C
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.2119+11849A>G
c.2119+11849A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51382532
chr1:51382563 C
C
 T
T
 1 a0002c0001t0022g0115
a0002c0001t0022g0115
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.2119+11818G>A
c.2119+11818G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51382563
chr1:51382580 G
G
 A
A
 12 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(9): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 12 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(9): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
NA18522.hp1
 intron_variant MODIFIER c.2119+11801C>T
c.2119+11801C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51382580
chr1:51382955 A
A
 T
T
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.2119+11426T>A
c.2119+11426T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51382955
chr1:51383090 T
T
 G
G
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.2119+11291A>C
c.2119+11291A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51383090
chr1:51383198 C
C
 T
T
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.2119+11183G>A
c.2119+11183G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51383198
chr1:51383277 T
T
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2119+11104A>G
c.2119+11104A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51383277
chr1:51383600 C
C
 T
T
 3 a0001c0002t0001g0082
a0003c0005t0001g0017
a0003c0005t0001g0057
a0001c0002t0001g0082
a0003c0005t0001g0017
a0003c0005t0001g0057
 3 HG01257.hp1
HG03491.hp2
NA20752.hp2
HG01257.hp1
HG03491.hp2
NA20752.hp2
 intron_variant MODIFIER c.2119+10781G>A
c.2119+10781G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51383600
chr1:51383605 C
C
 T
T
 1 a0001c0002t0003g0077
a0001c0002t0003g0077
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.2119+10776G>A
c.2119+10776G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51383605
chr1:51383731 G
G
 A
A
 1 a0007c0009t0015g0125
a0007c0009t0015g0125
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.2119+10650C>T
c.2119+10650C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51383731
chr1:51383734 G
G
 A
A
 1 a0002c0001t0012g0002
a0002c0001t0012g0002
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.2119+10647C>T
c.2119+10647C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51383734
chr1:51383741 C
C
 A
A
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2119+10640G>T
c.2119+10640G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51383741
chr1:51384016 T
T
 G
G
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2119+10365A>C
c.2119+10365A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51384016
chr1:51384077 G
G
 C
C
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2119+10304C>G
c.2119+10304C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51384077
chr1:51384294 C
C
 CT
CT
 4 a0002c0001t0005g0146
a0002c0001t0009g0117
a0002c0001t0009g0118
others(1): Show 
a0002c0001t0005g0146
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 4 HG00735.hp2
HG02055.hp2
HG03491.hp1
others(1): Show 
HG00735.hp2
HG02055.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.2119+10086dupA
c.2119+10086dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51384294
chr1:51384294 C
C
 CTTT
CTTT
 3 a0001c0002t0002g0030
a0001c0002t0002g0031
a0002c0001t0009g0116
a0001c0002t0002g0030
a0001c0002t0002g0031
a0002c0001t0009g0116
 3 HG02630.hp2
NA19030.hp2
NA19240.hp1
HG02630.hp2
NA19030.hp2
NA19240.hp1
 intron_variant MODIFIER c.2119+10084_2119+10
others(9): Show 
c.2119+10084_2119+10086dupAAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51384294
chr1:51384296 TTC
TTC
 T
T
 22 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(19): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 22 HG00733.hp2
HG00735.hp1
HG01167.hp2
others(19): Show 
HG00733.hp2
HG00735.hp1
HG01167.hp2
HG01192.hp1
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02451.hp2
HG02486.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
NA18522.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2119+10083_2119+10
others(8): Show 
c.2119+10083_2119+10084delGA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51384296
chr1:51384297 TC
TC
 T
T
 20 a0002c0001t0004g0040
a0002c0001t0005g0138
a0002c0001t0005g0139
others(17): Show 
a0002c0001t0004g0040
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0007t0010g0043
 20 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(17): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02109.hp2
HG02258.hp2
HG02572.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp2
NA18522.hp2
NA18906.hp2
NA19030.hp1
 intron_variant MODIFIER c.2119+10083delG
c.2119+10083delG
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51384297
chr1:51384298 C
C
 CT
CT
 45 a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
others(42): Show 
a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0051
a0001c0002t0001g0052
a0001c0002t0001g0056
a0001c0002t0001g0064
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0111
a0001c0002t0001g0113
a0001c0002t0001g0114
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0003g0049
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0061
a0001c0002t0003g0069
a0001c0002t0003g0070
a0001c0002t0003g0074
a0001c0002t0003g0075
a0001c0002t0003g0076
a0001c0002t0003g0106
a0001c0002t0018g0105
a0001c0002t0019g0055
a0001c0002t0020g0050
a0001c0003t0001g0099
a0003c0005t0001g0017
a0003c0005t0001g0057
a0010c0013t0001g0063
 45 HG00438.hp1
HG00438.hp2
HG00558.hp1
others(42): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01168.hp2
HG01175.hp2
HG01257.hp1
HG01261.hp1
HG01261.hp2
HG02055.hp1
HG02145.hp1
HG02451.hp1
HG02559.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02818.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03471.hp1
HG03491.hp2
HG03492.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18957.hp1
NA18957.hp2
NA19011.hp1
NA19011.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.2119+10082dupA
c.2119+10082dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51384298
chr1:51384298 C
C
 CTT
CTT
 5 a0001c0002t0003g0060
a0001c0002t0013g0062
a0001c0002t0013g0065
others(2): Show 
a0001c0002t0003g0060
a0001c0002t0013g0062
a0001c0002t0013g0065
a0002c0004t0002g0007
a0002c0004t0002g0008
 5 HG00741.hp2
HG01952.hp1
HG02723.hp2
others(2): Show 
HG00741.hp2
HG01952.hp1
HG02723.hp2
HG06807.hp2
NA20300.hp2
 intron_variant MODIFIER c.2119+10081_2119+10
others(8): Show 
c.2119+10081_2119+10082dupAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51384298
chr1:51384298 C
C
 T
T
 28 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(25): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0005g0142
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0022g0115
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 28 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(25): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02055.hp2
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02976.hp1
HG03130.hp1
HG03139.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.2119+10083G>A
c.2119+10083G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51384298
chr1:51384299 T
T
 C
C
 2 a0001c0003t0001g0096
a0001c0003t0001g0098
a0001c0003t0001g0096
a0001c0003t0001g0098
 2 HG02735.hp1
HG04204.hp2
HG02735.hp1
HG04204.hp2
 intron_variant MODIFIER c.2119+10082A>G
c.2119+10082A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51384299
chr1:51384327 G
G
 C
C
 2 a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0014g0036
a0002c0001t0014g0037
 2 HG02451.hp2
HG02976.hp2
HG02451.hp2
HG02976.hp2
 intron_variant MODIFIER c.2119+10054C>G
c.2119+10054C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51384327
chr1:51384471 T
T
 C
C
 2 a0001c0003t0001g0100
a0001c0003t0001g0109
a0001c0003t0001g0100
a0001c0003t0001g0109
 2 HG01074.hp1
HG01168.hp1
HG01074.hp1
HG01168.hp1
 intron_variant MODIFIER c.2119+9910A>G
c.2119+9910A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51384471
chr1:51384473 G
G
 C
C
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.2119+9908C>G
c.2119+9908C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51384473
chr1:51384508 C
C
 T
T
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.2119+9873G>A
c.2119+9873G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51384508
chr1:51384632 C
C
 A
A
 2 a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0006g0034
a0002c0001t0006g0035
 2 HG03098.hp1
NA18906.hp2
HG03098.hp1
NA18906.hp2
 intron_variant MODIFIER c.2119+9749G>T
c.2119+9749G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51384632
chr1:51384729 G
G
 A
A
 1 a0001c0003t0001g0108
a0001c0003t0001g0108
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.2119+9652C>T
c.2119+9652C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51384729
chr1:51384771 A
A
 C
C
 5 a0001c0003t0001g0053
a0001c0003t0001g0081
a0001c0003t0001g0089
others(2): Show 
a0001c0003t0001g0053
a0001c0003t0001g0081
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0003g0054
 5 HG00642.hp2
HG01884.hp1
HG02145.hp2
others(2): Show 
HG00642.hp2
HG01884.hp1
HG02145.hp2
HG02258.hp1
HG03453.hp1
 intron_variant MODIFIER c.2119+9610T>G
c.2119+9610T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51384771
chr1:51384800 A
A
 G
G
 1 a0002c0001t0023g0151
a0002c0001t0023g0151
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.2119+9581T>C
c.2119+9581T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51384800
chr1:51384853 G
G
 A
A
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.2119+9528C>T
c.2119+9528C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51384853
chr1:51384896 G
G
 T
T
 2 a0001c0002t0001g0091
a0001c0002t0001g0111
a0001c0002t0001g0091
a0001c0002t0001g0111
 2 HG04115.hp2
HG04228.hp2
HG04115.hp2
HG04228.hp2
 intron_variant MODIFIER c.2119+9485C>A
c.2119+9485C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51384896
chr1:51385000 G
G
 C
C
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.2119+9381C>G
c.2119+9381C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51385000
chr1:51385029 C
C
 T
T
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2119+9352G>A
c.2119+9352G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51385029
chr1:51385129 C
C
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2119+9252G>A
c.2119+9252G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51385129
chr1:51385186 C
C
 A
A
 4 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(1): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0005c0008t0002g0033
 4 HG02630.hp2
HG02717.hp1
HG02976.hp1
others(1): Show 
HG02630.hp2
HG02717.hp1
HG02976.hp1
NA19240.hp1
 intron_variant MODIFIER c.2119+9195G>T
c.2119+9195G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51385186
chr1:51385262 G
G
 A
A
 1 a0001c0002t0001g0073
a0001c0002t0001g0073
 1 HG03492.hp1
HG03492.hp1
 intron_variant MODIFIER c.2119+9119C>T
c.2119+9119C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51385262
chr1:51385483 T
T
 C
C
 3 a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
 3 HG02257.hp1
HG03139.hp2
NA19043.hp2
HG02257.hp1
HG03139.hp2
NA19043.hp2
 intron_variant MODIFIER c.2119+8898A>G
c.2119+8898A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51385483
chr1:51385563 C
C
 T
T
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2119+8818G>A
c.2119+8818G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51385563
chr1:51385745 T
T
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2119+8636A>G
c.2119+8636A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51385745
chr1:51385755 T
T
 C
C
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2119+8626A>G
c.2119+8626A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51385755
chr1:51385997 G
G
 A
A
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.2119+8384C>T
c.2119+8384C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51385997
chr1:51386113 C
C
 T
T
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.2119+8268G>A
c.2119+8268G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51386113
chr1:51386206 G
G
 A
A
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.2119+8175C>T
c.2119+8175C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51386206
chr1:51386241 T
T
 A
A
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2119+8140A>T
c.2119+8140A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51386241
chr1:51386242 T
T
 A
A
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.2119+8139A>T
c.2119+8139A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51386242
chr1:51386292 T
T
 C
C
 1 a0001c0002t0002g0031
a0001c0002t0002g0031
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.2119+8089A>G
c.2119+8089A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51386292
chr1:51386351 G
G
 C
C
 3 a0001c0002t0003g0069
a0001c0002t0003g0070
a0001c0002t0003g0076
a0001c0002t0003g0069
a0001c0002t0003g0070
a0001c0002t0003g0076
 3 HG02647.hp2
HG03130.hp2
NA18906.hp1
HG02647.hp2
HG03130.hp2
NA18906.hp1
 intron_variant MODIFIER c.2119+8030C>G
c.2119+8030C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51386351
chr1:51386424 T
T
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2119+7957A>G
c.2119+7957A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51386424
chr1:51386493 G
G
 A
A
 2 a0002c0001t0009g0116
a0002c0001t0022g0115
a0002c0001t0009g0116
a0002c0001t0022g0115
 2 HG06807.hp1
NA19030.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.2119+7888C>T
c.2119+7888C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51386493
chr1:51386604 T
T
 C
C
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.2119+7777A>G
c.2119+7777A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51386604
chr1:51386647 A
A
 G
G
 1 a0002c0001t0005g0139
a0002c0001t0005g0139
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.2119+7734T>C
c.2119+7734T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51386647
chr1:51386724 G
G
 C
C
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2119+7657C>G
c.2119+7657C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51386724
chr1:51387010 T
T
 A
A
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.2119+7371A>T
c.2119+7371A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51387010
chr1:51387081 T
T
 A
A
 1 a0005c0008t0002g0033
a0005c0008t0002g0033
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.2119+7300A>T
c.2119+7300A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51387081
chr1:51387114 G
G
 A
A
 1 a0002c0001t0004g0040
a0002c0001t0004g0040
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.2119+7267C>T
c.2119+7267C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51387114
chr1:51387294 T
T
 C
C
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2119+7087A>G
c.2119+7087A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51387294
chr1:51387344 A
A
 G
G
 1 a0007c0009t0015g0125
a0007c0009t0015g0125
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.2119+7037T>C
c.2119+7037T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51387344
chr1:51387380 G
G
 T
T
 2 a0002c0001t0009g0116
a0002c0001t0022g0115
a0002c0001t0009g0116
a0002c0001t0022g0115
 2 HG06807.hp1
NA19030.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.2119+7001C>A
c.2119+7001C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51387380
chr1:51387391 C
C
 G
G
 2 a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0006g0034
a0002c0001t0006g0035
 2 HG03098.hp1
NA18906.hp2
HG03098.hp1
NA18906.hp2
 intron_variant MODIFIER c.2119+6990G>C
c.2119+6990G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51387391
chr1:51387425 C
C
 A
A
 75 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(72): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 75 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(72): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2119+6956G>T
c.2119+6956G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51387425
chr1:51387540 T
T
 G
G
 1 a0002c0001t0004g0022
a0002c0001t0004g0022
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.2119+6841A>C
c.2119+6841A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51387540
chr1:51387554 T
T
 C
C
 21 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(18): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0022g0115
a0002c0007t0010g0043
 21 HG00733.hp2
HG00735.hp1
HG00735.hp2
others(18): Show 
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02109.hp2
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG03209.hp2
HG03453.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
NA19240.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2119+6827A>G
c.2119+6827A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51387554
chr1:51387610 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2119+6771C>T
c.2119+6771C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51387610
chr1:51387780 TA
TA
 T
T
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.2119+6600delT
c.2119+6600delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51387780
chr1:51387989 C
C
 A
A
 1 a0001c0002t0001g0088
a0001c0002t0001g0088
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.2119+6392G>T
c.2119+6392G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51387989
chr1:51387994 C
C
 A
A
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2119+6387G>T
c.2119+6387G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51387994
chr1:51388059 T
T
 C
C
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.2119+6322A>G
c.2119+6322A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51388059
chr1:51388060 G
G
 A
A
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.2119+6321C>T
c.2119+6321C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51388060
chr1:51388077 T
T
 G
G
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.2119+6304A>C
c.2119+6304A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51388077
chr1:51388164 A
A
 G
G
 1 a0002c0001t0024g0145
a0002c0001t0024g0145
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.2119+6217T>C
c.2119+6217T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51388164
chr1:51388192 A
A
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2119+6189T>G
c.2119+6189T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51388192
chr1:51388389 C
C
 T
T
 1 a0001c0003t0001g0093
a0001c0003t0001g0093
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.2119+5992G>A
c.2119+5992G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51388389
chr1:51388534 T
T
 G
G
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2119+5847A>C
c.2119+5847A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51388534
chr1:51388565 C
C
 T
T
 1 a0001c0002t0001g0084
a0001c0002t0001g0084
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.2119+5816G>A
c.2119+5816G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51388565
chr1:51388566 G
G
 A
A
 9 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(6): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0007c0009t0015g0125
 9 HG02257.hp1
HG02572.hp1
HG03041.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.2119+5815C>T
c.2119+5815C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51388566
chr1:51388590 A
A
 G
G
 1 a0002c0001t0021g0147
a0002c0001t0021g0147
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.2119+5791T>C
c.2119+5791T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51388590
chr1:51388612 G
G
 A
A
 10 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(7): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0007c0009t0015g0125
a0009c0012t0007g0136
 10 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(7): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
HG03486.hp1
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2119+5769C>T
c.2119+5769C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51388612
chr1:51388643 C
C
 T
T
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2119+5738G>A
c.2119+5738G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51388643
chr1:51388645 G
G
 A
A
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.2119+5736C>T
c.2119+5736C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51388645
chr1:51388683 C
C
 T
T
 3 a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
 3 HG00438.hp1
NA18747.hp1
NA19011.hp2
HG00438.hp1
NA18747.hp1
NA19011.hp2
 intron_variant MODIFIER c.2119+5698G>A
c.2119+5698G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51388683
chr1:51388735 C
C
 A
A
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.2119+5646G>T
c.2119+5646G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51388735
chr1:51388899 A
A
 G
G
 2 a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0006g0034
a0002c0001t0006g0035
 2 HG03098.hp1
NA18906.hp2
HG03098.hp1
NA18906.hp2
 intron_variant MODIFIER c.2119+5482T>C
c.2119+5482T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51388899
chr1:51388936 G
G
 C
C
 1 a0002c0001t0004g0040
a0002c0001t0004g0040
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.2119+5445C>G
c.2119+5445C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51388936
chr1:51388988 T
T
 C
C
 2 a0001c0002t0013g0062
a0001c0002t0013g0065
a0001c0002t0013g0062
a0001c0002t0013g0065
 2 HG00741.hp2
HG01952.hp1
HG00741.hp2
HG01952.hp1
 intron_variant MODIFIER c.2119+5393A>G
c.2119+5393A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51388988
chr1:51389009 C
C
 T
T
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2119+5372G>A
c.2119+5372G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51389009
chr1:51389129 T
T
 C
C
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.2119+5252A>G
c.2119+5252A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51389129
chr1:51389204 C
C
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2119+5177G>T
c.2119+5177G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51389204
chr1:51389262 TCAA
TCAA
 T
T
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.2119+5116_2119+511
others(7): Show 
c.2119+5116_2119+5118delTTG
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51389262
chr1:51389285 T
T
 C
C
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.2119+5096A>G
c.2119+5096A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51389285
chr1:51389293 A
A
 G
G
 2 a0002c0001t0009g0116
a0002c0001t0022g0115
a0002c0001t0009g0116
a0002c0001t0022g0115
 2 HG06807.hp1
NA19030.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.2119+5088T>C
c.2119+5088T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51389293
chr1:51389313 G
G
 A
A
 2 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0002g0030
a0001c0002t0002g0031
 2 HG02630.hp2
NA19240.hp1
HG02630.hp2
NA19240.hp1
 intron_variant MODIFIER c.2119+5068C>T
c.2119+5068C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51389313
chr1:51389402 C
C
 A
A
 4 a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
others(1): Show 
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 4 HG02109.hp2
HG02717.hp2
HG02818.hp1
others(1): Show 
HG02109.hp2
HG02717.hp2
HG02818.hp1
HG03209.hp2
 intron_variant MODIFIER c.2119+4979G>T
c.2119+4979G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51389402
chr1:51389526 A
A
 C
C
 1 a0002c0001t0007g0134
a0002c0001t0007g0134
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.2119+4855T>G
c.2119+4855T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51389526
chr1:51389706 T
T
 C
C
 1 a0001c0002t0001g0082
a0001c0002t0001g0082
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.2119+4675A>G
c.2119+4675A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51389706
chr1:51389723 A
A
 C
C
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2119+4658T>G
c.2119+4658T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51389723
chr1:51389903 T
T
 G
G
 1 a0002c0001t0005g0139
a0002c0001t0005g0139
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.2119+4478A>C
c.2119+4478A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51389903
chr1:51389997 T
T
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2119+4384A>G
c.2119+4384A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51389997
chr1:51390147 T
T
 C
C
 16 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(13): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0007t0010g0043
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 16 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(13): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02109.hp2
HG02559.hp2
HG02717.hp2
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.2119+4234A>G
c.2119+4234A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51390147
chr1:51390152 A
A
 T
T
 8 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(5): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0124
 8 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(5): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2119+4229T>A
c.2119+4229T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51390152
chr1:51390156 C
C
 T
T
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2119+4225G>A
c.2119+4225G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51390156
chr1:51390179 A
A
 T
T
 2 a0002c0001t0009g0116
a0002c0001t0022g0115
a0002c0001t0009g0116
a0002c0001t0022g0115
 2 HG06807.hp1
NA19030.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.2119+4202T>A
c.2119+4202T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51390179
chr1:51390286 C
C
 G
G
 1 a0002c0001t0004g0040
a0002c0001t0004g0040
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.2119+4095G>C
c.2119+4095G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51390286
chr1:51390338 G
G
 A
A
 1 a0001c0003t0001g0109
a0001c0003t0001g0109
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.2119+4043C>T
c.2119+4043C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51390338
chr1:51390338 G
G
 C
C
 1 a0002c0004t0002g0008
a0002c0004t0002g0008
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.2119+4043C>G
c.2119+4043C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51390338
chr1:51390381 T
T
 A
A
 1 a0002c0001t0011g0130
a0002c0001t0011g0130
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.2119+4000A>T
c.2119+4000A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51390381
chr1:51390382 C
C
 T
T
 1 a0002c0001t0011g0130
a0002c0001t0011g0130
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.2119+3999G>A
c.2119+3999G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51390382
chr1:51390442 A
A
 C
C
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2119+3939T>G
c.2119+3939T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51390442
chr1:51390706 G
G
 A
A
 75 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(72): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 75 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(72): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2119+3675C>T
c.2119+3675C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51390706
chr1:51390747 A
A
 G
G
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.2119+3634T>C
c.2119+3634T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51390747
chr1:51390783 T
T
 C
C
 2 a0001c0002t0001g0080
a0001c0002t0001g0088
a0001c0002t0001g0080
a0001c0002t0001g0088
 2 HG00639.hp1
NA20752.hp1
HG00639.hp1
NA20752.hp1
 intron_variant MODIFIER c.2119+3598A>G
c.2119+3598A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51390783
chr1:51390810 AAAC
AAAC
 A
A
 4 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(1): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0005c0008t0002g0033
 4 HG02630.hp2
HG02717.hp1
HG02976.hp1
others(1): Show 
HG02630.hp2
HG02717.hp1
HG02976.hp1
NA19240.hp1
 intron_variant MODIFIER c.2119+3568_2119+357
others(7): Show 
c.2119+3568_2119+3570delGTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51390810
chr1:51390937 C
C
 G
G
 1 a0001c0003t0001g0068
a0001c0003t0001g0068
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.2119+3444G>C
c.2119+3444G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51390937
chr1:51390980 C
C
 T
T
 12 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(9): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 12 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(9): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
NA18522.hp1
 intron_variant MODIFIER c.2119+3401G>A
c.2119+3401G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51390980
chr1:51391014 C
C
 T
T
 1 a0001c0003t0001g0108
a0001c0003t0001g0108
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.2119+3367G>A
c.2119+3367G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51391014
chr1:51391230 C
C
 T
T
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2119+3151G>A
c.2119+3151G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51391230
chr1:51391310 T
T
 G
G
 1 a0002c0001t0004g0025
a0002c0001t0004g0025
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.2119+3071A>C
c.2119+3071A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51391310
chr1:51391313 G
G
 A
A
 2 a0001c0003t0001g0102
a0002c0001t0004g0025
a0001c0003t0001g0102
a0002c0001t0004g0025
 2 HG00733.hp1
HG02922.hp2
HG00733.hp1
HG02922.hp2
 intron_variant MODIFIER c.2119+3068C>T
c.2119+3068C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51391313
chr1:51391353 T
T
 C
C
 4 a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0016
others(1): Show 
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0016
a0002c0014t0002g0010
 4 HG02486.hp2
HG02922.hp1
HG02970.hp2
others(1): Show 
HG02486.hp2
HG02922.hp1
HG02970.hp2
NA18522.hp1
 intron_variant MODIFIER c.2119+3028A>G
c.2119+3028A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51391353
chr1:51391455 T
T
 TAATAA
TAATAA
 16 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(13): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0004t0002g0007
a0002c0004t0002g0008
a0010c0013t0001g0063
 16 HG00733.hp2
HG00735.hp1
HG00738.hp1
others(13): Show 
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01192.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG02109.hp1
HG02723.hp2
HG02922.hp2
HG02970.hp1
HG06807.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2119+2921_2119+292
others(9): Show 
c.2119+2921_2119+2925dupTTATT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51391455
chr1:51391455 T
T
 TAATAAAA
others(3): Show 
TAATAAAATAA
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.2119+2916_2119+292
others(14): Show 
c.2119+2916_2119+2925dupTTATTTTATT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51391455
chr1:51391455 T
T
 TAATAAAA
others(8): Show 
TAATAAAATAAAATAA
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.2119+2911_2119+292
others(19): Show 
c.2119+2911_2119+2925dupTTATTTTATTTTATT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51391455
chr1:51391455 TAATAA
TAATAA
 T
T
 5 a0002c0001t0004g0040
a0002c0001t0009g0116
a0002c0001t0009g0117
others(2): Show 
a0002c0001t0004g0040
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 5 HG00735.hp2
HG03453.hp2
HG03491.hp1
others(2): Show 
HG00735.hp2
HG03453.hp2
HG03491.hp1
HG03492.hp2
NA19030.hp2
 intron_variant MODIFIER c.2119+2921_2119+292
others(9): Show 
c.2119+2921_2119+2925delTTATT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51391455
chr1:51391455 TAATAAAA
others(3): Show 
TAATAAAATAA
 T
T
 2 a0001c0002t0017g0032
a0002c0001t0022g0115
a0001c0002t0017g0032
a0002c0001t0022g0115
 2 HG02717.hp1
HG06807.hp1
HG02717.hp1
HG06807.hp1
 intron_variant MODIFIER c.2119+2916_2119+292
others(14): Show 
c.2119+2916_2119+2925delTTATTTTATT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51391455
chr1:51391455 TAATAAAA
others(8): Show 
TAATAAAATAAAATAA
 T
T
 9 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(6): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0007c0009t0015g0125
 9 HG02257.hp1
HG02572.hp1
HG03041.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.2119+2911_2119+292
others(19): Show 
c.2119+2911_2119+2925delTTATTTTATTTTATT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51391455
chr1:51391626 T
T
 C
C
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2119+2755A>G
c.2119+2755A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51391626
chr1:51391709 A
A
 G
G
 1 a0001c0002t0001g0051
a0001c0002t0001g0051
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.2119+2672T>C
c.2119+2672T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51391709
chr1:51391729 A
A
 G
G
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.2119+2652T>C
c.2119+2652T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51391729
chr1:51391835 C
C
 G
G
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2119+2546G>C
c.2119+2546G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51391835
chr1:51392245 T
T
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2119+2136A>G
c.2119+2136A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51392245
chr1:51392314 A
A
 C
C
 1 a0001c0002t0001g0064
a0001c0002t0001g0064
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.2119+2067T>G
c.2119+2067T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51392314
chr1:51392336 T
T
 C
C
 2 a0002c0001t0012g0001
a0002c0001t0012g0003
a0002c0001t0012g0001
a0002c0001t0012g0003
 2 HG02257.hp1
HG03139.hp2
HG02257.hp1
HG03139.hp2
 intron_variant MODIFIER c.2119+2045A>G
c.2119+2045A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51392336
chr1:51392386 C
C
 A
A
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2119+1995G>T
c.2119+1995G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51392386
chr1:51392582 A
A
 T
T
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.2119+1799T>A
c.2119+1799T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51392582
chr1:51392747 C
C
 T
T
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2119+1634G>A
c.2119+1634G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51392747
chr1:51392778 C
C
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2119+1603G>A
c.2119+1603G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51392778
chr1:51392779 G
G
 A
A
 1 a0002c0001t0005g0150
a0002c0001t0005g0150
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.2119+1602C>T
c.2119+1602C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51392779
chr1:51392786 C
C
 T
T
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.2119+1595G>A
c.2119+1595G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51392786
chr1:51392830 T
T
 C
C
 1 a0002c0001t0004g0040
a0002c0001t0004g0040
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.2119+1551A>G
c.2119+1551A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51392830
chr1:51393044 A
A
 G
G
 77 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(74): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 77 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(74): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2119+1337T>C
c.2119+1337T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51393044
chr1:51393225 C
C
 CT
CT
 8 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(5): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0124
 8 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(5): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2119+1155dupA
c.2119+1155dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51393225
chr1:51393242 A
A
 T
T
 1 a0002c0001t0010g0044
a0002c0001t0010g0044
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.2119+1139T>A
c.2119+1139T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51393242
chr1:51393491 C
C
 T
T
 1 a0001c0003t0001g0101
a0001c0003t0001g0101
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.2119+890G>A
c.2119+890G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51393491
chr1:51393570 C
C
 T
T
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.2119+811G>A
c.2119+811G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51393570
chr1:51393615 C
C
 T
T
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.2119+766G>A
c.2119+766G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51393615
chr1:51393773 T
T
 C
C
 3 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
 3 HG00642.hp1
HG01257.hp2
NA20129.hp2
HG00642.hp1
HG01257.hp2
NA20129.hp2
 intron_variant MODIFIER c.2119+608A>G
c.2119+608A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 21/24 chr1 51393773
chr1:51394604 C
C
 G
G
 1 a0001c0002t0001g0091
a0001c0002t0001g0091
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.2053-157G>C
c.2053-157G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51394604
chr1:51394654 C
C
 A
A
 1 a0001c0003t0001g0102
a0001c0003t0001g0102
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.2053-207G>T
c.2053-207G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51394654
chr1:51394768 T
T
 C
C
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.2053-321A>G
c.2053-321A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51394768
chr1:51394816 T
T
 C
C
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2053-369A>G
c.2053-369A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51394816
chr1:51394868 A
A
 G
G
 2 a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0006g0034
a0002c0001t0006g0035
 2 HG03098.hp1
NA18906.hp2
HG03098.hp1
NA18906.hp2
 intron_variant MODIFIER c.2053-421T>C
c.2053-421T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51394868
chr1:51395007 C
C
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2053-560G>A
c.2053-560G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51395007
chr1:51395118 T
T
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.2053-671A>G
c.2053-671A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51395118
chr1:51395438 T
T
 C
C
 4 a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
others(1): Show 
a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
 4 HG00639.hp2
HG02647.hp1
HG02818.hp2
others(1): Show 
HG00639.hp2
HG02647.hp1
HG02818.hp2
HG03471.hp1
 intron_variant MODIFIER c.2053-991A>G
c.2053-991A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51395438
chr1:51395487 C
C
 T
T
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2053-1040G>A
c.2053-1040G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51395487
chr1:51395523 T
T
 TAC
TAC
 14 a0001c0002t0001g0111
a0001c0003t0001g0066
a0001c0003t0001g0067
others(11): Show 
a0001c0002t0001g0111
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0102
a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0006t0001g0104
a0001c0006t0001g0112
 14 HG00733.hp1
HG00738.hp2
HG00741.hp1
others(11): Show 
HG00733.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp2
HG01192.hp2
HG01346.hp2
HG01515.hp1
HG01516.hp2
HG02615.hp2
HG02735.hp1
HG03540.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp2
 intron_variant MODIFIER c.2053-1078_2053-107
others(6): Show 
c.2053-1078_2053-1077dupGT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51395523
chr1:51395652 A
A
 G
G
 1 a0001c0002t0001g0085
a0001c0002t0001g0085
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.2053-1205T>C
c.2053-1205T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51395652
chr1:51395698 T
T
 C
C
 1 a0001c0002t0001g0064
a0001c0002t0001g0064
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.2053-1251A>G
c.2053-1251A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51395698
chr1:51395838 G
G
 A
A
 5 a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0095
others(2): Show 
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0098
 5 HG00741.hp1
HG01074.hp2
HG02735.hp1
others(2): Show 
HG00741.hp1
HG01074.hp2
HG02735.hp1
HG03540.hp2
HG04204.hp2
 intron_variant MODIFIER c.2053-1391C>T
c.2053-1391C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51395838
chr1:51395873 T
T
 C
C
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2053-1426A>G
c.2053-1426A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51395873
chr1:51395986 G
G
 A
A
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.2053-1539C>T
c.2053-1539C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51395986
chr1:51396087 C
C
 CT
CT
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.2053-1641dupA
c.2053-1641dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51396087
chr1:51396151 CACTA
CACTA
 C
C
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2053-1708_2053-170
others(8): Show 
c.2053-1708_2053-1705delTAGT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51396151
chr1:51396211 T
T
 C
C
 1 a0007c0009t0015g0125
a0007c0009t0015g0125
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.2053-1764A>G
c.2053-1764A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51396211
chr1:51396722 T
T
 G
G
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2053-2275A>C
c.2053-2275A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51396722
chr1:51396742 A
A
 G
G
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.2052+2290T>C
c.2052+2290T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51396742
chr1:51396907 A
A
 C
C
 1 a0001c0002t0002g0031
a0001c0002t0002g0031
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.2052+2125T>G
c.2052+2125T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51396907
chr1:51397045 A
A
 G
G
 1 a0005c0008t0002g0033
a0005c0008t0002g0033
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.2052+1987T>C
c.2052+1987T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51397045
chr1:51397514 T
T
 A
A
 1 a0002c0004t0002g0011
a0002c0004t0002g0011
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.2052+1518A>T
c.2052+1518A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51397514
chr1:51397581 T
T
 C
C
 1 a0002c0001t0014g0037
a0002c0001t0014g0037
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2052+1451A>G
c.2052+1451A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51397581
chr1:51397649 G
G
 A
A
 9 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(6): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
 9 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(6): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2052+1383C>T
c.2052+1383C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51397649
chr1:51397685 C
C
 T
T
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.2052+1347G>A
c.2052+1347G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51397685
chr1:51398023 TTGAG
TTGAG
 T
T
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.2052+1005_2052+100
others(8): Show 
c.2052+1005_2052+1008delCTCA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51398023
chr1:51398054 A
A
 AT
AT
 7 a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0011g0130
others(4): Show 
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 7 HG01109.hp2
HG02559.hp2
HG03098.hp1
others(4): Show 
HG01109.hp2
HG02559.hp2
HG03098.hp1
HG03195.hp1
HG03471.hp2
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.2052+977dupA
c.2052+977dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51398054
chr1:51398122 C
C
 T
T
 14 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(11): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 14 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(11): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.2052+910G>A
c.2052+910G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51398122
chr1:51398515 CACCAGT
CACCAGT
 C
C
 9 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(6): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0007c0009t0015g0125
 9 HG02257.hp1
HG02572.hp1
HG03041.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.2052+511_2052+516d
others(8): Show 
c.2052+511_2052+516delACTGGT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 20/24 chr1 51398515
chr1:51399505 T
T
 C
C
 14 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(11): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 14 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(11): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.1919-340A>G
c.1919-340A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 19/24 chr1 51399505
chr1:51399526 G
G
 A
A
 2 a0002c0001t0012g0001
a0002c0001t0012g0003
a0002c0001t0012g0001
a0002c0001t0012g0003
 2 HG02257.hp1
HG03139.hp2
HG02257.hp1
HG03139.hp2
 intron_variant MODIFIER c.1919-361C>T
c.1919-361C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 19/24 chr1 51399526
chr1:51399633 C
C
 T
T
 5 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(2): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0016g0027
 5 HG02572.hp1
HG03041.hp1
HG03098.hp1
others(2): Show 
HG02572.hp1
HG03041.hp1
HG03098.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.1919-468G>A
c.1919-468G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 19/24 chr1 51399633
chr1:51399731 C
C
 T
T
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.1919-566G>A
c.1919-566G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 19/24 chr1 51399731
chr1:51399861 A
A
 C
C
 3 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
 3 HG00642.hp1
HG01257.hp2
NA20129.hp2
HG00642.hp1
HG01257.hp2
NA20129.hp2
 intron_variant MODIFIER c.1919-696T>G
c.1919-696T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 19/24 chr1 51399861
chr1:51400180 C
C
 A
A
 3 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
 3 HG00642.hp1
HG01257.hp2
NA20129.hp2
HG00642.hp1
HG01257.hp2
NA20129.hp2
 intron_variant MODIFIER c.1918+738G>T
c.1918+738G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 19/24 chr1 51400180
chr1:51400305 T
T
 C
C
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.1918+613A>G
c.1918+613A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 19/24 chr1 51400305
chr1:51400702 C
C
 CA
CA
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1918+215dupT
c.1918+215dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 19/24 chr1 51400702
chr1:51400712 C
C
 CA
CA
 34 a0001c0002t0001g0080
a0001c0002t0001g0088
a0001c0002t0003g0058
others(31): Show 
a0001c0002t0001g0080
a0001c0002t0001g0088
a0001c0002t0003g0058
a0001c0002t0003g0069
a0001c0002t0020g0050
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0023
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0007t0010g0043
a0003c0005t0001g0057
a0007c0009t0015g0125
 34 HG00639.hp1
HG00735.hp1
HG01109.hp1
others(31): Show 
HG00639.hp1
HG00735.hp1
HG01109.hp1
HG01192.hp1
HG01257.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02738.hp1
HG02818.hp1
HG02976.hp2
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA19043.hp2
NA19240.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1918+205dupT
c.1918+205dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 19/24 chr1 51400712
chr1:51400712 C
C
 CAA
CAA
 9 a0002c0001t0004g0022
a0002c0001t0004g0024
a0002c0001t0004g0025
others(6): Show 
a0002c0001t0004g0022
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0005g0141
a0002c0001t0005g0149
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0009g0116
a0002c0001t0022g0115
 9 HG00733.hp2
HG02922.hp2
HG03098.hp1
others(6): Show 
HG00733.hp2
HG02922.hp2
HG03098.hp1
HG03139.hp1
HG03486.hp2
HG06807.hp1
NA18906.hp2
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.1918+204_1918+205d
others(4): Show 
c.1918+204_1918+205dupTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 19/24 chr1 51400712
chr1:51400712 C
C
 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 4 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(1): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
 4 HG02559.hp2
HG03195.hp1
HG03471.hp2
others(1): Show 
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1918+196_1918+205d
others(12): Show 
c.1918+196_1918+205dupTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 19/24 chr1 51400712
chr1:51400712 C
C
 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 1 a0006c0010t0026g0129
a0006c0010t0026g0129
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.1918+195_1918+205d
others(13): Show 
c.1918+195_1918+205dupTTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 19/24 chr1 51400712
chr1:51400712 C
C
 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 1 a0002c0001t0008g0122
a0002c0001t0008g0122
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.1918+194_1918+205d
others(14): Show 
c.1918+194_1918+205dupTTTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 19/24 chr1 51400712
chr1:51400712 C
C
 CAAAAAAA
others(6): Show 
CAAAAAAAAAAAAA
 1 a0002c0001t0008g0123
a0002c0001t0008g0123
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1918+193_1918+205d
others(15): Show 
c.1918+193_1918+205dupTTTTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 19/24 chr1 51400712
chr1:51400712 C
C
 CAAAAAAA
others(8): Show 
CAAAAAAAAAAAAAAA
 2 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0120
a0002c0001t0008g0121
 2 HG01516.hp1
HG01517.hp1
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.1918+191_1918+205d
others(17): Show 
c.1918+191_1918+205dupTTTTTTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 19/24 chr1 51400712
chr1:51400712 CAAAAA
CAAAAA
 C
C
 5 a0002c0004t0002g0006
a0002c0004t0002g0011
a0002c0004t0002g0012
others(2): Show 
a0002c0004t0002g0006
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0016
a0002c0014t0002g0010
 5 HG01891.hp1
HG02486.hp2
HG02922.hp1
others(2): Show 
HG01891.hp1
HG02486.hp2
HG02922.hp1
HG02970.hp2
NA18522.hp1
 intron_variant MODIFIER c.1918+201_1918+205d
others(7): Show 
c.1918+201_1918+205delTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 19/24 chr1 51400712
chr1:51400712 CAAAAAA
CAAAAAA
 C
C
 7 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0009
others(4): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0009
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0137
 7 HG01167.hp2
HG01346.hp1
HG02735.hp2
others(4): Show 
HG01167.hp2
HG01346.hp1
HG02735.hp2
HG02738.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
 intron_variant MODIFIER c.1918+200_1918+205d
others(8): Show 
c.1918+200_1918+205delTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 19/24 chr1 51400712
chr1:51400789 ACT
ACT
 A
A
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1918+127_1918+128d
others(4): Show 
c.1918+127_1918+128delAG
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 19/24 chr1 51400789
chr1:51401097 T
T
 C
C
 2 a0001c0003t0001g0100
a0001c0003t0001g0109
a0001c0003t0001g0100
a0001c0003t0001g0109
 2 HG01074.hp1
HG01168.hp1
HG01074.hp1
HG01168.hp1
 intron_variant MODIFIER c.1883-144A>G
c.1883-144A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 18/24 chr1 51401097
chr1:51401154 G
G
 A
A
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1883-201C>T
c.1883-201C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 18/24 chr1 51401154
chr1:51401421 C
C
 T
T
 2 a0001c0002t0001g0079
a0001c0002t0020g0050
a0001c0002t0001g0079
a0001c0002t0020g0050
 2 HG01168.hp2
HG02738.hp1
HG01168.hp2
HG02738.hp1
 intron_variant MODIFIER c.1883-468G>A
c.1883-468G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 18/24 chr1 51401421
chr1:51401547 T
T
 C
C
 1 a0002c0001t0004g0040
a0002c0001t0004g0040
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1883-594A>G
c.1883-594A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 18/24 chr1 51401547
chr1:51401840 T
T
 C
C
 3 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
 3 HG00642.hp1
HG01257.hp2
NA20129.hp2
HG00642.hp1
HG01257.hp2
NA20129.hp2
 intron_variant MODIFIER c.1882+595A>G
c.1882+595A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 18/24 chr1 51401840
chr1:51401879 C
C
 T
T
 2 a0002c0001t0012g0001
a0002c0001t0012g0003
a0002c0001t0012g0001
a0002c0001t0012g0003
 2 HG02257.hp1
HG03139.hp2
HG02257.hp1
HG03139.hp2
 intron_variant MODIFIER c.1882+556G>A
c.1882+556G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 18/24 chr1 51401879
chr1:51401889 A
A
 G
G
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.1882+546T>C
c.1882+546T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 18/24 chr1 51401889
chr1:51401901 G
G
 A
A
 1 a0001c0002t0001g0128
a0001c0002t0001g0128
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.1882+534C>T
c.1882+534C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 18/24 chr1 51401901
chr1:51402085 C
C
 T
T
 1 a0001c0003t0001g0100
a0001c0003t0001g0100
 1 HG01168.hp1
HG01168.hp1
 intron_variant MODIFIER c.1882+350G>A
c.1882+350G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 18/24 chr1 51402085
chr1:51402169 C
C
 CACATACA
others(9): Show 
CACATACATACATACAT
 8 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(5): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 8 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(5): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1882+250_1882+265d
others(18): Show 
c.1882+250_1882+265dupATGTATGTATGTATGT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 18/24 chr1 51402169
chr1:51402391 C
C
 CT
CT
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.1882+43dupA
c.1882+43dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 18/24 chr1 51402391
chr1:51402864 T
T
 C
C
 77 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(74): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 77 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(74): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1792-339A>G
c.1792-339A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 17/24 chr1 51402864
chr1:51403000 A
A
 G
G
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1791+419T>C
c.1791+419T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 17/24 chr1 51403000
chr1:51403061 G
G
 C
C
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1791+358C>G
c.1791+358C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 17/24 chr1 51403061
chr1:51403204 T
T
 G
G
 1 a0002c0001t0004g0025
a0002c0001t0004g0025
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.1791+215A>C
c.1791+215A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 17/24 chr1 51403204
chr1:51403332 T
T
 C
C
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.1791+87A>G
c.1791+87A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 17/24 chr1 51403332
chr1:51403576 C
C
 T
T
 16 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(13): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 16 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(13): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02109.hp2
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG03209.hp2
HG03453.hp2
NA19240.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1678-44G>A
c.1678-44G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 16/24 chr1 51403576
chr1:51403986 G
G
 A
A
 2 a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0126
a0001c0002t0001g0127
 2 HG00438.hp1
NA18747.hp1
HG00438.hp1
NA18747.hp1
 intron_variant MODIFIER c.1678-454C>T
c.1678-454C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 16/24 chr1 51403986
chr1:51404069 G
G
 A
A
 1 a0007c0009t0015g0125
a0007c0009t0015g0125
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.1678-537C>T
c.1678-537C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 16/24 chr1 51404069
chr1:51404106 G
G
 C
C
 21 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(18): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0022g0115
a0002c0007t0010g0043
 21 HG00733.hp2
HG00735.hp1
HG00735.hp2
others(18): Show 
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02109.hp2
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG03209.hp2
HG03453.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
NA19240.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1678-574C>G
c.1678-574C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 16/24 chr1 51404106
chr1:51404107 GAGGCCGA
others(3): Show 
GAGGCCGAGGC
 G
G
 4 a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
others(1): Show 
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0007c0009t0015g0125
 4 HG02257.hp1
HG03139.hp2
HG03486.hp1
others(1): Show 
HG02257.hp1
HG03139.hp2
HG03486.hp1
NA19043.hp2
 intron_variant MODIFIER c.1678-585_1678-576d
others(12): Show 
c.1678-585_1678-576delGCCTCGGCCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 16/24 chr1 51404107
chr1:51404156 C
C
 A
A
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.1678-624G>T
c.1678-624G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 16/24 chr1 51404156
chr1:51404174 G
G
 A
A
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.1678-642C>T
c.1678-642C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 16/24 chr1 51404174
chr1:51404377 C
C
 CA
CA
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1678-846dupT
c.1678-846dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 16/24 chr1 51404377
chr1:51404377 CA
CA
 C
C
 9 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(6): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0007c0009t0015g0125
 9 HG02257.hp1
HG02572.hp1
HG03041.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.1678-846delT
c.1678-846delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 16/24 chr1 51404377
chr1:51404403 C
C
 A
A
 7 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
others(4): Show 
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 7 HG02109.hp2
HG02630.hp1
HG02717.hp2
others(4): Show 
HG02109.hp2
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG03209.hp2
HG03453.hp2
NA19240.hp2
 intron_variant MODIFIER c.1678-871G>T
c.1678-871G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 16/24 chr1 51404403
chr1:51404853 A
A
 G
G
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1677+1052T>C
c.1677+1052T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 16/24 chr1 51404853
chr1:51405057 A
A
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1677+848T>G
c.1677+848T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 16/24 chr1 51405057
chr1:51405348 T
T
 A
A
 2 a0002c0001t0009g0116
a0002c0001t0022g0115
a0002c0001t0009g0116
a0002c0001t0022g0115
 2 HG06807.hp1
NA19030.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.1677+557A>T
c.1677+557A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 16/24 chr1 51405348
chr1:51405348 TA
TA
 T
T
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.1677+556delT
c.1677+556delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 16/24 chr1 51405348
chr1:51405469 G
G
 T
T
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.1677+436C>A
c.1677+436C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 16/24 chr1 51405469
chr1:51405489 G
G
 A
A
 1 a0002c0001t0009g0116
a0002c0001t0009g0116
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1677+416C>T
c.1677+416C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 16/24 chr1 51405489
chr1:51405505 T
T
 G
G
 2 a0001c0003t0001g0053
a0001c0003t0001g0089
a0001c0003t0001g0053
a0001c0003t0001g0089
 2 HG00642.hp2
HG02258.hp1
HG00642.hp2
HG02258.hp1
 intron_variant MODIFIER c.1677+400A>C
c.1677+400A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 16/24 chr1 51405505
chr1:51405699 C
C
 CA
CA
 31 a0001c0002t0001g0051
a0001c0002t0001g0056
a0001c0002t0001g0072
others(28): Show 
a0001c0002t0001g0051
a0001c0002t0001g0056
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0088
a0001c0002t0001g0111
a0001c0002t0013g0062
a0001c0002t0013g0065
a0001c0002t0017g0032
a0001c0002t0019g0055
a0001c0002t0020g0050
a0001c0003t0001g0099
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 31 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(28): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00741.hp2
HG01167.hp2
HG01168.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01891.hp1
HG01952.hp1
HG02486.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03492.hp1
HG03654.hp1
HG03688.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp2
NA19011.hp1
NA20752.hp1
 intron_variant MODIFIER c.1677+205dupT
c.1677+205dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 16/24 chr1 51405699
chr1:51405699 CA
CA
 C
C
 7 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
others(4): Show 
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 7 HG02109.hp2
HG02630.hp1
HG02717.hp2
others(4): Show 
HG02109.hp2
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG03209.hp2
HG03453.hp2
NA19240.hp2
 intron_variant MODIFIER c.1677+205delT
c.1677+205delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 16/24 chr1 51405699
chr1:51405766 G
G
 GACTC
GACTC
 73 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(70): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 73 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(70): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1677+135_1677+138d
others(6): Show 
c.1677+135_1677+138dupGAGT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 16/24 chr1 51405766
chr1:51405896 T
T
 TA
TA
 8 a0001c0002t0001g0052
a0001c0002t0003g0058
a0001c0002t0003g0059
others(5): Show 
a0001c0002t0001g0052
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0003g0061
a0001c0002t0003g0074
a0001c0002t0003g0075
a0001c0002t0003g0106
 8 HG02055.hp1
HG02145.hp1
HG02451.hp1
others(5): Show 
HG02055.hp1
HG02145.hp1
HG02451.hp1
HG02559.hp1
HG02723.hp1
HG03098.hp2
NA20129.hp1
NA20300.hp2
 splice_region_variant&intron_variant LOW c.1677+8dupT
c.1677+8dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 16/24 chr1 51405896
chr1:51406193 G
G
 A
A
 1 a0001c0002t0001g0087
a0001c0002t0001g0087
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.1474-85C>T
c.1474-85C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 15/24 chr1 51406193
chr1:51406294 G
G
 A
A
 1 a0001c0003t0001g0101
a0001c0003t0001g0101
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.1474-186C>T
c.1474-186C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 15/24 chr1 51406294
chr1:51406450 C
C
 T
T
 1 a0002c0004t0002g0016
a0002c0004t0002g0016
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1474-342G>A
c.1474-342G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 15/24 chr1 51406450
chr1:51406485 T
T
 G
G
 2 a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0007
a0002c0004t0002g0008
 2 HG02723.hp2
HG06807.hp2
HG02723.hp2
HG06807.hp2
 intron_variant MODIFIER c.1474-377A>C
c.1474-377A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 15/24 chr1 51406485
chr1:51406499 C
C
 A
A
 2 a0002c0001t0012g0001
a0002c0001t0012g0003
a0002c0001t0012g0001
a0002c0001t0012g0003
 2 HG02257.hp1
HG03139.hp2
HG02257.hp1
HG03139.hp2
 intron_variant MODIFIER c.1474-391G>T
c.1474-391G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 15/24 chr1 51406499
chr1:51406884 A
A
 G
G
 7 a0002c0001t0005g0138
a0002c0001t0005g0141
a0002c0001t0005g0143
others(4): Show 
a0002c0001t0005g0138
a0002c0001t0005g0141
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
 7 HG01109.hp1
HG01884.hp2
HG01891.hp2
others(4): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp2
HG02615.hp1
HG03139.hp1
HG03486.hp2
NA19030.hp1
 intron_variant MODIFIER c.1474-776T>C
c.1474-776T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 15/24 chr1 51406884
chr1:51407572 T
T
 C
C
 2 a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0014g0036
a0002c0001t0014g0037
 2 HG02451.hp2
HG02976.hp2
HG02451.hp2
HG02976.hp2
 intron_variant MODIFIER c.1473+563A>G
c.1473+563A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 15/24 chr1 51407572
chr1:51407709 C
C
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1473+426G>A
c.1473+426G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 15/24 chr1 51407709
chr1:51407723 G
G
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1473+412C>A
c.1473+412C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 15/24 chr1 51407723
chr1:51408670 A
A
 T
T
 14 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(11): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 14 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(11): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.1276-338T>A
c.1276-338T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 14/24 chr1 51408670
chr1:51408797 A
A
 AT
AT
 60 a0001c0002t0001g0045
a0001c0003t0001g0099
a0002c0001t0004g0038
others(57): Show 
a0001c0002t0001g0045
a0001c0003t0001g0099
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0131
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0014
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
a0010c0013t0001g0063
 60 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(57): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01257.hp2
HG01261.hp1
HG01346.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.1276-466dupA
c.1276-466dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 14/24 chr1 51408797
chr1:51408797 A
A
 ATT
ATT
 13 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(10): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
a0002c0001t0005g0144
a0002c0001t0011g0130
a0002c0001t0024g0145
a0002c0004t0002g0015
 13 HG00733.hp2
HG00735.hp1
HG01175.hp1
others(10): Show 
HG00733.hp2
HG00735.hp1
HG01175.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02615.hp1
HG02922.hp2
HG03195.hp2
HG03471.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1276-467_1276-466d
others(4): Show 
c.1276-467_1276-466dupAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 14/24 chr1 51408797
chr1:51408797 AT
AT
 A
A
 5 a0001c0003t0001g0067
a0001c0003t0001g0096
a0001c0003t0001g0098
others(2): Show 
a0001c0003t0001g0067
a0001c0003t0001g0096
a0001c0003t0001g0098
a0001c0003t0001g0109
a0001c0003t0001g0110
 5 HG01074.hp1
HG01074.hp2
HG01167.hp1
others(2): Show 
HG01074.hp1
HG01074.hp2
HG01167.hp1
HG02735.hp1
HG04204.hp2
 intron_variant MODIFIER c.1276-466delA
c.1276-466delA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 14/24 chr1 51408797
chr1:51408907 C
C
 A
A
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1276-575G>T
c.1276-575G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 14/24 chr1 51408907
chr1:51408920 C
C
 T
T
 2 a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0006g0034
a0002c0001t0006g0035
 2 HG03098.hp1
NA18906.hp2
HG03098.hp1
NA18906.hp2
 intron_variant MODIFIER c.1276-588G>A
c.1276-588G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 14/24 chr1 51408920
chr1:51408949 G
G
 A
A
 2 a0002c0001t0009g0116
a0002c0001t0022g0115
a0002c0001t0009g0116
a0002c0001t0022g0115
 2 HG06807.hp1
NA19030.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.1275+586C>T
c.1275+586C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 14/24 chr1 51408949
chr1:51408956 C
C
 A
A
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.1275+579G>T
c.1275+579G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 14/24 chr1 51408956
chr1:51408973 T
T
 G
G
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.1275+562A>C
c.1275+562A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 14/24 chr1 51408973
chr1:51409094 T
T
 C
C
 1 a0001c0002t0003g0075
a0001c0002t0003g0075
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.1275+441A>G
c.1275+441A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 14/24 chr1 51409094
chr1:51409188 T
T
 C
C
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.1275+347A>G
c.1275+347A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 14/24 chr1 51409188
chr1:51409315 C
C
 G
G
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.1275+220G>C
c.1275+220G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 14/24 chr1 51409315
chr1:51409363 A
A
 G
G
 2 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0002g0030
a0001c0002t0002g0031
 2 HG02630.hp2
NA19240.hp1
HG02630.hp2
NA19240.hp1
 intron_variant MODIFIER c.1275+172T>C
c.1275+172T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 14/24 chr1 51409363
chr1:51409713 T
T
 A
A
 1 a0005c0008t0002g0033
a0005c0008t0002g0033
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1114-17A>T
c.1114-17A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51409713
chr1:51410042 C
C
 T
T
 1 a0002c0001t0009g0116
a0002c0001t0009g0116
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1114-346G>A
c.1114-346G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51410042
chr1:51410118 A
A
 C
C
 15 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(12): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
a0010c0013t0001g0063
 15 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(12): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.1114-422T>G
c.1114-422T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51410118
chr1:51410133 G
G
 A
A
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.1114-437C>T
c.1114-437C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51410133
chr1:51410172 C
C
 T
T
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1114-476G>A
c.1114-476G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51410172
chr1:51410177 C
C
 T
T
 9 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(6): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
 9 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(6): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1114-481G>A
c.1114-481G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51410177
chr1:51410228 C
C
 CA
CA
 11 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0009g0116
others(8): Show 
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0119
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0022g0115
a0004c0015t0011g0152
a0006c0010t0026g0129
 11 HG00735.hp2
HG01109.hp2
HG02559.hp2
others(8): Show 
HG00735.hp2
HG01109.hp2
HG02559.hp2
HG02630.hp1
HG03195.hp1
HG03471.hp2
HG03492.hp2
HG06807.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.1114-533dupT
c.1114-533dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51410228
chr1:51410305 C
C
 G
G
 4 a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
others(1): Show 
a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
 4 HG00639.hp2
HG02647.hp1
HG02818.hp2
others(1): Show 
HG00639.hp2
HG02647.hp1
HG02818.hp2
HG03471.hp1
 intron_variant MODIFIER c.1114-609G>C
c.1114-609G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51410305
chr1:51410310 G
G
 A
A
 1 a0002c0001t0004g0025
a0002c0001t0004g0025
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.1114-614C>T
c.1114-614C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51410310
chr1:51410392 C
C
 CA
CA
 12 a0001c0002t0001g0084
a0001c0002t0013g0062
a0001c0003t0001g0066
others(9): Show 
a0001c0002t0001g0084
a0001c0002t0013g0062
a0001c0003t0001g0066
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0098
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0009g0117
a0002c0001t0009g0119
a0009c0012t0007g0136
 12 HG00642.hp1
HG00735.hp2
HG00741.hp1
others(9): Show 
HG00642.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01257.hp2
HG01261.hp2
HG02735.hp1
HG03130.hp1
HG03492.hp2
HG03540.hp2
HG04204.hp2
NA20129.hp2
 intron_variant MODIFIER c.1114-697dupT
c.1114-697dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51410392
chr1:51410392 C
C
 CAA
CAA
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.1114-698_1114-697d
others(4): Show 
c.1114-698_1114-697dupTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51410392
chr1:51410491 G
G
 C
C
 2 a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0046
a0001c0002t0001g0047
 2 HG02647.hp1
HG03471.hp1
HG02647.hp1
HG03471.hp1
 intron_variant MODIFIER c.1114-795C>G
c.1114-795C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51410491
chr1:51410531 AT
AT
 A
A
 3 a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0007t0010g0043
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0007t0010g0043
 3 HG02109.hp2
HG02717.hp2
HG03209.hp2
HG02109.hp2
HG02717.hp2
HG03209.hp2
 intron_variant MODIFIER c.1114-836delA
c.1114-836delA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51410531
chr1:51410674 C
C
 T
T
 2 a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0014g0036
a0002c0001t0014g0037
 2 HG02451.hp2
HG02976.hp2
HG02451.hp2
HG02976.hp2
 intron_variant MODIFIER c.1114-978G>A
c.1114-978G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51410674
chr1:51410711 A
A
 G
G
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1114-1015T>C
c.1114-1015T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51410711
chr1:51410827 T
T
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1114-1131A>G
c.1114-1131A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51410827
chr1:51410882 G
G
 C
C
 1 a0002c0001t0009g0116
a0002c0001t0009g0116
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1114-1186C>G
c.1114-1186C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51410882
chr1:51411077 C
C
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1114-1381G>A
c.1114-1381G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51411077
chr1:51411110 T
T
 C
C
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.1114-1414A>G
c.1114-1414A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51411110
chr1:51411258 G
G
 T
T
 2 a0001c0002t0003g0075
a0001c0002t0003g0106
a0001c0002t0003g0075
a0001c0002t0003g0106
 2 HG02559.hp1
HG02723.hp1
HG02559.hp1
HG02723.hp1
 intron_variant MODIFIER c.1114-1562C>A
c.1114-1562C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51411258
chr1:51411799 C
C
 T
T
 1 a0001c0002t0003g0074
a0001c0002t0003g0074
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.1114-2103G>A
c.1114-2103G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51411799
chr1:51411800 G
G
 A
A
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1114-2104C>T
c.1114-2104C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51411800
chr1:51411918 T
T
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1114-2222A>G
c.1114-2222A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51411918
chr1:51412042 C
C
 G
G
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1114-2346G>C
c.1114-2346G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51412042
chr1:51412996 G
G
 A
A
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1114-3300C>T
c.1114-3300C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51412996
chr1:51413080 T
T
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1114-3384A>T
c.1114-3384A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51413080
chr1:51413113 T
T
 C
C
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.1114-3417A>G
c.1114-3417A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51413113
chr1:51413197 A
A
 T
T
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.1114-3501T>A
c.1114-3501T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51413197
chr1:51413322 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1114-3626C>T
c.1114-3626C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51413322
chr1:51413361 A
A
 G
G
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.1114-3665T>C
c.1114-3665T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51413361
chr1:51413441 A
A
 G
G
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1114-3745T>C
c.1114-3745T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51413441
chr1:51413610 C
C
 T
T
 1 a0001c0002t0001g0072
a0001c0002t0001g0072
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.1114-3914G>A
c.1114-3914G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51413610
chr1:51413727 T
T
 C
C
 4 a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
others(1): Show 
a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
 4 HG00639.hp2
HG02647.hp1
HG02818.hp2
others(1): Show 
HG00639.hp2
HG02647.hp1
HG02818.hp2
HG03471.hp1
 intron_variant MODIFIER c.1114-4031A>G
c.1114-4031A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51413727
chr1:51413893 C
C
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1114-4197G>T
c.1114-4197G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51413893
chr1:51413965 G
G
 A
A
 2 a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0020
a0002c0001t0004g0021
 2 HG01515.hp2
HG01517.hp2
HG01515.hp2
HG01517.hp2
 intron_variant MODIFIER c.1114-4269C>T
c.1114-4269C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51413965
chr1:51413996 C
C
 T
T
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1114-4300G>A
c.1114-4300G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51413996
chr1:51414002 G
G
 T
T
 2 a0002c0001t0009g0116
a0002c0001t0022g0115
a0002c0001t0009g0116
a0002c0001t0022g0115
 2 HG06807.hp1
NA19030.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.1114-4306C>A
c.1114-4306C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51414002
chr1:51414182 C
C
 T
T
 1 a0001c0002t0001g0084
a0001c0002t0001g0084
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.1114-4486G>A
c.1114-4486G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51414182
chr1:51414299 G
G
 A
A
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.1114-4603C>T
c.1114-4603C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51414299
chr1:51414403 T
T
 A
A
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.1114-4707A>T
c.1114-4707A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51414403
chr1:51414615 T
T
 C
C
 3 a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
 3 HG02257.hp1
HG03139.hp2
NA19043.hp2
HG02257.hp1
HG03139.hp2
NA19043.hp2
 intron_variant MODIFIER c.1114-4919A>G
c.1114-4919A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51414615
chr1:51414687 G
G
 C
C
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.1114-4991C>G
c.1114-4991C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51414687
chr1:51415530 C
C
 T
T
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.1114-5834G>A
c.1114-5834G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51415530
chr1:51415568 T
T
 C
C
 1 a0001c0002t0001g0072
a0001c0002t0001g0072
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.1114-5872A>G
c.1114-5872A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51415568
chr1:51415581 G
G
 C
C
 4 a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
others(1): Show 
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 4 HG02109.hp2
HG02717.hp2
HG02818.hp1
others(1): Show 
HG02109.hp2
HG02717.hp2
HG02818.hp1
HG03209.hp2
 intron_variant MODIFIER c.1114-5885C>G
c.1114-5885C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51415581
chr1:51415685 A
A
 G
G
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1114-5989T>C
c.1114-5989T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51415685
chr1:51415691 G
G
 A
A
 3 a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0007t0010g0043
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0007t0010g0043
 3 HG02109.hp2
HG02717.hp2
HG03209.hp2
HG02109.hp2
HG02717.hp2
HG03209.hp2
 intron_variant MODIFIER c.1114-5995C>T
c.1114-5995C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51415691
chr1:51415792 G
G
 A
A
 1 a0005c0008t0002g0033
a0005c0008t0002g0033
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1113+5994C>T
c.1113+5994C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51415792
chr1:51415796 CA
CA
 C
C
 21 a0001c0002t0001g0056
a0001c0002t0001g0064
a0001c0002t0001g0079
others(18): Show 
a0001c0002t0001g0056
a0001c0002t0001g0064
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0003g0061
a0001c0002t0003g0069
a0001c0002t0003g0070
a0001c0002t0003g0074
a0001c0002t0003g0075
a0001c0002t0003g0076
a0001c0003t0001g0097
a0001c0003t0001g0100
a0001c0006t0001g0104
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0123
a0003c0005t0001g0017
a0003c0005t0001g0057
a0010c0013t0001g0063
 21 HG00639.hp1
HG00738.hp1
HG01168.hp1
others(18): Show 
HG00639.hp1
HG00738.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01257.hp1
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG02559.hp1
HG02647.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp2
HG03688.hp1
HG04199.hp2
NA18906.hp1
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.1113+5989delT
c.1113+5989delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51415796
chr1:51415796 CAA
CAA
 C
C
 40 a0001c0002t0001g0051
a0001c0002t0001g0052
a0001c0002t0001g0078
others(37): Show 
a0001c0002t0001g0051
a0001c0002t0001g0052
a0001c0002t0001g0078
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0086
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0111
a0001c0002t0001g0114
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0002g0031
a0001c0002t0003g0049
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0077
a0001c0002t0003g0106
a0001c0002t0013g0062
a0001c0002t0013g0065
a0001c0002t0020g0050
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0081
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0099
a0001c0003t0001g0101
a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0003t0001g0109
a0001c0003t0001g0110
a0001c0003t0003g0054
a0001c0006t0001g0112
a0002c0001t0005g0139
a0002c0001t0005g0146
a0002c0001t0006g0035
a0002c0001t0014g0036
 40 HG00438.hp1
HG00438.hp2
HG00738.hp2
others(37): Show 
HG00438.hp1
HG00438.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01167.hp1
HG01192.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01952.hp1
HG01952.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02615.hp2
HG02630.hp2
HG02723.hp1
HG02738.hp1
HG02976.hp2
HG03041.hp2
HG03209.hp1
HG03453.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18906.hp2
NA19011.hp1
NA19011.hp2
 intron_variant MODIFIER c.1113+5988_1113+598
others(6): Show 
c.1113+5988_1113+5989delTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51415796
chr1:51415796 CAAA
CAAA
 C
C
 23 a0001c0002t0001g0045
a0001c0002t0001g0072
a0001c0002t0001g0082
others(20): Show 
a0001c0002t0001g0045
a0001c0002t0001g0072
a0001c0002t0001g0082
a0001c0002t0001g0085
a0001c0002t0001g0113
a0001c0002t0001g0126
a0001c0002t0002g0030
a0001c0002t0003g0060
a0001c0002t0018g0105
a0001c0002t0019g0055
a0001c0003t0001g0053
a0001c0003t0001g0090
a0001c0003t0001g0098
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0005g0138
a0002c0001t0005g0142
a0002c0001t0005g0148
a0002c0001t0009g0118
a0002c0001t0014g0037
a0002c0004t0002g0005
a0002c0004t0002g0014
a0008c0011t0025g0140
 23 HG00558.hp1
HG00558.hp2
HG00642.hp2
others(20): Show 
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG01884.hp1
HG02257.hp2
HG02451.hp2
HG02486.hp1
HG02572.hp2
HG02630.hp1
HG02735.hp1
HG02738.hp2
HG03491.hp1
HG03491.hp2
HG04199.hp1
NA18747.hp1
NA18747.hp2
NA18957.hp1
NA18957.hp2
NA19030.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.1113+5987_1113+598
others(7): Show 
c.1113+5987_1113+5989delTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51415796
chr1:51415796 CAAAA
CAAAA
 C
C
 20 a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
others(17): Show 
a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0073
a0001c0002t0017g0032
a0001c0003t0001g0089
a0002c0001t0005g0141
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0034
a0002c0001t0012g0002
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0004t0002g0004
a0002c0014t0002g0010
a0005c0008t0002g0033
 20 HG00639.hp2
HG01109.hp1
HG01346.hp1
others(17): Show 
HG00639.hp2
HG01109.hp1
HG01346.hp1
HG01884.hp2
HG01891.hp2
HG02258.hp1
HG02258.hp2
HG02486.hp2
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02818.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03471.hp1
HG03486.hp2
HG03492.hp1
HG06807.hp1
NA19043.hp2
 intron_variant MODIFIER c.1113+5986_1113+598
others(8): Show 
c.1113+5986_1113+5989delTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51415796
chr1:51415796 CAAAAA
CAAAAA
 C
C
 14 a0002c0001t0006g0028
a0002c0001t0009g0117
a0002c0001t0009g0119
others(11): Show 
a0002c0001t0006g0028
a0002c0001t0009g0117
a0002c0001t0009g0119
a0002c0001t0012g0001
a0002c0001t0012g0003
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
 14 HG00735.hp2
HG01891.hp1
HG02257.hp1
others(11): Show 
HG00735.hp2
HG01891.hp1
HG02257.hp1
HG02572.hp1
HG02723.hp2
HG02735.hp2
HG02922.hp1
HG02970.hp2
HG03139.hp2
HG03195.hp2
HG03492.hp2
HG03654.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.1113+5985_1113+598
others(9): Show 
c.1113+5985_1113+5989delTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51415796
chr1:51415796 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 C
C
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1113+5980_1113+598
others(14): Show 
c.1113+5980_1113+5989delTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51415796
chr1:51415796 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 C
C
 3 a0002c0001t0007g0133
a0002c0001t0007g0134
a0009c0012t0007g0136
a0002c0001t0007g0133
a0002c0001t0007g0134
a0009c0012t0007g0136
 3 HG00642.hp1
HG03130.hp1
NA20129.hp2
HG00642.hp1
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.1113+5979_1113+598
others(15): Show 
c.1113+5979_1113+5989delTTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51415796
chr1:51415796 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 C
C
 1 a0002c0001t0007g0135
a0002c0001t0007g0135
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.1113+5978_1113+598
others(16): Show 
c.1113+5978_1113+5989delTTTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51415796
chr1:51415796 CAAAAAAA
others(11): Show 
CAAAAAAAAAAAAAAAAAA
 C
C
 1 a0002c0001t0009g0116
a0002c0001t0009g0116
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1113+5972_1113+598
others(22): Show 
c.1113+5972_1113+5989delTTTTTTTTTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51415796
chr1:51415796 CAAAAAAA
others(15): Show 
CAAAAAAAAAAAAAAAAAAAAAA
 C
C
 1 a0002c0001t0024g0145
a0002c0001t0024g0145
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.1113+5968_1113+598
others(26): Show 
c.1113+5968_1113+5989delTTTTTTTTTTTTTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51415796
chr1:51415988 A
A
 G
G
 4 a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
others(1): Show 
a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
 4 HG00639.hp2
HG02647.hp1
HG02818.hp2
others(1): Show 
HG00639.hp2
HG02647.hp1
HG02818.hp2
HG03471.hp1
 intron_variant MODIFIER c.1113+5798T>C
c.1113+5798T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51415988
chr1:51416114 G
G
 A
A
 3 a0001c0002t0003g0069
a0001c0002t0003g0070
a0001c0002t0003g0076
a0001c0002t0003g0069
a0001c0002t0003g0070
a0001c0002t0003g0076
 3 HG02647.hp2
HG03130.hp2
NA18906.hp1
HG02647.hp2
HG03130.hp2
NA18906.hp1
 intron_variant MODIFIER c.1113+5672C>T
c.1113+5672C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51416114
chr1:51416216 C
C
 T
T
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.1113+5570G>A
c.1113+5570G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51416216
chr1:51416538 A
A
 C
C
 1 a0002c0001t0014g0036
a0002c0001t0014g0036
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1113+5248T>G
c.1113+5248T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51416538
chr1:51417067 A
A
 G
G
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.1113+4719T>C
c.1113+4719T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51417067
chr1:51417781 T
T
 G
G
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.1113+4005A>C
c.1113+4005A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51417781
chr1:51418499 G
G
 A
A
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1113+3287C>T
c.1113+3287C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51418499
chr1:51418658 A
A
 G
G
 4 a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
others(1): Show 
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0007c0009t0015g0125
 4 HG02257.hp1
HG03139.hp2
HG03486.hp1
others(1): Show 
HG02257.hp1
HG03139.hp2
HG03486.hp1
NA19043.hp2
 intron_variant MODIFIER c.1113+3128T>C
c.1113+3128T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51418658
chr1:51418669 G
G
 C
C
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.1113+3117C>G
c.1113+3117C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51418669
chr1:51418711 T
T
 C
C
 23 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(20): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
a0007c0009t0015g0125
 23 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(20): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02257.hp1
HG02486.hp2
HG02572.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03195.hp2
HG03486.hp1
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.1113+3075A>G
c.1113+3075A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51418711
chr1:51419091 A
A
 C
C
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.1113+2695T>G
c.1113+2695T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51419091
chr1:51419172 C
C
 T
T
 2 a0002c0001t0009g0116
a0002c0001t0022g0115
a0002c0001t0009g0116
a0002c0001t0022g0115
 2 HG06807.hp1
NA19030.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.1113+2614G>A
c.1113+2614G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51419172
chr1:51419213 A
A
 G
G
 1 a0001c0002t0001g0026
a0001c0002t0001g0026
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.1113+2573T>C
c.1113+2573T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51419213
chr1:51419280 C
C
 A
A
 3 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0123
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0123
 3 HG00738.hp1
HG01516.hp1
HG01517.hp1
HG00738.hp1
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.1113+2506G>T
c.1113+2506G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51419280
chr1:51419476 T
T
 C
C
 7 a0002c0001t0005g0138
a0002c0001t0005g0141
a0002c0001t0005g0143
others(4): Show 
a0002c0001t0005g0138
a0002c0001t0005g0141
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
 7 HG01109.hp1
HG01884.hp2
HG01891.hp2
others(4): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp2
HG02615.hp1
HG03139.hp1
HG03486.hp2
NA19030.hp1
 intron_variant MODIFIER c.1113+2310A>G
c.1113+2310A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51419476
chr1:51419690 C
C
 A
A
 1 a0002c0001t0009g0116
a0002c0001t0009g0116
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1113+2096G>T
c.1113+2096G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51419690
chr1:51420371 G
G
 A
A
 1 a0002c0001t0009g0116
a0002c0001t0009g0116
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1113+1415C>T
c.1113+1415C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51420371
chr1:51420746 A
A
 C
C
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1113+1040T>G
c.1113+1040T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51420746
chr1:51420808 C
C
 T
T
 1 a0002c0001t0012g0002
a0002c0001t0012g0002
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1113+978G>A
c.1113+978G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51420808
chr1:51420964 T
T
 C
C
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.1113+822A>G
c.1113+822A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51420964
chr1:51421083 CTAAG
CTAAG
 C
C
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1113+699_1113+702d
others(6): Show 
c.1113+699_1113+702delCTTA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51421083
chr1:51421413 T
T
 TTGA
TTGA
 5 a0001c0003t0001g0090
a0002c0001t0004g0038
a0002c0001t0004g0039
others(2): Show 
a0001c0003t0001g0090
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0006g0034
a0002c0001t0006g0035
 5 HG01884.hp1
HG02630.hp1
HG03098.hp1
others(2): Show 
HG01884.hp1
HG02630.hp1
HG03098.hp1
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.1113+370_1113+372d
others(5): Show 
c.1113+370_1113+372dupTCA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51421413
chr1:51421448 A
A
 G
G
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1113+338T>C
c.1113+338T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51421448
chr1:51421495 T
T
 C
C
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1113+291A>G
c.1113+291A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 13/24 chr1 51421495
chr1:51422046 TA
TA
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1041-189delT
c.1041-189delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51422046
chr1:51422482 T
T
 C
C
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.1041-624A>G
c.1041-624A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51422482
chr1:51422551 G
G
 A
A
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.1041-693C>T
c.1041-693C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51422551
chr1:51422597 C
C
 G
G
 1 a0001c0002t0001g0083
a0001c0002t0001g0083
 1 NA19011.hp1
NA19011.hp1
 intron_variant MODIFIER c.1041-739G>C
c.1041-739G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51422597
chr1:51422618 G
G
 A
A
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.1041-760C>T
c.1041-760C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51422618
chr1:51422704 T
T
 C
C
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.1041-846A>G
c.1041-846A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51422704
chr1:51422766 A
A
 G
G
 1 a0001c0002t0001g0082
a0001c0002t0001g0082
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.1041-908T>C
c.1041-908T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51422766
chr1:51423077 T
T
 C
C
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.1041-1219A>G
c.1041-1219A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51423077
chr1:51423158 T
T
 C
C
 3 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
 3 HG02572.hp1
HG03041.hp1
NA18522.hp2
HG02572.hp1
HG03041.hp1
NA18522.hp2
 intron_variant MODIFIER c.1041-1300A>G
c.1041-1300A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51423158
chr1:51423191 C
C
 T
T
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1041-1333G>A
c.1041-1333G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51423191
chr1:51423206 A
A
 G
G
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.1041-1348T>C
c.1041-1348T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51423206
chr1:51423530 C
C
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1041-1672G>T
c.1041-1672G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51423530
chr1:51423913 A
A
 G
G
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.1041-2055T>C
c.1041-2055T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51423913
chr1:51424151 CAGA
CAGA
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1041-2296_1041-229
others(7): Show 
c.1041-2296_1041-2294delTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51424151
chr1:51424155 A
A
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1041-2297T>A
c.1041-2297T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51424155
chr1:51424156 A
A
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1041-2298T>A
c.1041-2298T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51424156
chr1:51424219 T
T
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1041-2361A>G
c.1041-2361A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51424219
chr1:51424428 A
A
 G
G
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.1041-2570T>C
c.1041-2570T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51424428
chr1:51424849 G
G
 A
A
 1 a0001c0002t0003g0077
a0001c0002t0003g0077
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.1041-2991C>T
c.1041-2991C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51424849
chr1:51424953 C
C
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1041-3095G>T
c.1041-3095G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51424953
chr1:51425028 A
A
 C
C
 1 a0001c0002t0001g0113
a0001c0002t0001g0113
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.1041-3170T>G
c.1041-3170T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51425028
chr1:51425121 A
A
 C
C
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.1041-3263T>G
c.1041-3263T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51425121
chr1:51425187 C
C
 T
T
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.1041-3329G>A
c.1041-3329G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51425187
chr1:51425284 A
A
 G
G
 1 a0005c0008t0002g0033
a0005c0008t0002g0033
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1041-3426T>C
c.1041-3426T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51425284
chr1:51425426 ATCATCT
ATCATCT
 A
A
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1041-3574_1041-356
others(10): Show 
c.1041-3574_1041-3569delAGATGA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51425426
chr1:51425465 C
C
 T
T
 9 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(6): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
 9 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(6): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1041-3607G>A
c.1041-3607G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51425465
chr1:51426087 T
T
 C
C
 14 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(11): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 14 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(11): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.1041-4229A>G
c.1041-4229A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426087
chr1:51426093 C
C
 G
G
 1 a0002c0001t0004g0040
a0002c0001t0004g0040
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1041-4235G>C
c.1041-4235G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426093
chr1:51426108 G
G
 A
A
 1 a0002c0001t0014g0036
a0002c0001t0014g0036
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1041-4250C>T
c.1041-4250C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426108
chr1:51426161 C
C
 T
T
 1 a0001c0002t0001g0064
a0001c0002t0001g0064
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.1041-4303G>A
c.1041-4303G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426161
chr1:51426288 G
G
 A
A
 1 a0001c0002t0001g0073
a0001c0002t0001g0073
 1 HG03492.hp1
HG03492.hp1
 intron_variant MODIFIER c.1041-4430C>T
c.1041-4430C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426288
chr1:51426771 G
G
 A
A
 1 a0003c0005t0001g0017
a0003c0005t0001g0017
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.1041-4913C>T
c.1041-4913C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426771
chr1:51426817 G
G
 GTC
GTC
 29 a0001c0002t0001g0079
a0001c0002t0020g0050
a0002c0001t0004g0038
others(26): Show 
a0001c0002t0001g0079
a0001c0002t0020g0050
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0035
a0002c0001t0009g0116
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0012g0001
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0007
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 29 HG01167.hp2
HG01168.hp2
HG01175.hp1
others(26): Show 
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01346.hp1
HG02257.hp1
HG02451.hp2
HG02486.hp2
HG02572.hp1
HG02630.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19240.hp2
 intron_variant MODIFIER c.1041-4961_1041-496
others(6): Show 
c.1041-4961_1041-4960dupGA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426817
chr1:51426817 G
G
 GTCTC
GTCTC
 13 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0022
others(10): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
a0002c0001t0006g0034
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
a0007c0009t0015g0125
 13 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(10): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG02109.hp1
HG02109.hp2
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG03098.hp1
HG03209.hp2
HG03486.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1041-4963_1041-496
others(8): Show 
c.1041-4963_1041-4960dupGAGA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426817
chr1:51426817 G
G
 GTCTCTCT
others(1): Show 
GTCTCTCTC
 2 a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0007g0134
a0002c0001t0007g0135
 2 HG01257.hp2
NA20129.hp2
HG01257.hp2
NA20129.hp2
 intron_variant MODIFIER c.1041-4967_1041-496
others(12): Show 
c.1041-4967_1041-4960dupGAGAGAGA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426817
chr1:51426831 C
C
 T
T
 3 a0001c0002t0003g0069
a0001c0002t0003g0070
a0001c0002t0003g0076
a0001c0002t0003g0069
a0001c0002t0003g0070
a0001c0002t0003g0076
 3 HG02647.hp2
HG03130.hp2
NA18906.hp1
HG02647.hp2
HG03130.hp2
NA18906.hp1
 intron_variant MODIFIER c.1041-4973G>A
c.1041-4973G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426831
chr1:51426837 C
C
 CTA
CTA
 3 a0002c0001t0009g0117
a0002c0004t0002g0006
a0002c0004t0002g0008
a0002c0001t0009g0117
a0002c0004t0002g0006
a0002c0004t0002g0008
 3 HG00735.hp2
HG01891.hp1
HG02723.hp2
HG00735.hp2
HG01891.hp1
HG02723.hp2
 intron_variant MODIFIER c.1041-4981_1041-498
others(6): Show 
c.1041-4981_1041-4980dupTA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426837
chr1:51426837 C
C
 CTCTCTA
CTCTCTA
 3 a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0022g0115
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0022g0115
 3 HG01515.hp2
HG01517.hp2
HG06807.hp1
HG01515.hp2
HG01517.hp2
HG06807.hp1
 intron_variant MODIFIER c.1041-4980_1041-497
others(10): Show 
c.1041-4980_1041-4979insTAGAGA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426837
chr1:51426837 C
C
 CTCTCTAT
others(3): Show 
CTCTCTATATA
 3 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
 3 HG01516.hp1
HG01517.hp1
NA20805.hp2
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.1041-4980_1041-497
others(14): Show 
c.1041-4980_1041-4979insTATATAGAGA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426837
chr1:51426837 C
C
 CTCTCTCT
others(3): Show 
CTCTCTCTATA
 1 a0002c0001t0008g0123
a0002c0001t0008g0123
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1041-4980_1041-497
others(14): Show 
c.1041-4980_1041-4979insTATAGAGAGA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426837
chr1:51426837 C
C
 CTCTCTCT
others(7): Show 
CTCTCTCTATATATA
 1 a0009c0012t0007g0136
a0009c0012t0007g0136
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.1041-4980_1041-497
others(18): Show 
c.1041-4980_1041-4979insTATATATAGAGAGA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426837
chr1:51426837 C
C
 CTCTCTCT
others(11): Show 
CTCTCTCTCTCTATATATA
 1 a0004c0015t0011g0152
a0004c0015t0011g0152
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1041-4980_1041-497
others(22): Show 
c.1041-4980_1041-4979insTATATATAGAGAGAGAGA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426837
chr1:51426837 C
C
 CTCTCTCT
others(11): Show 
CTCTCTCTCTCTCTATATA
 3 a0002c0001t0011g0131
a0002c0001t0011g0132
a0006c0010t0026g0129
a0002c0001t0011g0131
a0002c0001t0011g0132
a0006c0010t0026g0129
 3 HG01109.hp2
HG02559.hp2
HG03195.hp1
HG01109.hp2
HG02559.hp2
HG03195.hp1
 intron_variant MODIFIER c.1041-4980_1041-497
others(22): Show 
c.1041-4980_1041-4979insTATATAGAGAGAGAGAGA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426837
chr1:51426837 C
C
 CTCTCTCT
others(11): Show 
CTCTCTCTCTCTCTCTCTA
 1 a0002c0001t0011g0130
a0002c0001t0011g0130
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1041-4980_1041-497
others(22): Show 
c.1041-4980_1041-4979insTAGAGAGAGAGAGAGAGA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426837
chr1:51426839 A
A
 C
C
 102 a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
others(99): Show 
a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0051
a0001c0002t0001g0052
a0001c0002t0001g0056
a0001c0002t0001g0073
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0111
a0001c0002t0001g0113
a0001c0002t0001g0114
a0001c0002t0001g0128
a0001c0002t0003g0049
a0001c0002t0003g0061
a0001c0002t0003g0069
a0001c0002t0003g0070
a0001c0002t0003g0074
a0001c0002t0003g0075
a0001c0002t0003g0076
a0001c0002t0003g0077
a0001c0002t0003g0106
a0001c0002t0013g0062
a0001c0002t0013g0065
a0001c0002t0017g0032
a0001c0002t0018g0105
a0001c0002t0019g0055
a0001c0002t0020g0050
a0001c0003t0001g0053
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0068
a0001c0003t0001g0081
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
a0001c0003t0001g0103
a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0003t0001g0109
a0001c0003t0001g0110
a0001c0003t0003g0054
a0001c0006t0001g0104
a0001c0006t0001g0112
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0005g0138
a0002c0001t0005g0141
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0009g0116
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0012g0003
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0005
a0002c0004t0002g0007
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0003c0005t0001g0017
a0003c0005t0001g0057
a0005c0008t0002g0033
a0007c0009t0015g0125
a0010c0013t0001g0063
 102 HG00438.hp2
HG00558.hp2
HG00639.hp1
others(99): Show 
HG00438.hp2
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG02055.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03834.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18957.hp1
NA18957.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.1041-4981T>G
c.1041-4981T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426839
chr1:51426841 A
A
 C
C
 41 a0001c0002t0001g0052
a0001c0002t0001g0078
a0001c0002t0001g0082
others(38): Show 
a0001c0002t0001g0052
a0001c0002t0001g0078
a0001c0002t0001g0082
a0001c0002t0001g0084
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0092
a0001c0002t0001g0111
a0001c0002t0001g0113
a0001c0002t0001g0114
a0001c0002t0003g0069
a0001c0002t0003g0070
a0001c0002t0003g0076
a0001c0002t0003g0077
a0001c0002t0017g0032
a0001c0003t0001g0053
a0001c0003t0001g0081
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0001g0093
a0001c0003t0001g0095
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0003g0054
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0005g0141
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
a0002c0004t0002g0005
a0002c0004t0002g0007
a0002c0004t0002g0009
a0002c0004t0002g0013
a0002c0004t0002g0016
a0003c0005t0001g0017
a0003c0005t0001g0057
a0005c0008t0002g0033
 41 HG00438.hp2
HG00642.hp2
HG00738.hp2
others(38): Show 
HG00438.hp2
HG00642.hp2
HG00738.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01257.hp1
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02976.hp1
HG03130.hp2
HG03139.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18957.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.1041-4983T>G
c.1041-4983T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426841
chr1:51426843 A
A
 C
C
 16 a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0113
others(13): Show 
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0113
a0001c0003t0001g0053
a0001c0003t0001g0081
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0003g0054
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
a0002c0004t0002g0013
a0003c0005t0001g0017
a0003c0005t0001g0057
 16 HG00642.hp2
HG01257.hp1
HG01884.hp1
others(13): Show 
HG00642.hp2
HG01257.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02145.hp2
HG02258.hp1
HG02630.hp1
HG02735.hp2
HG03453.hp1
HG03486.hp2
HG03654.hp2
HG03688.hp1
NA18957.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.1041-4985T>G
c.1041-4985T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426843
chr1:51426845 A
A
 C
C
 2 a0003c0005t0001g0017
a0003c0005t0001g0057
a0003c0005t0001g0017
a0003c0005t0001g0057
 2 HG01257.hp1
NA20752.hp2
HG01257.hp1
NA20752.hp2
 intron_variant MODIFIER c.1041-4987T>G
c.1041-4987T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426845
chr1:51426848 T
T
 TATATATA
others(23): Show 
TATATATATACACACACATATATATATACAC
 1 a0002c0001t0012g0002
a0002c0001t0012g0002
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1041-4991_1041-499
others(34): Show 
c.1041-4991_1041-4990insGTGTATATATATATGTGTGTGTATAT
ATAT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426848
chr1:51426854 C
C
 T
T
 143 a0001c0002t0001g0026
a0001c0002t0001g0045
a0001c0002t0001g0046
others(140): Show 
a0001c0002t0001g0026
a0001c0002t0001g0045
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0051
a0001c0002t0001g0052
a0001c0002t0001g0056
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0111
a0001c0002t0001g0113
a0001c0002t0001g0114
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0003g0049
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0003g0061
a0001c0002t0003g0069
a0001c0002t0003g0070
a0001c0002t0003g0074
a0001c0002t0003g0076
a0001c0002t0003g0077
a0001c0002t0013g0062
a0001c0002t0013g0065
a0001c0002t0017g0032
a0001c0002t0018g0105
a0001c0002t0019g0055
a0001c0002t0020g0050
a0001c0003t0001g0053
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0068
a0001c0003t0001g0081
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
a0001c0003t0001g0102
a0001c0003t0001g0103
a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0003t0001g0109
a0001c0003t0001g0110
a0001c0003t0003g0054
a0001c0006t0001g0104
a0001c0006t0001g0112
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0003c0005t0001g0017
a0003c0005t0001g0057
a0005c0008t0002g0033
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
a0010c0013t0001g0063
 143 HG00438.hp1
HG00438.hp2
HG00558.hp1
others(140): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03834.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18957.hp1
NA18957.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1041-4996G>A
c.1041-4996G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426854
chr1:51426856 C
C
 T
T
 14 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(11): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 14 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(11): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.1041-4998G>A
c.1041-4998G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426856
chr1:51426862 C
C
 CAT
CAT
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1041-5006_1041-500
others(6): Show 
c.1041-5006_1041-5005dupAT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426862
chr1:51426864 T
T
 C
C
 14 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(11): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 14 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(11): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.1041-5006A>G
c.1041-5006A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426864
chr1:51426892 T
T
 C
C
 1 a0002c0007t0010g0043
a0002c0007t0010g0043
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.1041-5034A>G
c.1041-5034A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426892
chr1:51426992 G
G
 A
A
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.1041-5134C>T
c.1041-5134C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51426992
chr1:51427007 T
T
 C
C
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.1041-5149A>G
c.1041-5149A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51427007
chr1:51427163 A
A
 C
C
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.1041-5305T>G
c.1041-5305T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51427163
chr1:51427266 G
G
 A
A
 4 a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
others(1): Show 
a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
 4 HG00639.hp2
HG02647.hp1
HG02818.hp2
others(1): Show 
HG00639.hp2
HG02647.hp1
HG02818.hp2
HG03471.hp1
 intron_variant MODIFIER c.1041-5408C>T
c.1041-5408C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51427266
chr1:51427400 C
C
 T
T
 1 a0002c0001t0012g0002
a0002c0001t0012g0002
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1041-5542G>A
c.1041-5542G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51427400
chr1:51427447 TG
TG
 T
T
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.1041-5590delC
c.1041-5590delC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51427447
chr1:51427481 A
A
 G
G
 1 a0002c0001t0005g0139
a0002c0001t0005g0139
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.1041-5623T>C
c.1041-5623T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51427481
chr1:51427837 A
A
 G
G
 4 a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
others(1): Show 
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 4 HG02109.hp2
HG02717.hp2
HG02818.hp1
others(1): Show 
HG02109.hp2
HG02717.hp2
HG02818.hp1
HG03209.hp2
 intron_variant MODIFIER c.1041-5979T>C
c.1041-5979T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51427837
chr1:51428024 A
A
 G
G
 4 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(1): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
 4 HG02559.hp2
HG03195.hp1
HG03471.hp2
others(1): Show 
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1041-6166T>C
c.1041-6166T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51428024
chr1:51428102 GA
GA
 G
G
 10 a0001c0003t0001g0102
a0002c0001t0007g0133
a0002c0001t0007g0134
others(7): Show 
a0001c0003t0001g0102
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 10 HG00642.hp1
HG00733.hp1
HG01109.hp2
others(7): Show 
HG00642.hp1
HG00733.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1041-6245delT
c.1041-6245delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51428102
chr1:51428414 T
T
 C
C
 1 a0002c0001t0016g0027
a0002c0001t0016g0027
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.1041-6556A>G
c.1041-6556A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51428414
chr1:51428491 CAG
CAG
 C
C
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.1041-6635_1041-663
others(6): Show 
c.1041-6635_1041-6634delCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51428491
chr1:51428661 C
C
 T
T
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.1041-6803G>A
c.1041-6803G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51428661
chr1:51428702 C
C
 G
G
 3 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
 3 HG02572.hp1
HG03041.hp1
NA18522.hp2
HG02572.hp1
HG03041.hp1
NA18522.hp2
 intron_variant MODIFIER c.1041-6844G>C
c.1041-6844G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51428702
chr1:51428703 T
T
 G
G
 3 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
 3 HG02572.hp1
HG03041.hp1
NA18522.hp2
HG02572.hp1
HG03041.hp1
NA18522.hp2
 intron_variant MODIFIER c.1041-6845A>C
c.1041-6845A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51428703
chr1:51428734 G
G
 C
C
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.1041-6876C>G
c.1041-6876C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51428734
chr1:51428775 C
C
 T
T
 3 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
 3 HG02572.hp1
HG03041.hp1
NA18522.hp2
HG02572.hp1
HG03041.hp1
NA18522.hp2
 intron_variant MODIFIER c.1041-6917G>A
c.1041-6917G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51428775
chr1:51428812 G
G
 GCCC
GCCC
 7 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
others(4): Show 
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 7 HG02109.hp2
HG02630.hp1
HG02717.hp2
others(4): Show 
HG02109.hp2
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG03209.hp2
HG03453.hp2
NA19240.hp2
 intron_variant MODIFIER c.1041-6955_1041-695
others(7): Show 
c.1041-6955_1041-6954insGGG
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51428812
chr1:51428826 C
C
 CA
CA
 12 a0001c0002t0001g0045
a0001c0002t0001g0064
a0001c0002t0001g0079
others(9): Show 
a0001c0002t0001g0045
a0001c0002t0001g0064
a0001c0002t0001g0079
a0001c0002t0001g0084
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0013g0062
a0001c0002t0013g0065
a0001c0002t0020g0050
a0001c0003t0001g0066
a0002c0001t0012g0001
a0002c0001t0012g0003
 12 HG00741.hp1
HG00741.hp2
HG01168.hp2
others(9): Show 
HG00741.hp1
HG00741.hp2
HG01168.hp2
HG01175.hp2
HG01261.hp2
HG01952.hp1
HG02257.hp1
HG02572.hp2
HG02630.hp2
HG02738.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.1041-6969dupT
c.1041-6969dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51428826
chr1:51428826 C
C
 CAA
CAA
 13 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(10): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 13 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(10): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.1041-6970_1041-696
others(6): Show 
c.1041-6970_1041-6969dupTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51428826
chr1:51428826 CA
CA
 C
C
 13 a0001c0002t0001g0082
a0001c0002t0003g0049
a0002c0001t0004g0020
others(10): Show 
a0001c0002t0001g0082
a0001c0002t0003g0049
a0002c0001t0004g0020
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0003c0005t0001g0017
a0003c0005t0001g0057
a0004c0015t0011g0152
a0006c0010t0026g0129
 13 HG00738.hp1
HG01109.hp2
HG01257.hp1
others(10): Show 
HG00738.hp1
HG01109.hp2
HG01257.hp1
HG01517.hp1
HG01517.hp2
HG02559.hp2
HG03041.hp2
HG03195.hp1
HG03471.hp2
HG03491.hp2
NA19043.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1041-6969delT
c.1041-6969delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51428826
chr1:51428826 CAA
CAA
 C
C
 5 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(2): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0009c0012t0007g0136
 5 HG00642.hp1
HG01257.hp2
HG01516.hp1
others(2): Show 
HG00642.hp1
HG01257.hp2
HG01516.hp1
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.1041-6970_1041-696
others(6): Show 
c.1041-6970_1041-6969delTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51428826
chr1:51428828 A
A
 G
G
 1 a0002c0001t0014g0037
a0002c0001t0014g0037
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1041-6970T>C
c.1041-6970T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51428828
chr1:51428871 G
G
 T
T
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.1041-7013C>A
c.1041-7013C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51428871
chr1:51429116 C
C
 G
G
 2 a0001c0002t0001g0091
a0001c0002t0001g0111
a0001c0002t0001g0091
a0001c0002t0001g0111
 2 HG04115.hp2
HG04228.hp2
HG04115.hp2
HG04228.hp2
 intron_variant MODIFIER c.1041-7258G>C
c.1041-7258G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51429116
chr1:51429347 CAA
CAA
 C
C
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1041-7491_1041-749
others(6): Show 
c.1041-7491_1041-7490delTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51429347
chr1:51429462 A
A
 G
G
 1 a0001c0002t0001g0079
a0001c0002t0001g0079
 1 HG01168.hp2
HG01168.hp2
 intron_variant MODIFIER c.1041-7604T>C
c.1041-7604T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51429462
chr1:51429641 TG
TG
 T
T
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.1041-7784delC
c.1041-7784delC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51429641
chr1:51429643 G
G
 GT
GT
 7 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0003g0061
others(4): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0003g0061
a0001c0003t0001g0107
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 7 HG01257.hp2
HG02572.hp2
HG03130.hp1
others(4): Show 
HG01257.hp2
HG02572.hp2
HG03130.hp1
HG04115.hp1
HG04199.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.1041-7786dupA
c.1041-7786dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51429643
chr1:51429643 GT
GT
 G
G
 58 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0003g0106
others(55): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0003g0106
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0035
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0005c0008t0002g0033
a0007c0009t0015g0125
a0008c0011t0025g0140
 58 HG00733.hp2
HG00735.hp1
HG00735.hp2
others(55): Show 
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG01109.hp1
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1041-7786delA
c.1041-7786delA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51429643
chr1:51429643 GTTTT
GTTTT
 G
G
 6 a0001c0003t0001g0110
a0002c0001t0011g0130
a0002c0001t0011g0131
others(3): Show 
a0001c0003t0001g0110
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 6 HG01109.hp2
HG01167.hp1
HG02559.hp2
others(3): Show 
HG01109.hp2
HG01167.hp1
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1041-7789_1041-778
others(8): Show 
c.1041-7789_1041-7786delAAAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51429643
chr1:51429808 G
G
 A
A
 1 a0002c0001t0014g0036
a0002c0001t0014g0036
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1041-7950C>T
c.1041-7950C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51429808
chr1:51430159 T
T
 C
C
 2 a0002c0004t0002g0005
a0002c0004t0002g0014
a0002c0004t0002g0005
a0002c0004t0002g0014
 2 HG02738.hp2
HG04199.hp1
HG02738.hp2
HG04199.hp1
 intron_variant MODIFIER c.1041-8301A>G
c.1041-8301A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51430159
chr1:51430195 A
A
 G
G
 1 a0001c0003t0001g0102
a0001c0003t0001g0102
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.1041-8337T>C
c.1041-8337T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51430195
chr1:51430536 C
C
 T
T
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.1041-8678G>A
c.1041-8678G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51430536
chr1:51430567 C
C
 CA
CA
 23 a0001c0002t0001g0048
a0001c0002t0001g0056
a0001c0002t0001g0083
others(20): Show 
a0001c0002t0001g0048
a0001c0002t0001g0056
a0001c0002t0001g0083
a0001c0002t0001g0128
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0022g0115
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
 23 HG00735.hp1
HG00735.hp2
HG01109.hp2
others(20): Show 
HG00735.hp1
HG00735.hp2
HG01109.hp2
HG01192.hp1
HG02257.hp1
HG02559.hp2
HG02630.hp1
HG02717.hp1
HG02818.hp2
HG02976.hp1
HG03139.hp2
HG03195.hp1
HG03471.hp2
HG03491.hp1
HG03492.hp2
HG04199.hp2
HG06807.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.1041-8710dupT
c.1041-8710dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51430567
chr1:51430584 A
A
 AT
AT
 13 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(10): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 13 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(10): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.1041-8727dupA
c.1041-8727dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51430584
chr1:51430717 A
A
 G
G
 1 a0002c0001t0007g0135
a0002c0001t0007g0135
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.1041-8859T>C
c.1041-8859T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51430717
chr1:51430727 G
G
 A
A
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.1041-8869C>T
c.1041-8869C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51430727
chr1:51430946 C
C
 T
T
 6 a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
others(3): Show 
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0014t0002g0010
 6 HG01167.hp2
HG02486.hp2
HG02922.hp1
others(3): Show 
HG01167.hp2
HG02486.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
NA18522.hp1
 intron_variant MODIFIER c.1041-9088G>A
c.1041-9088G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51430946
chr1:51430977 T
T
 TAC
TAC
 6 a0001c0002t0001g0086
a0001c0002t0001g0092
a0001c0002t0001g0113
others(3): Show 
a0001c0002t0001g0086
a0001c0002t0001g0092
a0001c0002t0001g0113
a0001c0002t0003g0075
a0001c0003t0001g0099
a0001c0006t0001g0112
 6 HG00438.hp2
HG01261.hp1
HG02559.hp1
others(3): Show 
HG00438.hp2
HG01261.hp1
HG02559.hp1
HG02615.hp2
HG03654.hp2
NA18957.hp1
 intron_variant MODIFIER c.1041-9121_1041-912
others(6): Show 
c.1041-9121_1041-9120dupGT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51430977
chr1:51430977 TAC
TAC
 T
T
 27 a0001c0002t0001g0051
a0001c0002t0001g0052
a0001c0002t0001g0056
others(24): Show 
a0001c0002t0001g0051
a0001c0002t0001g0052
a0001c0002t0001g0056
a0001c0002t0001g0064
a0001c0002t0001g0072
a0001c0002t0001g0079
a0001c0002t0001g0083
a0001c0002t0001g0085
a0001c0002t0001g0087
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0003g0061
a0001c0002t0003g0076
a0001c0002t0013g0065
a0001c0002t0020g0050
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0003g0054
a0001c0006t0001g0104
a0002c0004t0002g0007
a0002c0004t0002g0137
a0010c0013t0001g0063
 27 HG00438.hp1
HG00558.hp1
HG01167.hp1
others(24): Show 
HG00438.hp1
HG00558.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01516.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02647.hp2
HG02738.hp1
HG02970.hp1
HG03540.hp2
HG03654.hp1
HG03688.hp1
HG03688.hp2
HG04199.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA19011.hp1
NA19011.hp2
NA20129.hp1
 intron_variant MODIFIER c.1041-9121_1041-912
others(6): Show 
c.1041-9121_1041-9120delGT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51430977
chr1:51430977 TACAC
TACAC
 T
T
 20 a0001c0002t0001g0045
a0001c0002t0001g0078
a0001c0002t0001g0080
others(17): Show 
a0001c0002t0001g0045
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0001g0084
a0001c0002t0002g0030
a0001c0002t0003g0074
a0001c0002t0003g0077
a0001c0002t0003g0106
a0001c0002t0019g0055
a0001c0003t0001g0053
a0001c0003t0001g0068
a0001c0003t0001g0107
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0039
a0002c0004t0002g0006
a0002c0004t0002g0013
 20 HG00558.hp2
HG00639.hp1
HG00642.hp2
others(17): Show 
HG00558.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01261.hp2
HG01891.hp1
HG02572.hp2
HG02630.hp1
HG02723.hp1
HG02735.hp2
HG03098.hp2
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04228.hp1
NA19240.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1041-9123_1041-912
others(8): Show 
c.1041-9123_1041-9120delGTGT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51430977
chr1:51430977 TACACAC
TACACAC
 T
T
 23 a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
others(20): Show 
a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0003t0001g0081
a0001c0003t0001g0103
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0014t0002g0010
 23 HG00639.hp2
HG00738.hp1
HG01167.hp2
others(20): Show 
HG00639.hp2
HG00738.hp1
HG01167.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG02109.hp1
HG02486.hp2
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03834.hp2
NA18522.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.1041-9125_1041-912
others(10): Show 
c.1041-9125_1041-9120delGTGTGT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51430977
chr1:51430977 TACACACA
others(1): Show 
TACACACAC
 T
T
 10 a0001c0002t0002g0031
a0001c0002t0017g0032
a0001c0003t0001g0102
others(7): Show 
a0001c0002t0002g0031
a0001c0002t0017g0032
a0001c0003t0001g0102
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0012g0002
a0002c0001t0016g0027
a0005c0008t0002g0033
 10 HG00733.hp1
HG02572.hp1
HG02630.hp2
others(7): Show 
HG00733.hp1
HG02572.hp1
HG02630.hp2
HG02717.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp1
NA18522.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.1041-9127_1041-912
others(12): Show 
c.1041-9127_1041-9120delGTGTGTGT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51430977
chr1:51430977 TACACACA
others(3): Show 
TACACACACAC
 T
T
 8 a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
others(5): Show 
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0012g0001
a0002c0001t0012g0003
a0002c0007t0010g0043
a0003c0005t0001g0057
a0007c0009t0015g0125
 8 HG01257.hp1
HG02109.hp2
HG02257.hp1
others(5): Show 
HG01257.hp1
HG02109.hp2
HG02257.hp1
HG02717.hp2
HG02818.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.1041-9129_1041-912
others(14): Show 
c.1041-9129_1041-9120delGTGTGTGTGT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51430977
chr1:51430977 TACACACA
others(5): Show 
TACACACACACAC
 T
T
 2 a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0006g0034
a0002c0001t0006g0035
 2 HG03098.hp1
NA18906.hp2
HG03098.hp1
NA18906.hp2
 intron_variant MODIFIER c.1041-9131_1041-912
others(16): Show 
c.1041-9131_1041-9120delGTGTGTGTGTGT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51430977
chr1:51430981 C
C
 T
T
 1 a0002c0001t0014g0037
a0002c0001t0014g0037
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1041-9123G>A
c.1041-9123G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51430981
chr1:51431009 CACACACA
others(13): Show 
CACACACACACACACACACAA
 C
C
 1 a0002c0001t0022g0115
a0002c0001t0022g0115
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.1041-9171_1041-915
others(24): Show 
c.1041-9171_1041-9152delTTGTGTGTGTGTGTGTGTGT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51431009
chr1:51431011 CACACACA
others(11): Show 
CACACACACACACACACAA
 C
C
 6 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(3): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 6 HG00642.hp1
HG00735.hp2
HG01257.hp2
others(3): Show 
HG00642.hp1
HG00735.hp2
HG01257.hp2
HG03491.hp1
HG03492.hp2
NA20129.hp2
 intron_variant MODIFIER c.1041-9171_1041-915
others(22): Show 
c.1041-9171_1041-9154delTTGTGTGTGTGTGTGTGT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51431011
chr1:51431015 CACACACA
others(7): Show 
CACACACACACACAA
 C
C
 1 a0009c0012t0007g0136
a0009c0012t0007g0136
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.1041-9171_1041-915
others(18): Show 
c.1041-9171_1041-9158delTTGTGTGTGTGTGT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51431015
chr1:51431017 CACACACA
others(5): Show 
CACACACACACAA
 C
C
 2 a0002c0001t0005g0142
a0002c0001t0009g0116
a0002c0001t0005g0142
a0002c0001t0009g0116
 2 HG02486.hp1
NA19030.hp2
HG02486.hp1
NA19030.hp2
 intron_variant MODIFIER c.1041-9171_1041-916
others(16): Show 
c.1041-9171_1041-9160delTTGTGTGTGTGT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51431017
chr1:51431019 CACACACA
others(3): Show 
CACACACACAA
 C
C
 3 a0002c0001t0005g0138
a0002c0001t0005g0148
a0008c0011t0025g0140
a0002c0001t0005g0138
a0002c0001t0005g0148
a0008c0011t0025g0140
 3 HG02257.hp2
NA19030.hp1
NA20300.hp1
HG02257.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.1041-9171_1041-916
others(14): Show 
c.1041-9171_1041-9162delTTGTGTGTGT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51431019
chr1:51431021 CACACACA
others(1): Show 
CACACACAA
 C
C
 8 a0002c0001t0005g0141
a0002c0001t0005g0143
a0002c0001t0005g0150
others(5): Show 
a0002c0001t0005g0141
a0002c0001t0005g0143
a0002c0001t0005g0150
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0021g0147
a0004c0015t0011g0152
 8 HG01109.hp1
HG01884.hp2
HG01891.hp2
others(5): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp2
HG02559.hp2
HG03139.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1041-9171_1041-916
others(12): Show 
c.1041-9171_1041-9164delTTGTGTGT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51431021
chr1:51431023 CACACAA
CACACAA
 C
C
 4 a0001c0003t0001g0100
a0002c0001t0005g0146
a0002c0001t0023g0151
others(1): Show 
a0001c0003t0001g0100
a0002c0001t0005g0146
a0002c0001t0023g0151
a0002c0001t0024g0145
 4 HG01168.hp1
HG01175.hp1
HG02055.hp2
others(1): Show 
HG01168.hp1
HG01175.hp1
HG02055.hp2
HG02258.hp2
 intron_variant MODIFIER c.1041-9171_1041-916
others(10): Show 
c.1041-9171_1041-9166delTTGTGT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51431023
chr1:51431025 CACAA
CACAA
 C
C
 4 a0001c0003t0001g0109
a0002c0001t0005g0139
a0002c0001t0005g0144
others(1): Show 
a0001c0003t0001g0109
a0002c0001t0005g0139
a0002c0001t0005g0144
a0006c0010t0026g0129
 4 HG01074.hp1
HG01109.hp2
HG02615.hp1
others(1): Show 
HG01074.hp1
HG01109.hp2
HG02615.hp1
HG03209.hp1
 intron_variant MODIFIER c.1041-9171_1041-916
others(8): Show 
c.1041-9171_1041-9168delTTGT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51431025
chr1:51431027 C
C
 A
A
 1 a0007c0009t0015g0125
a0007c0009t0015g0125
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.1041-9169G>T
c.1041-9169G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51431027
chr1:51431027 CA
CA
 C
C
 3 a0001c0002t0001g0114
a0001c0002t0013g0062
a0001c0002t0018g0105
a0001c0002t0001g0114
a0001c0002t0013g0062
a0001c0002t0018g0105
 3 HG00741.hp2
HG04204.hp1
NA18957.hp2
HG00741.hp2
HG04204.hp1
NA18957.hp2
 intron_variant MODIFIER c.1041-9170delT
c.1041-9170delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51431027
chr1:51431028 A
A
 AC
AC
 2 a0001c0002t0001g0111
a0001c0003t0001g0096
a0001c0002t0001g0111
a0001c0003t0001g0096
 2 HG04115.hp2
HG04204.hp2
HG04115.hp2
HG04204.hp2
 intron_variant MODIFIER c.1041-9171_1041-917
others(5): Show 
c.1041-9171_1041-9170insG
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51431028
chr1:51431029 A
A
 C
C
 2 a0002c0001t0005g0149
a0002c0001t0014g0036
a0002c0001t0005g0149
a0002c0001t0014g0036
 2 HG02976.hp2
HG03486.hp2
HG02976.hp2
HG03486.hp2
 intron_variant MODIFIER c.1041-9171T>G
c.1041-9171T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51431029
chr1:51431113 TC
TC
 T
T
 3 a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
 3 HG02559.hp2
HG03195.hp1
NA19043.hp1
HG02559.hp2
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.1040+9233delG
c.1040+9233delG
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51431113
chr1:51431386 C
C
 T
T
 1 a0001c0003t0001g0099
a0001c0003t0001g0099
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.1040+8961G>A
c.1040+8961G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51431386
chr1:51431590 T
T
 C
C
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.1040+8757A>G
c.1040+8757A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51431590
chr1:51431905 T
T
 C
C
 9 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(6): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
 9 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(6): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1040+8442A>G
c.1040+8442A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51431905
chr1:51432061 T
T
 C
C
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.1040+8286A>G
c.1040+8286A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51432061
chr1:51432298 T
T
 TTATG
TTATG
 29 a0001c0002t0001g0064
a0001c0002t0001g0072
a0001c0002t0001g0079
others(26): Show 
a0001c0002t0001g0064
a0001c0002t0001g0072
a0001c0002t0001g0079
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0111
a0001c0002t0001g0114
a0001c0002t0001g0128
a0001c0002t0003g0049
a0001c0002t0003g0061
a0001c0002t0003g0069
a0001c0002t0003g0070
a0001c0002t0003g0076
a0001c0002t0013g0062
a0001c0002t0020g0050
a0001c0003t0001g0053
a0001c0003t0001g0089
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0025
a0002c0001t0004g0124
a0002c0001t0007g0134
a0002c0001t0012g0001
a0003c0005t0001g0017
a0003c0005t0001g0057
a0010c0013t0001g0063
 29 HG00558.hp1
HG00642.hp2
HG00741.hp2
others(26): Show 
HG00558.hp1
HG00642.hp2
HG00741.hp2
HG01168.hp2
HG01175.hp2
HG01257.hp1
HG01261.hp2
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02257.hp1
HG02258.hp1
HG02647.hp2
HG02738.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03491.hp2
HG03654.hp2
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18906.hp1
NA19011.hp1
NA19011.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.1040+8045_1040+804
others(8): Show 
c.1040+8045_1040+8048dupCATA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51432298
chr1:51432298 T
T
 TTATGTAT
others(1): Show 
TTATGTATG
 3 a0001c0002t0001g0073
a0002c0001t0004g0023
a0002c0001t0007g0133
a0001c0002t0001g0073
a0002c0001t0004g0023
a0002c0001t0007g0133
 3 HG00642.hp1
HG03492.hp1
homoSapiens_chm13v2.hp1
HG00642.hp1
HG03492.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1040+8041_1040+804
others(12): Show 
c.1040+8041_1040+8048dupCATACATA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51432298
chr1:51432298 TTATG
TTATG
 T
T
 25 a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0091
others(22): Show 
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0091
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0003t0001g0068
a0001c0003t0001g0101
a0001c0003t0001g0103
a0001c0003t0001g0110
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0016g0027
a0002c0001t0021g0147
a0005c0008t0002g0033
a0008c0011t0025g0140
 25 HG01109.hp1
HG01167.hp1
HG01884.hp2
others(22): Show 
HG01109.hp1
HG01167.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp2
HG02257.hp2
HG02486.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03471.hp1
HG03486.hp2
HG03834.hp1
HG03834.hp2
HG04228.hp2
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.1040+8045_1040+804
others(8): Show 
c.1040+8045_1040+8048delCATA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51432298
chr1:51432298 TTATGTAT
others(1): Show 
TTATGTATG
 T
T
 20 a0001c0003t0001g0093
a0002c0001t0006g0028
a0002c0001t0008g0120
others(17): Show 
a0001c0003t0001g0093
a0002c0001t0006g0028
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0005
a0002c0004t0002g0014
a0004c0015t0011g0152
a0006c0010t0026g0129
 20 HG00735.hp2
HG00738.hp1
HG00738.hp2
others(17): Show 
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01109.hp2
HG01175.hp1
HG01516.hp1
HG01517.hp1
HG02258.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02738.hp2
HG02976.hp2
HG03195.hp1
HG03471.hp2
HG03491.hp1
HG03492.hp2
HG04199.hp1
NA19043.hp1
NA20805.hp2
 intron_variant MODIFIER c.1040+8041_1040+804
others(12): Show 
c.1040+8041_1040+8048delCATACATA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51432298
chr1:51432298 TTATGTAT
others(5): Show 
TTATGTATGTATG
 T
T
 18 a0001c0003t0001g0081
a0002c0001t0009g0116
a0002c0001t0010g0041
others(15): Show 
a0001c0003t0001g0081
a0002c0001t0009g0116
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0004t0002g0004
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
 18 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(15): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02109.hp2
HG02486.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03654.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp2
 intron_variant MODIFIER c.1040+8037_1040+804
others(16): Show 
c.1040+8037_1040+8048delCATACATACATA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51432298
chr1:51432298 TTATGTAT
others(9): Show 
TTATGTATGTATGTATG
 T
T
 4 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
others(1): Show 
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0022g0115
 4 HG02630.hp1
HG03453.hp2
HG06807.hp1
others(1): Show 
HG02630.hp1
HG03453.hp2
HG06807.hp1
NA19240.hp2
 intron_variant MODIFIER c.1040+8033_1040+804
others(20): Show 
c.1040+8033_1040+8048delCATACATACATACATA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51432298
chr1:51432346 G
G
 A
A
 2 a0001c0003t0001g0101
a0002c0001t0009g0116
a0001c0003t0001g0101
a0002c0001t0009g0116
 2 HG01952.hp2
NA19030.hp2
HG01952.hp2
NA19030.hp2
 intron_variant MODIFIER c.1040+8001C>T
c.1040+8001C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51432346
chr1:51432449 T
T
 C
C
 1 a0001c0003t0001g0109
a0001c0003t0001g0109
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.1040+7898A>G
c.1040+7898A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51432449
chr1:51432455 A
A
 G
G
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.1040+7892T>C
c.1040+7892T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51432455
chr1:51432587 A
A
 AT
AT
 79 a0001c0002t0001g0114
a0001c0002t0002g0030
a0001c0002t0002g0031
others(76): Show 
a0001c0002t0001g0114
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0001c0003t0001g0096
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 79 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(76): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1040+7759dupA
c.1040+7759dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51432587
chr1:51432670 G
G
 A
A
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.1040+7677C>T
c.1040+7677C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51432670
chr1:51432695 T
T
 C
C
 1 a0002c0004t0002g0013
a0002c0004t0002g0013
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.1040+7652A>G
c.1040+7652A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51432695
chr1:51433203 A
A
 T
T
 9 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(6): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
 9 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(6): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1040+7144T>A
c.1040+7144T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51433203
chr1:51433270 C
C
 CT
CT
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.1040+7076dupA
c.1040+7076dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51433270
chr1:51433561 T
T
 C
C
 5 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(2): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0016g0027
 5 HG02572.hp1
HG03041.hp1
HG03098.hp1
others(2): Show 
HG02572.hp1
HG03041.hp1
HG03098.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.1040+6786A>G
c.1040+6786A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51433561
chr1:51433671 G
G
 A
A
 2 a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0006g0034
a0002c0001t0006g0035
 2 HG03098.hp1
NA18906.hp2
HG03098.hp1
NA18906.hp2
 intron_variant MODIFIER c.1040+6676C>T
c.1040+6676C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51433671
chr1:51434241 T
T
 C
C
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.1040+6106A>G
c.1040+6106A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51434241
chr1:51434403 A
A
 G
G
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.1040+5944T>C
c.1040+5944T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51434403
chr1:51434452 C
C
 A
A
 1 a0009c0012t0007g0136
a0009c0012t0007g0136
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.1040+5895G>T
c.1040+5895G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51434452
chr1:51434654 C
C
 A
A
 3 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
 3 HG02572.hp1
HG03041.hp1
NA18522.hp2
HG02572.hp1
HG03041.hp1
NA18522.hp2
 intron_variant MODIFIER c.1040+5693G>T
c.1040+5693G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51434654
chr1:51434905 G
G
 A
A
 2 a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0001t0023g0151
a0002c0001t0024g0145
 2 HG01175.hp1
HG02258.hp2
HG01175.hp1
HG02258.hp2
 intron_variant MODIFIER c.1040+5442C>T
c.1040+5442C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51434905
chr1:51434957 C
C
 G
G
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.1040+5390G>C
c.1040+5390G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51434957
chr1:51435103 T
T
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1040+5244A>T
c.1040+5244A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51435103
chr1:51435198 C
C
 A
A
 77 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(74): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 77 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(74): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1040+5149G>T
c.1040+5149G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51435198
chr1:51435350 C
C
 T
T
 5 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(2): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0010g0042
a0009c0012t0007g0136
 5 HG00642.hp1
HG01257.hp2
HG02717.hp2
others(2): Show 
HG00642.hp1
HG01257.hp2
HG02717.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.1040+4997G>A
c.1040+4997G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51435350
chr1:51435390 C
C
 T
T
 1 a0001c0002t0001g0086
a0001c0002t0001g0086
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.1040+4957G>A
c.1040+4957G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51435390
chr1:51435444 G
G
 T
T
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.1040+4903C>A
c.1040+4903C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51435444
chr1:51435947 C
C
 T
T
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1040+4400G>A
c.1040+4400G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51435947
chr1:51436204 A
A
 G
G
 9 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(6): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0007c0009t0015g0125
 9 HG02257.hp1
HG02572.hp1
HG03041.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.1040+4143T>C
c.1040+4143T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51436204
chr1:51436354 T
T
 C
C
 3 a0001c0002t0001g0085
a0001c0002t0018g0105
a0001c0002t0019g0055
a0001c0002t0001g0085
a0001c0002t0018g0105
a0001c0002t0019g0055
 3 HG00558.hp2
NA18747.hp2
NA18957.hp2
HG00558.hp2
NA18747.hp2
NA18957.hp2
 intron_variant MODIFIER c.1040+3993A>G
c.1040+3993A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51436354
chr1:51436406 GAA
GAA
 G
G
 77 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(74): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 77 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(74): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1040+3939_1040+394
others(6): Show 
c.1040+3939_1040+3940delTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51436406
chr1:51436494 G
G
 A
A
 1 a0007c0009t0015g0125
a0007c0009t0015g0125
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.1040+3853C>T
c.1040+3853C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51436494
chr1:51436709 T
T
 C
C
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.1040+3638A>G
c.1040+3638A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51436709
chr1:51436729 G
G
 A
A
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.1040+3618C>T
c.1040+3618C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51436729
chr1:51436894 T
T
 G
G
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.1040+3453A>C
c.1040+3453A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51436894
chr1:51436901 A
A
 G
G
 5 a0001c0003t0001g0053
a0001c0003t0001g0081
a0001c0003t0001g0089
others(2): Show 
a0001c0003t0001g0053
a0001c0003t0001g0081
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0003g0054
 5 HG00642.hp2
HG01884.hp1
HG02145.hp2
others(2): Show 
HG00642.hp2
HG01884.hp1
HG02145.hp2
HG02258.hp1
HG03453.hp1
 intron_variant MODIFIER c.1040+3446T>C
c.1040+3446T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51436901
chr1:51437119 G
G
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1040+3228C>A
c.1040+3228C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51437119
chr1:51437269 T
T
 C
C
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.1040+3078A>G
c.1040+3078A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51437269
chr1:51437492 AT
AT
 A
A
 8 a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0003t0001g0097
others(5): Show 
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0003t0001g0097
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0121
a0002c0001t0012g0002
 8 HG00438.hp1
HG00642.hp1
HG01257.hp2
others(5): Show 
HG00438.hp1
HG00642.hp1
HG01257.hp2
HG01515.hp1
HG01517.hp1
NA18747.hp1
NA19043.hp2
NA20129.hp2
 intron_variant MODIFIER c.1040+2854delA
c.1040+2854delA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51437492
chr1:51437640 G
G
 A
A
 1 a0002c0004t0002g0014
a0002c0004t0002g0014
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.1040+2707C>T
c.1040+2707C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51437640
chr1:51437758 C
C
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1040+2589G>A
c.1040+2589G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51437758
chr1:51438165 T
T
 C
C
 77 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(74): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 77 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(74): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1040+2182A>G
c.1040+2182A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51438165
chr1:51438456 T
T
 A
A
 77 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(74): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 77 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(74): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1040+1891A>T
c.1040+1891A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51438456
chr1:51438521 C
C
 T
T
 2 a0001c0002t0001g0079
a0001c0002t0020g0050
a0001c0002t0001g0079
a0001c0002t0020g0050
 2 HG01168.hp2
HG02738.hp1
HG01168.hp2
HG02738.hp1
 intron_variant MODIFIER c.1040+1826G>A
c.1040+1826G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51438521
chr1:51438698 A
A
 G
G
 5 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(2): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0016g0027
 5 HG02572.hp1
HG03041.hp1
HG03098.hp1
others(2): Show 
HG02572.hp1
HG03041.hp1
HG03098.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.1040+1649T>C
c.1040+1649T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51438698
chr1:51438765 T
T
 A
A
 4 a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
others(1): Show 
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 4 HG02109.hp2
HG02717.hp2
HG02818.hp1
others(1): Show 
HG02109.hp2
HG02717.hp2
HG02818.hp1
HG03209.hp2
 intron_variant MODIFIER c.1040+1582A>T
c.1040+1582A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51438765
chr1:51438833 T
T
 C
C
 14 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(11): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 14 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(11): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.1040+1514A>G
c.1040+1514A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51438833
chr1:51438883 G
G
 A
A
 3 a0002c0004t0002g0005
a0002c0004t0002g0014
a0010c0013t0001g0063
a0002c0004t0002g0005
a0002c0004t0002g0014
a0010c0013t0001g0063
 3 HG02738.hp2
HG02970.hp1
HG04199.hp1
HG02738.hp2
HG02970.hp1
HG04199.hp1
 intron_variant MODIFIER c.1040+1464C>T
c.1040+1464C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51438883
chr1:51438919 G
G
 A
A
 1 a0001c0002t0001g0073
a0001c0002t0001g0073
 1 HG03492.hp1
HG03492.hp1
 intron_variant MODIFIER c.1040+1428C>T
c.1040+1428C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51438919
chr1:51439375 A
A
 T
T
 2 a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0126
a0001c0002t0001g0127
 2 HG00438.hp1
NA18747.hp1
HG00438.hp1
NA18747.hp1
 intron_variant MODIFIER c.1040+972T>A
c.1040+972T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51439375
chr1:51439394 G
G
 A
A
 1 a0002c0001t0005g0139
a0002c0001t0005g0139
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.1040+953C>T
c.1040+953C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51439394
chr1:51439586 A
A
 G
G
 1 a0007c0009t0015g0125
a0007c0009t0015g0125
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.1040+761T>C
c.1040+761T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51439586
chr1:51439755 AGCTGAC
AGCTGAC
 A
A
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.1040+586_1040+591d
others(8): Show 
c.1040+586_1040+591delGTCAGC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51439755
chr1:51439868 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.1040+479C>T
c.1040+479C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51439868
chr1:51439985 T
T
 C
C
 1 a0002c0001t0005g0150
a0002c0001t0005g0150
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.1040+362A>G
c.1040+362A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51439985
chr1:51440010 C
C
 T
T
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.1040+337G>A
c.1040+337G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51440010
chr1:51440016 T
T
 C
C
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1040+331A>G
c.1040+331A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51440016
chr1:51440277 C
C
 CTG
CTG
 37 a0001c0002t0001g0051
a0001c0002t0001g0056
a0001c0002t0001g0064
others(34): Show 
a0001c0002t0001g0051
a0001c0002t0001g0056
a0001c0002t0001g0064
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0111
a0001c0002t0001g0113
a0001c0002t0001g0114
a0001c0002t0001g0128
a0001c0002t0003g0059
a0001c0002t0013g0062
a0001c0002t0018g0105
a0001c0002t0019g0055
a0001c0002t0020g0050
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
a0001c0003t0001g0107
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0016g0027
a0003c0005t0001g0017
a0003c0005t0001g0057
a0007c0009t0015g0125
 37 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(34): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01257.hp1
HG01261.hp1
HG01261.hp2
HG01952.hp2
HG02451.hp1
HG02572.hp1
HG02738.hp1
HG03041.hp1
HG03098.hp1
HG03486.hp1
HG03491.hp2
HG03492.hp1
HG03688.hp1
HG03688.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp2
NA18747.hp2
NA18957.hp1
NA18957.hp2
NA19011.hp1
NA19011.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.1040+68_1040+69dup
others(2): Show 
c.1040+68_1040+69dupCA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51440277
chr1:51440277 CTG
CTG
 C
C
 11 a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
others(8): Show 
a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0006t0001g0112
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0123
a0002c0001t0022g0115
a0009c0012t0007g0136
 11 HG00639.hp2
HG00642.hp1
HG00738.hp1
others(8): Show 
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG01257.hp2
HG02615.hp2
HG02647.hp1
HG02818.hp2
HG03130.hp1
HG03471.hp1
HG06807.hp1
NA20129.hp2
 intron_variant MODIFIER c.1040+68_1040+69del
others(2): Show 
c.1040+68_1040+69delCA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51440277
chr1:51440277 CTGTG
CTGTG
 C
C
 38 a0001c0002t0003g0074
a0001c0002t0017g0032
a0002c0001t0004g0018
others(35): Show 
a0001c0002t0003g0074
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0025
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0002
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
a0004c0015t0011g0152
a0006c0010t0026g0129
 38 HG00735.hp1
HG00735.hp2
HG01109.hp2
others(35): Show 
HG00735.hp1
HG00735.hp2
HG01109.hp2
HG01167.hp2
HG01192.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG02109.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp2
HG03471.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
NA18522.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1040+66_1040+69del
others(4): Show 
c.1040+66_1040+69delCACA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51440277
chr1:51440277 CTGTGTG
CTGTGTG
 C
C
 19 a0002c0001t0004g0024
a0002c0001t0004g0038
a0002c0001t0004g0039
others(16): Show 
a0002c0001t0004g0024
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0012g0003
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0008c0011t0025g0140
 19 HG00733.hp2
HG01109.hp1
HG01175.hp1
others(16): Show 
HG00733.hp2
HG01109.hp1
HG01175.hp1
HG01346.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG02630.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.1040+64_1040+69del
others(6): Show 
c.1040+64_1040+69delCACACA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51440277
chr1:51440277 CTGTGTGT
others(1): Show 
CTGTGTGTG
 C
C
 6 a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
others(3): Show 
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0004t0002g0007
a0002c0007t0010g0043
a0005c0008t0002g0033
 6 HG02109.hp2
HG02717.hp2
HG02818.hp1
others(3): Show 
HG02109.hp2
HG02717.hp2
HG02818.hp1
HG02976.hp1
HG03209.hp2
HG06807.hp2
 intron_variant MODIFIER c.1040+62_1040+69del
others(8): Show 
c.1040+62_1040+69delCACACACA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51440277
chr1:51440279 G
G
 C
C
 2 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0002g0030
a0001c0002t0002g0031
 2 HG02630.hp2
NA19240.hp1
HG02630.hp2
NA19240.hp1
 intron_variant MODIFIER c.1040+68C>G
c.1040+68C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51440279
chr1:51440283 G
G
 C
C
 1 a0001c0002t0017g0032
a0001c0002t0017g0032
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1040+64C>G
c.1040+64C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51440283
chr1:51440284 T
T
 C
C
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.1040+63A>G
c.1040+63A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51440284
chr1:51440286 T
T
 C
C
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.1040+61A>G
c.1040+61A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51440286
chr1:51440287 G
G
 C
C
 1 a0005c0008t0002g0033
a0005c0008t0002g0033
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1040+60C>G
c.1040+60C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 12/24 chr1 51440287
chr1:51440962 C
C
 T
T
 8 a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0093
others(5): Show 
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0098
a0001c0003t0001g0108
 8 HG00738.hp2
HG00741.hp1
HG01074.hp2
others(5): Show 
HG00738.hp2
HG00741.hp1
HG01074.hp2
HG01192.hp2
HG01346.hp2
HG02735.hp1
HG03540.hp2
HG04204.hp2
 intron_variant MODIFIER c.955-530G>A
c.955-530G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 11/24 chr1 51440962
chr1:51441230 G
G
 T
T
 5 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(2): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0016g0027
 5 HG02572.hp1
HG03041.hp1
HG03098.hp1
others(2): Show 
HG02572.hp1
HG03041.hp1
HG03098.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.955-798C>A
c.955-798C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 11/24 chr1 51441230
chr1:51441640 A
A
 C
C
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.955-1208T>G
c.955-1208T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 11/24 chr1 51441640
chr1:51442404 T
T
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.955-1972A>G
c.955-1972A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 11/24 chr1 51442404
chr1:51442595 AT
AT
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.955-2164delA
c.955-2164delA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 11/24 chr1 51442595
chr1:51443116 T
T
 C
C
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.954+1773A>G
c.954+1773A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 11/24 chr1 51443116
chr1:51443212 A
A
 C
C
 1 a0001c0002t0001g0079
a0001c0002t0001g0079
 1 HG01168.hp2
HG01168.hp2
 intron_variant MODIFIER c.954+1677T>G
c.954+1677T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 11/24 chr1 51443212
chr1:51443303 GA
GA
 G
G
 9 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(6): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0007c0009t0015g0125
 9 HG02257.hp1
HG02572.hp1
HG03041.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.954+1585delT
c.954+1585delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 11/24 chr1 51443303
chr1:51443304 A
A
 G
G
 9 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(6): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
 9 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(6): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.954+1585T>C
c.954+1585T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 11/24 chr1 51443304
chr1:51443633 TTTTC
TTTTC
 T
T
 149 a0001c0002t0001g0026
a0001c0002t0001g0045
a0001c0002t0001g0046
others(146): Show 
a0001c0002t0001g0026
a0001c0002t0001g0045
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0051
a0001c0002t0001g0052
a0001c0002t0001g0056
a0001c0002t0001g0064
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0111
a0001c0002t0001g0113
a0001c0002t0001g0114
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0003g0049
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0003g0061
a0001c0002t0003g0069
a0001c0002t0003g0070
a0001c0002t0003g0074
a0001c0002t0003g0076
a0001c0002t0003g0077
a0001c0002t0013g0062
a0001c0002t0013g0065
a0001c0002t0017g0032
a0001c0002t0018g0105
a0001c0002t0019g0055
a0001c0002t0020g0050
a0001c0003t0001g0053
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0068
a0001c0003t0001g0081
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
a0001c0003t0001g0102
a0001c0003t0001g0103
a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0003t0001g0109
a0001c0003t0001g0110
a0001c0003t0003g0054
a0001c0006t0001g0104
a0001c0006t0001g0112
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0003c0005t0001g0017
a0003c0005t0001g0057
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
a0010c0013t0001g0063
 149 HG00438.hp1
HG00438.hp2
HG00558.hp1
others(146): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03834.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18957.hp1
NA18957.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.954+1252_954+1255d
others(6): Show 
c.954+1252_954+1255delGAAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 11/24 chr1 51443633
chr1:51443860 T
T
 C
C
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.954+1029A>G
c.954+1029A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 11/24 chr1 51443860
chr1:51444113 A
A
 G
G
 1 a0001c0002t0003g0059
a0001c0002t0003g0059
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.954+776T>C
c.954+776T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 11/24 chr1 51444113
chr1:51444528 G
G
 T
T
 2 a0001c0002t0017g0032
a0005c0008t0002g0033
a0001c0002t0017g0032
a0005c0008t0002g0033
 2 HG02717.hp1
HG02976.hp1
HG02717.hp1
HG02976.hp1
 intron_variant MODIFIER c.954+361C>A
c.954+361C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 11/24 chr1 51444528
chr1:51444770 T
T
 A
A
 2 a0002c0001t0009g0116
a0002c0001t0022g0115
a0002c0001t0009g0116
a0002c0001t0022g0115
 2 HG06807.hp1
NA19030.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.954+119A>T
c.954+119A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 11/24 chr1 51444770
chr1:51445106 A
A
 G
G
 4 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(1): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0005c0008t0002g0033
 4 HG02630.hp2
HG02717.hp1
HG02976.hp1
others(1): Show 
HG02630.hp2
HG02717.hp1
HG02976.hp1
NA19240.hp1
 intron_variant MODIFIER c.798-61T>C
c.798-61T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 10/24 chr1 51445106
chr1:51445797 C
C
 T
T
 12 a0001c0002t0001g0064
a0001c0002t0001g0078
a0001c0002t0001g0082
others(9): Show 
a0001c0002t0001g0064
a0001c0002t0001g0078
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0113
a0001c0002t0001g0114
a0001c0002t0001g0126
a0001c0002t0001g0127
a0003c0005t0001g0017
a0003c0005t0001g0057
 12 HG00438.hp1
HG01175.hp2
HG01257.hp1
others(9): Show 
HG00438.hp1
HG01175.hp2
HG01257.hp1
HG03491.hp2
HG03654.hp2
HG03688.hp1
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18957.hp1
NA19011.hp1
NA20752.hp2
 intron_variant MODIFIER c.798-752G>A
c.798-752G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 10/24 chr1 51445797
chr1:51445886 A
A
 G
G
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.798-841T>C
c.798-841T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 10/24 chr1 51445886
chr1:51446113 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.797+847C>T
c.797+847C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 10/24 chr1 51446113
chr1:51446275 T
T
 G
G
 14 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(11): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 14 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(11): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.797+685A>C
c.797+685A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 10/24 chr1 51446275
chr1:51446453 C
C
 CT
CT
 32 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(29): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0137
a0002c0007t0010g0043
a0008c0011t0025g0140
 32 HG00733.hp2
HG00735.hp1
HG01109.hp1
others(29): Show 
HG00733.hp2
HG00735.hp1
HG01109.hp1
HG01175.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp2
HG03654.hp1
NA19030.hp1
NA19240.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.797+506dupA
c.797+506dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 10/24 chr1 51446453
chr1:51446485 T
T
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.797+475A>G
c.797+475A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 10/24 chr1 51446485
chr1:51446572 C
C
 G
G
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.797+388G>C
c.797+388G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 10/24 chr1 51446572
chr1:51446598 C
C
 A
A
 2 a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0006g0034
a0002c0001t0006g0035
 2 HG03098.hp1
NA18906.hp2
HG03098.hp1
NA18906.hp2
 intron_variant MODIFIER c.797+362G>T
c.797+362G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 10/24 chr1 51446598
chr1:51446660 G
G
 A
A
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.797+300C>T
c.797+300C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 10/24 chr1 51446660
chr1:51446744 C
C
 T
T
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.797+216G>A
c.797+216G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 10/24 chr1 51446744
chr1:51446778 T
T
 G
G
 14 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(11): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 14 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(11): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.797+182A>C
c.797+182A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 10/24 chr1 51446778
chr1:51447485 T
T
 C
C
 1 a0001c0002t0001g0048
a0001c0002t0001g0048
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.652-380A>G
c.652-380A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 9/24 chr1 51447485
chr1:51447520 T
T
 A
A
 1 a0002c0001t0005g0144
a0002c0001t0005g0144
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.652-415A>T
c.652-415A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 9/24 chr1 51447520
chr1:51447616 G
G
 C
C
 1 a0002c0001t0005g0143
a0002c0001t0005g0143
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.651+430C>G
c.651+430C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 9/24 chr1 51447616
chr1:51447815 C
C
 A
A
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.651+231G>T
c.651+231G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 9/24 chr1 51447815
chr1:51447856 C
C
 T
T
 1 a0001c0003t0001g0090
a0001c0003t0001g0090
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.651+190G>A
c.651+190G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 9/24 chr1 51447856
chr1:51447892 T
T
 C
C
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.651+154A>G
c.651+154A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 9/24 chr1 51447892
chr1:51447900 T
T
 TA
TA
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.651+145dupT
c.651+145dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 9/24 chr1 51447900
chr1:51447946 G
G
 A
A
 1 a0007c0009t0015g0125
a0007c0009t0015g0125
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.651+100C>T
c.651+100C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 9/24 chr1 51447946
chr1:51448023 C
C
 T
T
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.651+23G>A
c.651+23G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 9/24 chr1 51448023
chr1:51448309 G
G
 GAAAGAAA
others(2): Show 
GAAAGAAAAA
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.562-175_562-174ins
others(9): Show 
c.562-175_562-174insTTTTTCTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51448309
chr1:51448313 GAAAT
GAAAT
 G
G
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.562-182_562-179del
others(4): Show 
c.562-182_562-179delATTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51448313
chr1:51448317 T
T
 G
G
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.562-182A>C
c.562-182A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51448317
chr1:51448322 A
A
 C
C
 4 a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
others(1): Show 
a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
 4 HG00639.hp2
HG02647.hp1
HG02818.hp2
others(1): Show 
HG00639.hp2
HG02647.hp1
HG02818.hp2
HG03471.hp1
 intron_variant MODIFIER c.562-187T>G
c.562-187T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51448322
chr1:51448859 T
T
 C
C
 7 a0002c0001t0005g0139
a0002c0001t0005g0142
a0002c0001t0005g0146
others(4): Show 
a0002c0001t0005g0139
a0002c0001t0005g0142
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 7 HG01175.hp1
HG02055.hp2
HG02257.hp2
others(4): Show 
HG01175.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG03209.hp1
NA20300.hp1
 intron_variant MODIFIER c.562-724A>G
c.562-724A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51448859
chr1:51449215 T
T
 TA
TA
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.562-1081dupT
c.562-1081dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51449215
chr1:51449234 T
T
 C
C
 2 a0001c0002t0001g0079
a0001c0002t0020g0050
a0001c0002t0001g0079
a0001c0002t0020g0050
 2 HG01168.hp2
HG02738.hp1
HG01168.hp2
HG02738.hp1
 intron_variant MODIFIER c.562-1099A>G
c.562-1099A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51449234
chr1:51449263 AAAC
AAAC
 A
A
 5 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(2): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0016g0027
 5 HG02572.hp1
HG03041.hp1
HG03098.hp1
others(2): Show 
HG02572.hp1
HG03041.hp1
HG03098.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.562-1131_562-1129d
others(5): Show 
c.562-1131_562-1129delGTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51449263
chr1:51449355 A
A
 G
G
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.562-1220T>C
c.562-1220T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51449355
chr1:51449479 TATTAAAT
others(2297): Show 
TATTAAATGAATGACAAAATAATCTGCACACCAAACCCCGTGACATGCAA
TTTACCTATATAACAAACCTGTACATGTACCCCTGAACCTAAAATAAGAG
TTAAAAAAATTCATTGTTCTTTGTTAAAGATGCTATATTAGGCTAAGTTT
CTTTTGCAGTAAAGGAAGAGTTTAATTGATGCAAAACTGGCCACACCACA
CGGAAGACAGAGTTATTACTCAAATCAATCTCCCCAAGAATTTGGGGGCT
AGGGTTTTTCAGACAGTTTGGGGAAGGGGTGGGGGTGGCTAGGCAATGGG
TGCTTGCTGCTGACTGGCTGAGGGTGCAATCTTGGGGTACGGGAAATTGT
CCTCCTGTGCATTGAATGGCTTCTGGGTGGGACCACAGGAACAAGTCCAG
GAGGAAGCCATGGTTGCAAAAAACTCCAAGTGCAGGGCAGCTTGATTCCA
GGGTGTGGAAAAGGCATAAGGGAGGCTCCACTGAAGATTCAGTAGGAAAA
TTACATGGCCTCGCTGTGAGTGCCTGGCCCGTGGCTGGATGTCAGATGCT
GCTCTTCTTCTCTTTCTTACTGGATCACTCAAGAGATGGCCAAGGAGGTA
TTCCTAATAGCTCAGAATTTGGAGAGGATGTGTTCTGGTATTTTTGGGCT
TCAGCTAGCTGTGGTGAAGGATTGGGCACAACGTGGGACATAAGGCTCCC
AACTGCTACCCTGCAGGAGCCAGGGCACTCCTGGGCAGCTCCTAGGATGG
AAAGGCCACACTGGGGGGGGCTGTATTTTAGTCCGTTTTTGTATTGCTAT
AAATAAATACCTAAGGCTGGGTAATTTATAAAGAAAACAGGCTTAACTGG
CTCACAGTTCTGCAGGGTGTACCAAGATGGCTCCAGCATCTGCCTCTCAT
GAGGCCTCAGGGAGCATCCAATCATGGCAGAAGGCAAAGGGGGTGCAGAC
GTGTCACATGGCAAGAGCAGGAGCAAGAGCAAACCTGAGTTGTAAGCCAC
CTATTTGACAGTTACTCCTTTCCTGAGTTTCTTCCATGTATATATGAAAT
ATACATGTTAATAAACTTCTGTTTTTCTCTTATCTTTTGTTACAGGGTTC
TCAGCCAAGAACTTAAAAGGGTATAGGAAAAATTATTTTTCTTCCCCTAA
CATGCTCAAATTGGTACCACCCCTATGAAGGGCAAACTGGCAACATCTAC
CAAATTGCAAATGTGTTTCCCCTTCGGCTCTGCAATCCCACATCTGGGAA
TCTATCCATATGAAATGCTGTATGAAAAAGATTAATTGCAGCACCGTTTG
TATCAGCACCCAAATGCCCATCTACAAAACCTGGTTTAAAAAATTATGGT
ATACTCTACACTGGGAAGTTAAGGTAAAAAAATTATTTTTAAAAATGGTA
TATCCATATAATGAAATACTATAAAGCATTAAAAAAATCACAAAGAACAT
TGTGTGTCTTAACTGTGGTGGTGCCTTCAGGCATATAATTGCCAAAACTC
ATCAAATTATATACTTAAATTGGATGCAGTTTGTTGTGGATAGCCTTGAA
TAATGCTAACCAGGAAAAAAAGAATCATGGAGCTCTCATAGTGAAAAGGT
ATCCAAGATAAACTGTTAACTATGAAAAAGTATAGTGTTGAACAGTGTGT
TTAGTGGGTTATCTTTTGTGGTAAGGAGGAAATAATTAGTTATATTTGTT
TATATTTGCATTAAGAAATTCTAAGATAGGCTGGGCGTGGTGGCTCACGC
CTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTC
AGGAGTTCGAAACCAGCCTGGCCAACATGGTAAAACTCCATCTCTACTAA
AAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTGTAATCCCAGC
TACTTGGGAGGCTGGGGCAGGAGAATTGATTGACCTTGGGAGGTGGAGAC
TGCAATGACCTGAGATTGTGCCACTGCACTCCAGCCTGGGAAACAGAGAG
AGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAA
AAAAAAAGAAATTCTAAGATAAATAAGAAATTAAGAAAATTAGGCATAGA
ATAGGGATAAATGGAGCAATTGAGAGCAGGGGTGGAAATGAGATTTTTTT
CACTGTATATCTTCTTATATTGATTCTTGAACCATGACAAGTATTTTTAA
TACATAAAGCACTTGCACAAAATGGGAAAAATTTGCATACAGACTGTCCC
AGAATATATTCTCTTCATTTTAAAGCATTCAAGGTACCTTCAACACTTTC
AGAGC
 T
T
 4 a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
others(1): Show 
a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
 4 HG00639.hp2
HG02647.hp1
HG02818.hp2
others(1): Show 
HG00639.hp2
HG02647.hp1
HG02818.hp2
HG03471.hp1
 intron_variant MODIFIER c.562-3648_562-1345d
others(2): Show 
c.562-3648_562-1345del
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51449479
chr1:51449513 A
A
 G
G
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.562-1378T>C
c.562-1378T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51449513
chr1:51449625 G
G
 GTTCT
GTTCT
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.562-1491_562-1490i
others(6): Show 
c.562-1491_562-1490insAGAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51449625
chr1:51449905 C
C
 T
T
 1 a0001c0002t0001g0064
a0001c0002t0001g0064
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.562-1770G>A
c.562-1770G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51449905
chr1:51450025 T
T
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.562-1890A>G
c.562-1890A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51450025
chr1:51450027 C
C
 A
A
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.562-1892G>T
c.562-1892G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51450027
chr1:51450066 G
G
 A
A
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.562-1931C>T
c.562-1931C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51450066
chr1:51450160 C
C
 T
T
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.562-2025G>A
c.562-2025G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51450160
chr1:51450243 G
G
 C
C
 25 a0001c0003t0001g0053
a0001c0003t0001g0066
a0001c0003t0001g0067
others(22): Show 
a0001c0003t0001g0053
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0068
a0001c0003t0001g0081
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
a0001c0003t0001g0102
a0001c0003t0001g0103
a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0003t0001g0109
a0001c0003t0001g0110
a0001c0003t0003g0054
a0001c0006t0001g0104
a0001c0006t0001g0112
 25 HG00642.hp2
HG00733.hp1
HG00738.hp2
others(22): Show 
HG00642.hp2
HG00733.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01167.hp1
HG01168.hp1
HG01192.hp2
HG01261.hp1
HG01346.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01952.hp2
HG02145.hp2
HG02258.hp1
HG02615.hp2
HG02735.hp1
HG03453.hp1
HG03540.hp2
HG03834.hp1
HG03834.hp2
HG04115.hp1
HG04204.hp2
 intron_variant MODIFIER c.562-2108C>G
c.562-2108C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51450243
chr1:51450417 G
G
 T
T
 1 a0007c0009t0015g0125
a0007c0009t0015g0125
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.562-2282C>A
c.562-2282C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51450417
chr1:51450563 T
T
 C
C
 1 a0001c0002t0001g0092
a0001c0002t0001g0092
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.562-2428A>G
c.562-2428A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51450563
chr1:51450693 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.562-2558C>T
c.562-2558C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51450693
chr1:51450825 T
T
 C
C
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.562-2690A>G
c.562-2690A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51450825
chr1:51451030 A
A
 G
G
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.562-2895T>C
c.562-2895T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51451030
chr1:51451110 A
A
 G
G
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.562-2975T>C
c.562-2975T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51451110
chr1:51451214 C
C
 T
T
 3 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
 3 HG02572.hp1
HG03041.hp1
NA18522.hp2
HG02572.hp1
HG03041.hp1
NA18522.hp2
 intron_variant MODIFIER c.562-3079G>A
c.562-3079G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51451214
chr1:51451227 G
G
 A
A
 2 a0001c0002t0001g0091
a0001c0002t0001g0111
a0001c0002t0001g0091
a0001c0002t0001g0111
 2 HG04115.hp2
HG04228.hp2
HG04115.hp2
HG04228.hp2
 intron_variant MODIFIER c.562-3092C>T
c.562-3092C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51451227
chr1:51451280 G
G
 C
C
 2 a0002c0004t0002g0005
a0002c0004t0002g0014
a0002c0004t0002g0005
a0002c0004t0002g0014
 2 HG02738.hp2
HG04199.hp1
HG02738.hp2
HG04199.hp1
 intron_variant MODIFIER c.562-3145C>G
c.562-3145C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51451280
chr1:51451407 A
A
 C
C
 77 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(74): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 77 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(74): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.562-3272T>G
c.562-3272T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51451407
chr1:51451452 C
C
 T
T
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.562-3317G>A
c.562-3317G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51451452
chr1:51451490 C
C
 CA
CA
 20 a0001c0002t0001g0056
a0002c0001t0004g0018
a0002c0001t0004g0019
others(17): Show 
a0001c0002t0001g0056
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
a0002c0001t0005g0143
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0005c0008t0002g0033
 20 HG00733.hp2
HG00735.hp1
HG00738.hp1
others(17): Show 
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01109.hp1
HG01192.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG02109.hp1
HG02559.hp2
HG02922.hp2
HG02976.hp1
HG03195.hp1
HG03471.hp2
HG04199.hp2
NA19043.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.562-3356dupT
c.562-3356dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51451490
chr1:51451490 CA
CA
 C
C
 14 a0001c0002t0001g0082
a0002c0004t0002g0004
a0002c0004t0002g0005
others(11): Show 
a0001c0002t0001g0082
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03491.hp2
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.562-3356delT
c.562-3356delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51451490
chr1:51451490 CAAAAAA
CAAAAAA
 C
C
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.562-3361_562-3356d
others(8): Show 
c.562-3361_562-3356delTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51451490
chr1:51451505 A
A
 AAAAAAGA
others(3): Show 
AAAAAAGAAAG
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.562-3371_562-3370i
others(12): Show 
c.562-3371_562-3370insCTTTCTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51451505
chr1:51451509 G
G
 A
A
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.562-3374C>T
c.562-3374C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51451509
chr1:51451546 G
G
 C
C
 1 a0002c0001t0005g0139
a0002c0001t0005g0139
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.562-3411C>G
c.562-3411C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51451546
chr1:51451572 G
G
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.562-3437C>A
c.562-3437C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51451572
chr1:51451778 C
C
 T
T
 1 a0009c0012t0007g0136
a0009c0012t0007g0136
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.562-3643G>A
c.562-3643G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51451778
chr1:51451866 G
G
 A
A
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.562-3731C>T
c.562-3731C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51451866
chr1:51451902 C
C
 CTTTTTTT
others(2): Show 
CTTTTTTTTT
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.562-3776_562-3768d
others(11): Show 
c.562-3776_562-3768dupAAAAAAAAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51451902
chr1:51451902 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.562-3768_562-3767i
others(12): Show 
c.562-3768_562-3767insAAAAAAAAAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51451902
chr1:51452030 C
C
 T
T
 5 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(2): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0016g0027
 5 HG02572.hp1
HG03041.hp1
HG03098.hp1
others(2): Show 
HG02572.hp1
HG03041.hp1
HG03098.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.562-3895G>A
c.562-3895G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51452030
chr1:51452099 G
G
 T
T
 25 a0001c0003t0001g0053
a0001c0003t0001g0066
a0001c0003t0001g0067
others(22): Show 
a0001c0003t0001g0053
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0068
a0001c0003t0001g0081
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
a0001c0003t0001g0102
a0001c0003t0001g0103
a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0003t0001g0109
a0001c0003t0001g0110
a0001c0003t0003g0054
a0001c0006t0001g0104
a0001c0006t0001g0112
 25 HG00642.hp2
HG00733.hp1
HG00738.hp2
others(22): Show 
HG00642.hp2
HG00733.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01167.hp1
HG01168.hp1
HG01192.hp2
HG01261.hp1
HG01346.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01952.hp2
HG02145.hp2
HG02258.hp1
HG02615.hp2
HG02735.hp1
HG03453.hp1
HG03540.hp2
HG03834.hp1
HG03834.hp2
HG04115.hp1
HG04204.hp2
 intron_variant MODIFIER c.562-3964C>A
c.562-3964C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51452099
chr1:51452269 TATTTA
TATTTA
 T
T
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.562-4139_562-4135d
others(7): Show 
c.562-4139_562-4135delTAAAT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51452269
chr1:51452441 C
C
 T
T
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.562-4306G>A
c.562-4306G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51452441
chr1:51452697 C
C
 G
G
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.562-4562G>C
c.562-4562G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51452697
chr1:51452793 C
C
 T
T
 2 a0002c0001t0009g0116
a0002c0001t0022g0115
a0002c0001t0009g0116
a0002c0001t0022g0115
 2 HG06807.hp1
NA19030.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.562-4658G>A
c.562-4658G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51452793
chr1:51452879 G
G
 C
C
 1 a0001c0002t0001g0051
a0001c0002t0001g0051
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.562-4744C>G
c.562-4744C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51452879
chr1:51452905 C
C
 G
G
 5 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(2): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0016g0027
 5 HG02572.hp1
HG03041.hp1
HG03098.hp1
others(2): Show 
HG02572.hp1
HG03041.hp1
HG03098.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.562-4770G>C
c.562-4770G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51452905
chr1:51453149 T
T
 C
C
 1 a0001c0002t0001g0082
a0001c0002t0001g0082
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.562-5014A>G
c.562-5014A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51453149
chr1:51453341 C
C
 T
T
 17 a0001c0002t0001g0051
a0001c0002t0001g0056
a0001c0002t0001g0072
others(14): Show 
a0001c0002t0001g0051
a0001c0002t0001g0056
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0088
a0001c0002t0001g0091
a0001c0002t0001g0111
a0001c0002t0001g0128
a0001c0002t0013g0062
a0001c0002t0013g0065
a0001c0002t0018g0105
a0001c0002t0019g0055
a0001c0002t0020g0050
 17 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(14): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00741.hp2
HG01168.hp2
HG01261.hp2
HG01952.hp1
HG02738.hp1
HG03492.hp1
HG03688.hp2
HG04115.hp2
HG04199.hp2
HG04228.hp2
NA18747.hp2
NA18957.hp2
NA19011.hp2
NA20752.hp1
 intron_variant MODIFIER c.562-5206G>A
c.562-5206G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51453341
chr1:51453580 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.562-5445C>T
c.562-5445C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51453580
chr1:51453591 C
C
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.562-5456G>A
c.562-5456G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51453591
chr1:51453660 T
T
 G
G
 1 a0001c0002t0001g0082
a0001c0002t0001g0082
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.562-5525A>C
c.562-5525A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51453660
chr1:51453994 G
G
 A
A
 1 a0010c0013t0001g0063
a0010c0013t0001g0063
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.562-5859C>T
c.562-5859C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51453994
chr1:51454041 C
C
 CT
CT
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.562-5907dupA
c.562-5907dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51454041
chr1:51454045 G
G
 A
A
 5 a0001c0003t0001g0053
a0001c0003t0001g0081
a0001c0003t0001g0089
others(2): Show 
a0001c0003t0001g0053
a0001c0003t0001g0081
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0003g0054
 5 HG00642.hp2
HG01884.hp1
HG02145.hp2
others(2): Show 
HG00642.hp2
HG01884.hp1
HG02145.hp2
HG02258.hp1
HG03453.hp1
 intron_variant MODIFIER c.562-5910C>T
c.562-5910C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51454045
chr1:51454049 CA
CA
 C
C
 7 a0001c0002t0001g0079
a0001c0002t0003g0069
a0001c0003t0001g0053
others(4): Show 
a0001c0002t0001g0079
a0001c0002t0003g0069
a0001c0003t0001g0053
a0002c0001t0004g0040
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
 7 HG00642.hp2
HG01168.hp2
HG02572.hp1
others(4): Show 
HG00642.hp2
HG01168.hp2
HG02572.hp1
HG03041.hp1
HG03453.hp2
NA18522.hp2
NA18906.hp1
 intron_variant MODIFIER c.562-5915delT
c.562-5915delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51454049
chr1:51454049 CAA
CAA
 C
C
 16 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0005g0150
others(13): Show 
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0005g0150
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0022g0115
a0002c0007t0010g0043
a0007c0009t0015g0125
 16 HG00735.hp2
HG01891.hp2
HG02109.hp2
others(13): Show 
HG00735.hp2
HG01891.hp2
HG02109.hp2
HG02257.hp1
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.562-5916_562-5915d
others(4): Show 
c.562-5916_562-5915delTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51454049
chr1:51454049 CAAA
CAAA
 C
C
 22 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(19): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0004c0015t0011g0152
a0008c0011t0025g0140
 22 HG00738.hp1
HG01109.hp1
HG01175.hp1
others(19): Show 
HG00738.hp1
HG01109.hp1
HG01175.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA19043.hp1
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.562-5917_562-5915d
others(5): Show 
c.562-5917_562-5915delTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51454049
chr1:51454049 CAAAA
CAAAA
 C
C
 7 a0002c0001t0004g0018
a0002c0001t0007g0133
a0002c0001t0007g0134
others(4): Show 
a0002c0001t0004g0018
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0006c0010t0026g0129
a0009c0012t0007g0136
 7 HG00642.hp1
HG00735.hp1
HG01109.hp2
others(4): Show 
HG00642.hp1
HG00735.hp1
HG01109.hp2
HG01257.hp2
HG03130.hp1
HG03471.hp2
NA20129.hp2
 intron_variant MODIFIER c.562-5918_562-5915d
others(6): Show 
c.562-5918_562-5915delTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51454049
chr1:51454049 CAAAAA
CAAAAA
 C
C
 8 a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
others(5): Show 
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
 8 HG00733.hp2
HG01192.hp1
HG01515.hp2
others(5): Show 
HG00733.hp2
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.562-5919_562-5915d
others(7): Show 
c.562-5919_562-5915delTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51454049
chr1:51454049 CAAAAAAA
CAAAAAAA
 C
C
 13 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(10): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 13 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(10): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.562-5921_562-5915d
others(9): Show 
c.562-5921_562-5915delTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51454049
chr1:51454072 A
A
 C
C
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.562-5937T>G
c.562-5937T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51454072
chr1:51454144 C
C
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.562-6009G>A
c.562-6009G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51454144
chr1:51454374 GAAT
GAAT
 G
G
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.562-6242_562-6240d
others(5): Show 
c.562-6242_562-6240delATT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51454374
chr1:51454831 T
T
 C
C
 1 a0002c0001t0005g0146
a0002c0001t0005g0146
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.561+6260A>G
c.561+6260A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51454831
chr1:51454849 GAA
GAA
 G
G
 2 a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0006g0034
a0002c0001t0006g0035
 2 HG03098.hp1
NA18906.hp2
HG03098.hp1
NA18906.hp2
 intron_variant MODIFIER c.561+6240_561+6241d
others(4): Show 
c.561+6240_561+6241delTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51454849
chr1:51454858 G
G
 A
A
 1 a0005c0008t0002g0033
a0005c0008t0002g0033
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.561+6233C>T
c.561+6233C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51454858
chr1:51454932 AG
AG
 A
A
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.561+6158delC
c.561+6158delC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51454932
chr1:51455058 T
T
 C
C
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.561+6033A>G
c.561+6033A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51455058
chr1:51455100 C
C
 T
T
 4 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(1): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0005c0008t0002g0033
 4 HG02630.hp2
HG02717.hp1
HG02976.hp1
others(1): Show 
HG02630.hp2
HG02717.hp1
HG02976.hp1
NA19240.hp1
 intron_variant MODIFIER c.561+5991G>A
c.561+5991G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51455100
chr1:51455310 T
T
 TTGAC
TTGAC
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.561+5780_561+5781i
others(6): Show 
c.561+5780_561+5781insGTCA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51455310
chr1:51455322 A
A
 G
G
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.561+5769T>C
c.561+5769T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51455322
chr1:51455496 A
A
 G
G
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.561+5595T>C
c.561+5595T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51455496
chr1:51455531 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.561+5560C>T
c.561+5560C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51455531
chr1:51455579 CA
CA
 C
C
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.561+5511delT
c.561+5511delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51455579
chr1:51455633 G
G
 A
A
 7 a0002c0001t0005g0138
a0002c0001t0005g0141
a0002c0001t0005g0143
others(4): Show 
a0002c0001t0005g0138
a0002c0001t0005g0141
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
 7 HG01109.hp1
HG01884.hp2
HG01891.hp2
others(4): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp2
HG02615.hp1
HG03139.hp1
HG03486.hp2
NA19030.hp1
 intron_variant MODIFIER c.561+5458C>T
c.561+5458C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51455633
chr1:51455767 C
C
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.561+5324G>A
c.561+5324G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51455767
chr1:51455933 C
C
 T
T
 1 a0001c0002t0003g0061
a0001c0002t0003g0061
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.561+5158G>A
c.561+5158G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51455933
chr1:51455945 T
T
 A
A
 17 a0001c0002t0001g0080
a0001c0002t0001g0088
a0002c0001t0004g0025
others(14): Show 
a0001c0002t0001g0080
a0001c0002t0001g0088
a0002c0001t0004g0025
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 17 HG00639.hp1
HG01167.hp2
HG01346.hp1
others(14): Show 
HG00639.hp1
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA20752.hp1
 intron_variant MODIFIER c.561+5146A>T
c.561+5146A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51455945
chr1:51455946 A
A
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.561+5145T>A
c.561+5145T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51455946
chr1:51456027 A
A
 G
G
 1 a0002c0001t0022g0115
a0002c0001t0022g0115
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.561+5064T>C
c.561+5064T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51456027
chr1:51456178 G
G
 A
A
 5 a0002c0001t0004g0040
a0002c0001t0010g0041
a0002c0001t0010g0042
others(2): Show 
a0002c0001t0004g0040
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 5 HG02109.hp2
HG02717.hp2
HG02818.hp1
others(2): Show 
HG02109.hp2
HG02717.hp2
HG02818.hp1
HG03209.hp2
HG03453.hp2
 intron_variant MODIFIER c.561+4913C>T
c.561+4913C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51456178
chr1:51456358 G
G
 A
A
 4 a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
others(1): Show 
a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
 4 HG00639.hp2
HG02647.hp1
HG02818.hp2
others(1): Show 
HG00639.hp2
HG02647.hp1
HG02818.hp2
HG03471.hp1
 intron_variant MODIFIER c.561+4733C>T
c.561+4733C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51456358
chr1:51456399 G
G
 C
C
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.561+4692C>G
c.561+4692C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51456399
chr1:51456406 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.561+4685C>T
c.561+4685C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51456406
chr1:51456626 G
G
 A
A
 1 a0001c0002t0001g0113
a0001c0002t0001g0113
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.561+4465C>T
c.561+4465C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51456626
chr1:51456778 T
T
 G
G
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.561+4313A>C
c.561+4313A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51456778
chr1:51456963 A
A
 G
G
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.561+4128T>C
c.561+4128T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51456963
chr1:51456977 G
G
 C
C
 1 a0001c0003t0001g0090
a0001c0003t0001g0090
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.561+4114C>G
c.561+4114C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51456977
chr1:51456999 G
G
 C
C
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.561+4092C>G
c.561+4092C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51456999
chr1:51457057 G
G
 A
A
 1 a0002c0001t0009g0116
a0002c0001t0009g0116
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.561+4034C>T
c.561+4034C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51457057
chr1:51457102 A
A
 G
G
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.561+3989T>C
c.561+3989T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51457102
chr1:51457113 G
G
 A
A
 2 a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0007
a0002c0004t0002g0008
 2 HG02723.hp2
HG06807.hp2
HG02723.hp2
HG06807.hp2
 intron_variant MODIFIER c.561+3978C>T
c.561+3978C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51457113
chr1:51457201 G
G
 A
A
 1 a0007c0009t0015g0125
a0007c0009t0015g0125
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.561+3890C>T
c.561+3890C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51457201
chr1:51457204 G
G
 A
A
 5 a0001c0003t0001g0053
a0001c0003t0001g0081
a0001c0003t0001g0089
others(2): Show 
a0001c0003t0001g0053
a0001c0003t0001g0081
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0003g0054
 5 HG00642.hp2
HG01884.hp1
HG02145.hp2
others(2): Show 
HG00642.hp2
HG01884.hp1
HG02145.hp2
HG02258.hp1
HG03453.hp1
 intron_variant MODIFIER c.561+3887C>T
c.561+3887C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51457204
chr1:51457244 G
G
 A
A
 1 a0002c0001t0004g0040
a0002c0001t0004g0040
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.561+3847C>T
c.561+3847C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51457244
chr1:51457266 A
A
 G
G
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.561+3825T>C
c.561+3825T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51457266
chr1:51457342 A
A
 G
G
 2 a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0014g0036
a0002c0001t0014g0037
 2 HG02451.hp2
HG02976.hp2
HG02451.hp2
HG02976.hp2
 intron_variant MODIFIER c.561+3749T>C
c.561+3749T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51457342
chr1:51457510 CT
CT
 C
C
 35 a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
others(32): Show 
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0014g0036
a0002c0001t0021g0147
a0002c0001t0024g0145
a0002c0004t0002g0013
a0002c0007t0010g0043
a0005c0008t0002g0033
a0008c0011t0025g0140
 35 HG00733.hp2
HG00735.hp1
HG00738.hp1
others(32): Show 
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01109.hp1
HG01175.hp1
HG01192.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp2
HG02486.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02818.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.561+3580delA
c.561+3580delA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51457510
chr1:51457510 CTT
CTT
 C
C
 8 a0001c0002t0002g0030
a0001c0002t0002g0031
a0002c0001t0005g0150
others(5): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0002c0001t0005g0150
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0002
a0002c0001t0023g0151
a0007c0009t0015g0125
 8 HG01891.hp2
HG02258.hp2
HG02630.hp2
others(5): Show 
HG01891.hp2
HG02258.hp2
HG02630.hp2
HG03098.hp1
HG03486.hp1
NA18906.hp2
NA19043.hp2
NA19240.hp1
 intron_variant MODIFIER c.561+3579_561+3580d
others(4): Show 
c.561+3579_561+3580delAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51457510
chr1:51457510 CTTT
CTTT
 C
C
 8 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0009g0116
others(5): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0016g0027
a0002c0001t0022g0115
 8 HG00735.hp2
HG02572.hp1
HG03041.hp1
others(5): Show 
HG00735.hp2
HG02572.hp1
HG03041.hp1
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA18522.hp2
NA19030.hp2
 intron_variant MODIFIER c.561+3578_561+3580d
others(5): Show 
c.561+3578_561+3580delAAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51457510
chr1:51457535 TC
TC
 T
T
 3 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
 3 HG00642.hp1
HG01257.hp2
NA20129.hp2
HG00642.hp1
HG01257.hp2
NA20129.hp2
 intron_variant MODIFIER c.561+3555delG
c.561+3555delG
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51457535
chr1:51457536 C
C
 T
T
 6 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(3): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 6 HG01109.hp2
HG02559.hp2
HG03130.hp1
others(3): Show 
HG01109.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.561+3555G>A
c.561+3555G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51457536
chr1:51457560 C
C
 G
G
 3 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
 3 HG02572.hp1
HG03041.hp1
NA18522.hp2
HG02572.hp1
HG03041.hp1
NA18522.hp2
 intron_variant MODIFIER c.561+3531G>C
c.561+3531G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51457560
chr1:51457688 T
T
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.561+3403A>G
c.561+3403A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51457688
chr1:51457942 C
C
 A
A
 77 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(74): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 77 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(74): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.561+3149G>T
c.561+3149G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51457942
chr1:51458310 TA
TA
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.561+2780delT
c.561+2780delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51458310
chr1:51458487 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.561+2604C>T
c.561+2604C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51458487
chr1:51458519 C
C
 T
T
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.561+2572G>A
c.561+2572G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51458519
chr1:51458554 C
C
 T
T
 73 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(70): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 73 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(70): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.561+2537G>A
c.561+2537G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51458554
chr1:51458557 C
C
 T
T
 2 a0001c0003t0001g0090
a0001c0003t0003g0054
a0001c0003t0001g0090
a0001c0003t0003g0054
 2 HG01884.hp1
HG02145.hp2
HG01884.hp1
HG02145.hp2
 intron_variant MODIFIER c.561+2534G>A
c.561+2534G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51458557
chr1:51458666 G
G
 A
A
 1 a0001c0002t0003g0049
a0001c0002t0003g0049
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.561+2425C>T
c.561+2425C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51458666
chr1:51458750 T
T
 A
A
 1 a0001c0002t0003g0077
a0001c0002t0003g0077
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.561+2341A>T
c.561+2341A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51458750
chr1:51458792 T
T
 C
C
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.561+2299A>G
c.561+2299A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51458792
chr1:51458819 C
C
 T
T
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.561+2272G>A
c.561+2272G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51458819
chr1:51458847 G
G
 A
A
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.561+2244C>T
c.561+2244C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51458847
chr1:51458963 C
C
 A
A
 7 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
others(4): Show 
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 7 HG02109.hp2
HG02630.hp1
HG02717.hp2
others(4): Show 
HG02109.hp2
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG03209.hp2
HG03453.hp2
NA19240.hp2
 intron_variant MODIFIER c.561+2128G>T
c.561+2128G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51458963
chr1:51459154 G
G
 A
A
 9 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(6): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
 9 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(6): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.561+1937C>T
c.561+1937C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51459154
chr1:51459205 A
A
 G
G
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.561+1886T>C
c.561+1886T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51459205
chr1:51459347 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.561+1744C>T
c.561+1744C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51459347
chr1:51460149 G
G
 C
C
 1 a0002c0001t0012g0002
a0002c0001t0012g0002
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.561+942C>G
c.561+942C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51460149
chr1:51460455 G
G
 A
A
 4 a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
others(1): Show 
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 4 HG02109.hp2
HG02717.hp2
HG02818.hp1
others(1): Show 
HG02109.hp2
HG02717.hp2
HG02818.hp1
HG03209.hp2
 intron_variant MODIFIER c.561+636C>T
c.561+636C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51460455
chr1:51460815 G
G
 A
A
 1 a0001c0002t0001g0082
a0001c0002t0001g0082
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.561+276C>T
c.561+276C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51460815
chr1:51460959 GA
GA
 G
G
 10 a0002c0001t0004g0040
a0002c0001t0010g0041
a0002c0001t0010g0042
others(7): Show 
a0002c0001t0004g0040
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0007t0010g0043
a0004c0015t0011g0152
a0006c0010t0026g0129
 10 HG01109.hp2
HG02109.hp2
HG02559.hp2
others(7): Show 
HG01109.hp2
HG02109.hp2
HG02559.hp2
HG02717.hp2
HG02818.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.561+131delT
c.561+131delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51460959
chr1:51460993 A
A
 C
C
 1 a0002c0001t0022g0115
a0002c0001t0022g0115
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.561+98T>G
c.561+98T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51460993
chr1:51461034 T
T
 C
C
 9 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(6): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0007c0009t0015g0125
 9 HG02257.hp1
HG02572.hp1
HG03041.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.561+57A>G
c.561+57A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51461034
chr1:51461042 G
G
 C
C
 1 a0001c0002t0001g0045
a0001c0002t0001g0045
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.561+49C>G
c.561+49C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 8/24 chr1 51461042
chr1:51461237 G
G
 A
A
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.502-87C>T
c.502-87C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51461237
chr1:51461306 C
C
 G
G
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.502-156G>C
c.502-156G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51461306
chr1:51461392 C
C
 G
G
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.502-242G>C
c.502-242G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51461392
chr1:51461445 T
T
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.502-295A>G
c.502-295A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51461445
chr1:51461521 T
T
 TA
TA
 21 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0002g0030
others(18): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0003g0058
a0001c0002t0003g0069
a0001c0002t0013g0065
a0001c0002t0017g0032
a0001c0002t0020g0050
a0001c0003t0001g0053
a0001c0003t0001g0081
a0001c0003t0001g0089
a0001c0003t0001g0101
a0001c0003t0003g0054
a0002c0001t0009g0116
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0022g0115
 21 HG00642.hp2
HG01952.hp1
HG01952.hp2
others(18): Show 
HG00642.hp2
HG01952.hp1
HG01952.hp2
HG02055.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02572.hp2
HG02630.hp2
HG02717.hp1
HG02738.hp1
HG03139.hp2
HG03453.hp1
HG03491.hp1
HG03492.hp2
HG04199.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA19240.hp1
 intron_variant MODIFIER c.502-372dupT
c.502-372dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51461521
chr1:51461521 T
T
 TAA
TAA
 21 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(18): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0117
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
 21 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(18): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01167.hp2
HG01257.hp2
HG01346.hp1
HG01516.hp1
HG01517.hp1
HG01891.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.502-373_502-372dup
others(2): Show 
c.502-373_502-372dupTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51461521
chr1:51461521 TA
TA
 T
T
 5 a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0003t0001g0097
others(2): Show 
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0003t0001g0097
a0002c0001t0004g0022
a0002c0001t0004g0124
 5 HG01515.hp1
HG02109.hp1
HG03491.hp2
others(2): Show 
HG01515.hp1
HG02109.hp1
HG03491.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.502-372delT
c.502-372delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51461521
chr1:51461521 TAAAAAAA
others(4): Show 
TAAAAAAAAAAA
 T
T
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.502-382_502-372del
others(11): Show 
c.502-382_502-372delTTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51461521
chr1:51461549 T
T
 G
G
 2 a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0006g0034
a0002c0001t0006g0035
 2 HG03098.hp1
NA18906.hp2
HG03098.hp1
NA18906.hp2
 intron_variant MODIFIER c.502-399A>C
c.502-399A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51461549
chr1:51461635 T
T
 C
C
 1 a0002c0001t0012g0002
a0002c0001t0012g0002
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.502-485A>G
c.502-485A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51461635
chr1:51461990 A
A
 T
T
 1 a0002c0001t0004g0024
a0002c0001t0004g0024
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.502-840T>A
c.502-840T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51461990
chr1:51462134 A
A
 G
G
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.502-984T>C
c.502-984T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51462134
chr1:51462295 A
A
 G
G
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.502-1145T>C
c.502-1145T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51462295
chr1:51462320 G
G
 A
A
 4 a0001c0002t0001g0080
a0001c0002t0001g0088
a0002c0001t0006g0034
others(1): Show 
a0001c0002t0001g0080
a0001c0002t0001g0088
a0002c0001t0006g0034
a0002c0001t0006g0035
 4 HG00639.hp1
HG03098.hp1
NA18906.hp2
others(1): Show 
HG00639.hp1
HG03098.hp1
NA18906.hp2
NA20752.hp1
 intron_variant MODIFIER c.502-1170C>T
c.502-1170C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51462320
chr1:51462371 G
G
 GA
GA
 18 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(15): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
a0009c0012t0007g0136
 18 HG00642.hp1
HG01109.hp1
HG01175.hp1
others(15): Show 
HG00642.hp1
HG01109.hp1
HG01175.hp1
HG01257.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.502-1222dupT
c.502-1222dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51462371
chr1:51462371 GA
GA
 G
G
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.502-1222delT
c.502-1222delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51462371
chr1:51462386 A
A
 G
G
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.502-1236T>C
c.502-1236T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51462386
chr1:51462416 A
A
 G
G
 2 a0001c0002t0001g0079
a0001c0002t0020g0050
a0001c0002t0001g0079
a0001c0002t0020g0050
 2 HG01168.hp2
HG02738.hp1
HG01168.hp2
HG02738.hp1
 intron_variant MODIFIER c.501+1257T>C
c.501+1257T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51462416
chr1:51462520 A
A
 C
C
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.501+1153T>G
c.501+1153T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51462520
chr1:51462616 A
A
 C
C
 1 a0002c0001t0005g0139
a0002c0001t0005g0139
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.501+1057T>G
c.501+1057T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51462616
chr1:51462728 T
T
 C
C
 2 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0002g0030
a0001c0002t0002g0031
 2 HG02630.hp2
NA19240.hp1
HG02630.hp2
NA19240.hp1
 intron_variant MODIFIER c.501+945A>G
c.501+945A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51462728
chr1:51462831 T
T
 G
G
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.501+842A>C
c.501+842A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51462831
chr1:51462870 A
A
 AT
AT
 29 a0001c0002t0001g0045
a0001c0002t0001g0064
a0001c0002t0001g0128
others(26): Show 
a0001c0002t0001g0045
a0001c0002t0001g0064
a0001c0002t0001g0128
a0001c0002t0002g0030
a0001c0002t0003g0058
a0001c0002t0020g0050
a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0003t0003g0054
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0006g0028
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0024g0145
a0002c0004t0002g0005
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
 29 HG00738.hp1
HG01109.hp1
HG01167.hp2
others(26): Show 
HG00738.hp1
HG01109.hp1
HG01167.hp2
HG01175.hp1
HG01175.hp2
HG01346.hp2
HG01516.hp1
HG01517.hp1
HG02055.hp1
HG02145.hp2
HG02486.hp1
HG02572.hp1
HG02572.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03139.hp1
HG03195.hp2
HG03654.hp1
HG04115.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA19011.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.501+802dupA
c.501+802dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51462870
chr1:51462870 A
A
 ATTTTTTT
others(3): Show 
ATTTTTTTTTT
 2 a0002c0001t0007g0133
a0002c0001t0007g0135
a0002c0001t0007g0133
a0002c0001t0007g0135
 2 HG00642.hp1
HG01257.hp2
HG00642.hp1
HG01257.hp2
 intron_variant MODIFIER c.501+793_501+802dup
others(10): Show 
c.501+793_501+802dupAAAAAAAAAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51462870
chr1:51462870 A
A
 ATTTTTTT
others(4): Show 
ATTTTTTTTTTT
 2 a0002c0001t0007g0134
a0006c0010t0026g0129
a0002c0001t0007g0134
a0006c0010t0026g0129
 2 HG01109.hp2
NA20129.hp2
HG01109.hp2
NA20129.hp2
 intron_variant MODIFIER c.501+792_501+802dup
others(11): Show 
c.501+792_501+802dupAAAAAAAAAAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51462870
chr1:51462870 A
A
 ATTTTTTT
others(5): Show 
ATTTTTTTTTTTT
 2 a0004c0015t0011g0152
a0009c0012t0007g0136
a0004c0015t0011g0152
a0009c0012t0007g0136
 2 HG03130.hp1
NA19043.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.501+791_501+802dup
others(12): Show 
c.501+791_501+802dupAAAAAAAAAAAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51462870
chr1:51462870 A
A
 ATTTTTTT
others(6): Show 
ATTTTTTTTTTTTT
 3 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
 3 HG02559.hp2
HG03195.hp1
HG03471.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
 intron_variant MODIFIER c.501+790_501+802dup
others(13): Show 
c.501+790_501+802dupAAAAAAAAAAAAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51462870
chr1:51462870 AT
AT
 A
A
 25 a0001c0002t0001g0056
a0001c0006t0001g0104
a0002c0001t0004g0018
others(22): Show 
a0001c0002t0001g0056
a0001c0006t0001g0104
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0022g0115
a0002c0007t0010g0043
 25 HG00733.hp2
HG00735.hp1
HG00735.hp2
others(22): Show 
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG01192.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG02109.hp1
HG02109.hp2
HG02451.hp2
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG02976.hp2
HG03209.hp2
HG03453.hp2
HG03491.hp1
HG03492.hp2
HG04199.hp2
HG06807.hp1
NA19030.hp2
NA19240.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.501+802delA
c.501+802delA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51462870
chr1:51462896 C
C
 T
T
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.501+777G>A
c.501+777G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51462896
chr1:51462898 A
A
 G
G
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.501+775T>C
c.501+775T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51462898
chr1:51462919 C
C
 T
T
 9 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(6): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
 9 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(6): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.501+754G>A
c.501+754G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51462919
chr1:51462931 T
T
 C
C
 9 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(6): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0007c0009t0015g0125
 9 HG02257.hp1
HG02572.hp1
HG03041.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.501+742A>G
c.501+742A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51462931
chr1:51463134 C
C
 T
T
 3 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
 3 HG02572.hp1
HG03041.hp1
NA18522.hp2
HG02572.hp1
HG03041.hp1
NA18522.hp2
 intron_variant MODIFIER c.501+539G>A
c.501+539G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 7/24 chr1 51463134
chr1:51463832 TA
TA
 T
T
 77 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(74): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 77 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(74): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.376-35delT
c.376-35delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 6/24 chr1 51463832
chr1:51464020 G
G
 A
A
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.376-222C>T
c.376-222C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 6/24 chr1 51464020
chr1:51464106 T
T
 C
C
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.376-308A>G
c.376-308A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 6/24 chr1 51464106
chr1:51464150 G
G
 A
A
 14 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(11): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 14 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(11): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.376-352C>T
c.376-352C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 6/24 chr1 51464150
chr1:51464241 A
A
 AT
AT
 2 a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0014g0036
a0002c0001t0014g0037
 2 HG02451.hp2
HG02976.hp2
HG02451.hp2
HG02976.hp2
 intron_variant MODIFIER c.376-444_376-443ins
others(1): Show 
c.376-444_376-443insA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 6/24 chr1 51464241
chr1:51464242 A
A
 AT
AT
 110 a0001c0002t0001g0026
a0001c0002t0001g0045
a0001c0002t0001g0046
others(107): Show 
a0001c0002t0001g0026
a0001c0002t0001g0045
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0051
a0001c0002t0001g0052
a0001c0002t0001g0056
a0001c0002t0001g0064
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0078
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0111
a0001c0002t0001g0113
a0001c0002t0001g0114
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0003g0049
a0001c0002t0003g0069
a0001c0002t0003g0070
a0001c0002t0003g0076
a0001c0002t0003g0077
a0001c0002t0013g0062
a0001c0002t0013g0065
a0001c0002t0017g0032
a0001c0002t0018g0105
a0001c0002t0019g0055
a0001c0002t0020g0050
a0001c0003t0001g0053
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0068
a0001c0003t0001g0081
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
a0001c0003t0001g0102
a0001c0003t0001g0103
a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0003t0001g0109
a0001c0003t0001g0110
a0001c0003t0003g0054
a0001c0006t0001g0104
a0001c0006t0001g0112
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0007t0010g0043
a0003c0005t0001g0017
a0003c0005t0001g0057
a0005c0008t0002g0033
a0007c0009t0015g0125
a0008c0011t0025g0140
a0010c0013t0001g0063
 110 HG00438.hp1
HG00438.hp2
HG00558.hp1
others(107): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02486.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03834.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18957.hp1
NA18957.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.376-445dupA
c.376-445dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 6/24 chr1 51464242
chr1:51464242 A
A
 T
T
 7 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(4): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0022g0115
 7 HG00735.hp2
HG02451.hp2
HG02976.hp2
others(4): Show 
HG00735.hp2
HG02451.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.376-444T>A
c.376-444T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 6/24 chr1 51464242
chr1:51464313 C
C
 T
T
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.376-515G>A
c.376-515G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 6/24 chr1 51464313
chr1:51464458 T
T
 C
C
 6 a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
others(3): Show 
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0014t0002g0010
 6 HG01167.hp2
HG02486.hp2
HG02922.hp1
others(3): Show 
HG01167.hp2
HG02486.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
NA18522.hp1
 intron_variant MODIFIER c.376-660A>G
c.376-660A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 6/24 chr1 51464458
chr1:51464465 C
C
 T
T
 9 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(6): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0007c0009t0015g0125
 9 HG02257.hp1
HG02572.hp1
HG03041.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.376-667G>A
c.376-667G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 6/24 chr1 51464465
chr1:51464478 G
G
 T
T
 3 a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
 3 HG02257.hp1
HG03139.hp2
NA19043.hp2
HG02257.hp1
HG03139.hp2
NA19043.hp2
 intron_variant MODIFIER c.376-680C>A
c.376-680C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 6/24 chr1 51464478
chr1:51464560 A
A
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.375+701T>G
c.375+701T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 6/24 chr1 51464560
chr1:51464931 C
C
 A
A
 2 a0002c0001t0012g0001
a0002c0001t0012g0003
a0002c0001t0012g0001
a0002c0001t0012g0003
 2 HG02257.hp1
HG03139.hp2
HG02257.hp1
HG03139.hp2
 intron_variant MODIFIER c.375+330G>T
c.375+330G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 6/24 chr1 51464931
chr1:51464961 T
T
 G
G
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.375+300A>C
c.375+300A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 6/24 chr1 51464961
chr1:51464977 C
C
 T
T
 77 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(74): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 77 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(74): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.375+284G>A
c.375+284G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 6/24 chr1 51464977
chr1:51465362 T
T
 A
A
 1 a0001c0002t0001g0073
a0001c0002t0001g0073
 1 HG03492.hp1
HG03492.hp1
 intron_variant MODIFIER c.310-36A>T
c.310-36A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 5/24 chr1 51465362
chr1:51465417 C
C
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.310-91G>A
c.310-91G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 5/24 chr1 51465417
chr1:51465452 A
A
 G
G
 1 a0001c0002t0001g0079
a0001c0002t0001g0079
 1 HG01168.hp2
HG01168.hp2
 intron_variant MODIFIER c.310-126T>C
c.310-126T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 5/24 chr1 51465452
chr1:51465754 T
T
 C
C
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.310-428A>G
c.310-428A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 5/24 chr1 51465754
chr1:51465902 G
G
 A
A
 9 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(6): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0007c0009t0015g0125
 9 HG02257.hp1
HG02572.hp1
HG03041.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.310-576C>T
c.310-576C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 5/24 chr1 51465902
chr1:51466490 G
G
 A
A
 4 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(1): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0005c0008t0002g0033
 4 HG02630.hp2
HG02717.hp1
HG02976.hp1
others(1): Show 
HG02630.hp2
HG02717.hp1
HG02976.hp1
NA19240.hp1
 intron_variant MODIFIER c.310-1164C>T
c.310-1164C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 5/24 chr1 51466490
chr1:51466623 C
C
 CA
CA
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.310-1298dupT
c.310-1298dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 5/24 chr1 51466623
chr1:51466633 T
T
 A
A
 4 a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
others(1): Show 
a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
 4 HG00639.hp2
HG02647.hp1
HG02818.hp2
others(1): Show 
HG00639.hp2
HG02647.hp1
HG02818.hp2
HG03471.hp1
 intron_variant MODIFIER c.310-1307A>T
c.310-1307A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 5/24 chr1 51466633
chr1:51466999 A
A
 G
G
 3 a0001c0002t0001g0083
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0083
a0001c0002t0001g0126
a0001c0002t0001g0127
 3 HG00438.hp1
NA18747.hp1
NA19011.hp1
HG00438.hp1
NA18747.hp1
NA19011.hp1
 intron_variant MODIFIER c.309+1474T>C
c.309+1474T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 5/24 chr1 51466999
chr1:51467575 C
C
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.309+898G>A
c.309+898G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 5/24 chr1 51467575
chr1:51467588 C
C
 T
T
 1 a0001c0002t0003g0061
a0001c0002t0003g0061
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.309+885G>A
c.309+885G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 5/24 chr1 51467588
chr1:51467653 A
A
 T
T
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.309+820T>A
c.309+820T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 5/24 chr1 51467653
chr1:51467695 C
C
 T
T
 1 a0001c0002t0001g0085
a0001c0002t0001g0085
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.309+778G>A
c.309+778G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 5/24 chr1 51467695
chr1:51467779 A
A
 G
G
 2 a0001c0002t0001g0091
a0001c0002t0001g0111
a0001c0002t0001g0091
a0001c0002t0001g0111
 2 HG04115.hp2
HG04228.hp2
HG04115.hp2
HG04228.hp2
 intron_variant MODIFIER c.309+694T>C
c.309+694T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 5/24 chr1 51467779
chr1:51467964 T
T
 C
C
 9 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(6): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0007c0009t0015g0125
 9 HG02257.hp1
HG02572.hp1
HG03041.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.309+509A>G
c.309+509A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 5/24 chr1 51467964
chr1:51467969 A
A
 T
T
 10 a0001c0002t0001g0079
a0002c0001t0004g0038
a0002c0001t0004g0039
others(7): Show 
a0001c0002t0001g0079
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 10 HG01168.hp2
HG01257.hp2
HG02109.hp2
others(7): Show 
HG01168.hp2
HG01257.hp2
HG02109.hp2
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG03209.hp2
HG03453.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.309+504T>A
c.309+504T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 5/24 chr1 51467969
chr1:51467971 T
T
 A
A
 2 a0002c0001t0009g0116
a0002c0001t0022g0115
a0002c0001t0009g0116
a0002c0001t0022g0115
 2 HG06807.hp1
NA19030.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.309+502A>T
c.309+502A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 5/24 chr1 51467971
chr1:51468017 G
G
 A
A
 4 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(1): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0005c0008t0002g0033
 4 HG02630.hp2
HG02717.hp1
HG02976.hp1
others(1): Show 
HG02630.hp2
HG02717.hp1
HG02976.hp1
NA19240.hp1
 intron_variant MODIFIER c.309+456C>T
c.309+456C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 5/24 chr1 51468017
chr1:51468018 G
G
 A
A
 1 a0001c0002t0001g0087
a0001c0002t0001g0087
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.309+455C>T
c.309+455C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 5/24 chr1 51468018
chr1:51468027 C
C
 T
T
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.309+446G>A
c.309+446G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 5/24 chr1 51468027
chr1:51468067 T
T
 C
C
 1 a0001c0002t0017g0032
a0001c0002t0017g0032
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.309+406A>G
c.309+406A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 5/24 chr1 51468067
chr1:51468102 G
G
 A
A
 2 a0001c0002t0001g0080
a0001c0002t0001g0088
a0001c0002t0001g0080
a0001c0002t0001g0088
 2 HG00639.hp1
NA20752.hp1
HG00639.hp1
NA20752.hp1
 intron_variant MODIFIER c.309+371C>T
c.309+371C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 5/24 chr1 51468102
chr1:51468246 A
A
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.309+227T>G
c.309+227T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 5/24 chr1 51468246
chr1:51468768 CTAA
CTAA
 C
C
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.214-203_214-201del
others(3): Show 
c.214-203_214-201delTTA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51468768
chr1:51468933 A
A
 G
G
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.214-365T>C
c.214-365T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51468933
chr1:51468946 G
G
 A
A
 1 a0002c0001t0004g0040
a0002c0001t0004g0040
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.214-378C>T
c.214-378C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51468946
chr1:51469065 G
G
 C
C
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.214-497C>G
c.214-497C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51469065
chr1:51469086 G
G
 C
C
 77 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(74): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 77 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(74): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.214-518C>G
c.214-518C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51469086
chr1:51469094 C
C
 T
T
 5 a0001c0002t0001g0114
a0002c0001t0008g0120
a0002c0001t0008g0121
others(2): Show 
a0001c0002t0001g0114
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 5 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(2): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
HG04204.hp1
NA20805.hp2
 intron_variant MODIFIER c.214-526G>A
c.214-526G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51469094
chr1:51469116 C
C
 G
G
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.214-548G>C
c.214-548G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51469116
chr1:51469121 CTG
CTG
 C
C
 8 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(5): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0124
 8 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(5): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.214-555_214-554del
others(2): Show 
c.214-555_214-554delCA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51469121
chr1:51469167 ATGATAT
ATGATAT
 A
A
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.214-605_214-600del
others(6): Show 
c.214-605_214-600delATATCA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51469167
chr1:51469326 G
G
 A
A
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.214-758C>T
c.214-758C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51469326
chr1:51469327 C
C
 T
T
 2 a0002c0001t0009g0116
a0002c0001t0022g0115
a0002c0001t0009g0116
a0002c0001t0022g0115
 2 HG06807.hp1
NA19030.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.214-759G>A
c.214-759G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51469327
chr1:51469328 A
A
 G
G
 77 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(74): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 77 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(74): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.214-760T>C
c.214-760T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51469328
chr1:51469482 T
T
 C
C
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.214-914A>G
c.214-914A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51469482
chr1:51469588 G
G
 A
A
 1 a0001c0002t0001g0052
a0001c0002t0001g0052
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.214-1020C>T
c.214-1020C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51469588
chr1:51469608 A
A
 G
G
 1 a0001c0002t0001g0083
a0001c0002t0001g0083
 1 NA19011.hp1
NA19011.hp1
 intron_variant MODIFIER c.214-1040T>C
c.214-1040T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51469608
chr1:51469672 A
A
 C
C
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.214-1104T>G
c.214-1104T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51469672
chr1:51469869 T
T
 TA
TA
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.214-1302dupT
c.214-1302dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51469869
chr1:51470006 C
C
 T
T
 1 a0001c0002t0018g0105
a0001c0002t0018g0105
 1 NA18957.hp2
NA18957.hp2
 intron_variant MODIFIER c.214-1438G>A
c.214-1438G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51470006
chr1:51470016 C
C
 T
T
 1 a0001c0002t0003g0049
a0001c0002t0003g0049
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.214-1448G>A
c.214-1448G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51470016
chr1:51470055 T
T
 C
C
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.214-1487A>G
c.214-1487A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51470055
chr1:51470363 G
G
 C
C
 1 a0001c0002t0003g0061
a0001c0002t0003g0061
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.213+1327C>G
c.213+1327C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51470363
chr1:51470462 T
T
 C
C
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.213+1228A>G
c.213+1228A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51470462
chr1:51470562 G
G
 A
A
 2 a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0007
a0002c0004t0002g0008
 2 HG02723.hp2
HG06807.hp2
HG02723.hp2
HG06807.hp2
 intron_variant MODIFIER c.213+1128C>T
c.213+1128C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51470562
chr1:51470646 C
C
 CA
CA
 9 a0001c0002t0003g0058
a0002c0001t0007g0133
a0002c0001t0007g0134
others(6): Show 
a0001c0002t0003g0058
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0131
a0002c0001t0011g0132
a0005c0008t0002g0033
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02055.hp1
HG02559.hp2
HG02976.hp1
HG03130.hp1
HG03195.hp1
NA20129.hp2
 intron_variant MODIFIER c.213+1043dupT
c.213+1043dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51470646
chr1:51470646 CA
CA
 C
C
 87 a0001c0002t0001g0045
a0001c0002t0001g0046
a0001c0002t0001g0047
others(84): Show 
a0001c0002t0001g0045
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0051
a0001c0002t0001g0056
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0111
a0001c0002t0001g0113
a0001c0002t0001g0114
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0003g0077
a0001c0002t0013g0065
a0001c0002t0018g0105
a0001c0002t0020g0050
a0001c0003t0001g0053
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0068
a0001c0003t0001g0081
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
a0001c0003t0001g0102
a0001c0003t0001g0103
a0001c0003t0001g0108
a0001c0003t0001g0109
a0001c0003t0001g0110
a0001c0003t0003g0054
a0001c0006t0001g0104
a0001c0006t0001g0112
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
a0002c0001t0005g0146
a0002c0001t0005g0150
a0002c0001t0006g0034
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0022g0115
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0003c0005t0001g0017
a0003c0005t0001g0057
a0010c0013t0001g0063
 87 HG00438.hp1
HG00438.hp2
HG00558.hp1
others(84): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02572.hp2
HG02615.hp2
HG02647.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03834.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18957.hp1
NA18957.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.213+1043delT
c.213+1043delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51470646
chr1:51470646 CAA
CAA
 C
C
 25 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0005g0138
others(22): Show 
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0006g0035
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0007t0010g0043
a0007c0009t0015g0125
a0008c0011t0025g0140
 25 HG00735.hp2
HG01109.hp1
HG01175.hp1
others(22): Show 
HG00735.hp2
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG02109.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
NA18906.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.213+1042_213+1043d
others(4): Show 
c.213+1042_213+1043delTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51470646
chr1:51470868 T
T
 C
C
 2 a0001c0002t0001g0091
a0001c0002t0001g0111
a0001c0002t0001g0091
a0001c0002t0001g0111
 2 HG04115.hp2
HG04228.hp2
HG04115.hp2
HG04228.hp2
 intron_variant MODIFIER c.213+822A>G
c.213+822A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51470868
chr1:51470960 C
C
 G
G
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.213+730G>C
c.213+730G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51470960
chr1:51471075 C
C
 T
T
 1 a0001c0003t0001g0103
a0001c0003t0001g0103
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.213+615G>A
c.213+615G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51471075
chr1:51471290 G
G
 A
A
 1 a0002c0001t0005g0139
a0002c0001t0005g0139
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.213+400C>T
c.213+400C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51471290
chr1:51471484 G
G
 A
A
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.213+206C>T
c.213+206C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 4/24 chr1 51471484
chr1:51472008 A
A
 AT
AT
 11 a0001c0003t0001g0108
a0002c0001t0008g0120
a0002c0001t0008g0121
others(8): Show 
a0001c0003t0001g0108
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0012g0002
a0002c0001t0022g0115
 11 HG00735.hp2
HG00738.hp1
HG01346.hp2
others(8): Show 
HG00735.hp2
HG00738.hp1
HG01346.hp2
HG01516.hp1
HG01517.hp1
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
NA19043.hp2
NA20805.hp2
 intron_variant MODIFIER c.166-272dupA
c.166-272dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 3/24 chr1 51472008
chr1:51472008 AT
AT
 A
A
 9 a0002c0001t0004g0039
a0002c0001t0006g0028
a0002c0001t0006g0029
others(6): Show 
a0002c0001t0004g0039
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0016g0027
a0004c0015t0011g0152
a0006c0010t0026g0129
 9 HG01109.hp2
HG02559.hp2
HG02572.hp1
others(6): Show 
HG01109.hp2
HG02559.hp2
HG02572.hp1
HG02630.hp1
HG03041.hp1
HG03195.hp1
HG03471.hp2
NA18522.hp2
NA19043.hp1
 intron_variant MODIFIER c.166-272delA
c.166-272delA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 3/24 chr1 51472008
chr1:51472037 A
A
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.166-300T>A
c.166-300T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 3/24 chr1 51472037
chr1:51472118 A
A
 G
G
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.166-381T>C
c.166-381T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 3/24 chr1 51472118
chr1:51472270 C
C
 T
T
 3 a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0007t0010g0043
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0007t0010g0043
 3 HG02109.hp2
HG02717.hp2
HG03209.hp2
HG02109.hp2
HG02717.hp2
HG03209.hp2
 intron_variant MODIFIER c.166-533G>A
c.166-533G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 3/24 chr1 51472270
chr1:51472279 A
A
 G
G
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.166-542T>C
c.166-542T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 3/24 chr1 51472279
chr1:51472427 A
A
 G
G
 73 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(70): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 73 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(70): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.165+432T>C
c.165+432T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 3/24 chr1 51472427
chr1:51472429 A
A
 G
G
 3 a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
 3 HG02257.hp1
HG03139.hp2
NA19043.hp2
HG02257.hp1
HG03139.hp2
NA19043.hp2
 intron_variant MODIFIER c.165+430T>C
c.165+430T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 3/24 chr1 51472429
chr1:51472502 T
T
 C
C
 2 a0002c0001t0009g0116
a0002c0001t0022g0115
a0002c0001t0009g0116
a0002c0001t0022g0115
 2 HG06807.hp1
NA19030.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.165+357A>G
c.165+357A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 3/24 chr1 51472502
chr1:51472510 A
A
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.165+349T>A
c.165+349T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 3/24 chr1 51472510
chr1:51472522 G
G
 A
A
 1 a0002c0001t0010g0044
a0002c0001t0010g0044
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.165+337C>T
c.165+337C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 3/24 chr1 51472522
chr1:51472563 G
G
 C
C
 3 a0001c0002t0003g0069
a0001c0002t0003g0070
a0001c0002t0003g0076
a0001c0002t0003g0069
a0001c0002t0003g0070
a0001c0002t0003g0076
 3 HG02647.hp2
HG03130.hp2
NA18906.hp1
HG02647.hp2
HG03130.hp2
NA18906.hp1
 intron_variant MODIFIER c.165+296C>G
c.165+296C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 3/24 chr1 51472563
chr1:51472967 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.76-19C>T
c.76-19C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51472967
chr1:51473020 C
C
 T
T
 2 a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0041
a0002c0001t0010g0042
 2 HG02717.hp2
HG03209.hp2
HG02717.hp2
HG03209.hp2
 intron_variant MODIFIER c.76-72G>A
c.76-72G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51473020
chr1:51473176 C
C
 T
T
 14 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(11): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 14 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(11): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.76-228G>A
c.76-228G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51473176
chr1:51473516 G
G
 C
C
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.76-568C>G
c.76-568C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51473516
chr1:51473525 C
C
 T
T
 73 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(70): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 73 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(70): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.76-577G>A
c.76-577G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51473525
chr1:51473587 C
C
 A
A
 9 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(6): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0007c0009t0015g0125
 9 HG02257.hp1
HG02572.hp1
HG03041.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.76-639G>T
c.76-639G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51473587
chr1:51473596 AAAC
AAAC
 A
A
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.76-651_76-649delGT
others(1): Show 
c.76-651_76-649delGTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51473596
chr1:51473599 C
C
 CA
CA
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.76-652dupT
c.76-652dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51473599
chr1:51473653 A
A
 T
T
 2 a0001c0002t0003g0075
a0001c0002t0003g0106
a0001c0002t0003g0075
a0001c0002t0003g0106
 2 HG02559.hp1
HG02723.hp1
HG02559.hp1
HG02723.hp1
 intron_variant MODIFIER c.76-705T>A
c.76-705T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51473653
chr1:51473928 T
T
 C
C
 1 a0002c0004t0002g0006
a0002c0004t0002g0006
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.76-980A>G
c.76-980A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51473928
chr1:51474127 T
T
 C
C
 8 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(5): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0124
 8 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(5): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.76-1179A>G
c.76-1179A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51474127
chr1:51474579 T
T
 C
C
 3 a0001c0003t0001g0101
a0001c0003t0001g0103
a0001c0003t0001g0110
a0001c0003t0001g0101
a0001c0003t0001g0103
a0001c0003t0001g0110
 3 HG01167.hp1
HG01952.hp2
HG03834.hp2
HG01167.hp1
HG01952.hp2
HG03834.hp2
 intron_variant MODIFIER c.76-1631A>G
c.76-1631A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51474579
chr1:51474680 T
T
 A
A
 29 a0001c0003t0001g0053
a0001c0003t0001g0066
a0001c0003t0001g0067
others(26): Show 
a0001c0003t0001g0053
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0068
a0001c0003t0001g0081
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
a0001c0003t0001g0102
a0001c0003t0001g0103
a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0003t0001g0109
a0001c0003t0001g0110
a0001c0003t0003g0054
a0001c0006t0001g0104
a0001c0006t0001g0112
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 29 HG00642.hp1
HG00642.hp2
HG00733.hp1
others(26): Show 
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01167.hp1
HG01168.hp1
HG01192.hp2
HG01257.hp2
HG01261.hp1
HG01346.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01952.hp2
HG02145.hp2
HG02258.hp1
HG02615.hp2
HG02735.hp1
HG03130.hp1
HG03453.hp1
HG03540.hp2
HG03834.hp1
HG03834.hp2
HG04115.hp1
HG04204.hp2
NA20129.hp2
 intron_variant MODIFIER c.76-1732A>T
c.76-1732A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51474680
chr1:51474716 T
T
 G
G
 1 a0001c0002t0001g0113
a0001c0002t0001g0113
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.76-1768A>C
c.76-1768A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51474716
chr1:51474744 C
C
 T
T
 2 a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0014g0036
a0002c0001t0014g0037
 2 HG02451.hp2
HG02976.hp2
HG02451.hp2
HG02976.hp2
 intron_variant MODIFIER c.76-1796G>A
c.76-1796G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51474744
chr1:51474846 A
A
 G
G
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.76-1898T>C
c.76-1898T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51474846
chr1:51474891 T
T
 C
C
 77 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(74): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 77 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(74): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.76-1943A>G
c.76-1943A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51474891
chr1:51474935 G
G
 C
C
 4 a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
others(1): Show 
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0007c0009t0015g0125
 4 HG02257.hp1
HG03139.hp2
HG03486.hp1
others(1): Show 
HG02257.hp1
HG03139.hp2
HG03486.hp1
NA19043.hp2
 intron_variant MODIFIER c.76-1987C>G
c.76-1987C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51474935
chr1:51475207 C
C
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.76-2259G>A
c.76-2259G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51475207
chr1:51475212 G
G
 A
A
 2 a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0014g0036
a0002c0001t0014g0037
 2 HG02451.hp2
HG02976.hp2
HG02451.hp2
HG02976.hp2
 intron_variant MODIFIER c.76-2264C>T
c.76-2264C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51475212
chr1:51475332 CTCTAACA
CTCTAACA
 C
C
 3 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
 3 HG00642.hp1
HG01257.hp2
NA20129.hp2
HG00642.hp1
HG01257.hp2
NA20129.hp2
 intron_variant MODIFIER c.76-2391_76-2385del
others(7): Show 
c.76-2391_76-2385delTGTTAGA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51475332
chr1:51475364 C
C
 T
T
 1 a0001c0002t0003g0077
a0001c0002t0003g0077
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.76-2416G>A
c.76-2416G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51475364
chr1:51475470 A
A
 G
G
 1 a0001c0002t0001g0045
a0001c0002t0001g0045
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.76-2522T>C
c.76-2522T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51475470
chr1:51475665 T
T
 C
C
 77 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(74): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 77 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(74): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.76-2717A>G
c.76-2717A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51475665
chr1:51475832 TAATCCAT
others(4): Show 
TAATCCATCTTG
 T
T
 1 a0001c0002t0001g0114
a0001c0002t0001g0114
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.76-2895_76-2885del
others(11): Show 
c.76-2895_76-2885delCAAGATGGATT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51475832
chr1:51475839 T
T
 C
C
 18 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(15): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 18 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(15): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01109.hp2
HG01192.hp1
HG01257.hp2
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02559.hp2
HG02922.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.76-2891A>G
c.76-2891A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51475839
chr1:51476517 T
T
 C
C
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.76-3569A>G
c.76-3569A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51476517
chr1:51476566 C
C
 T
T
 1 a0002c0001t0005g0146
a0002c0001t0005g0146
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.76-3618G>A
c.76-3618G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51476566
chr1:51476661 T
T
 C
C
 1 a0002c0001t0005g0146
a0002c0001t0005g0146
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.76-3713A>G
c.76-3713A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51476661
chr1:51476775 G
G
 C
C
 1 a0001c0003t0001g0103
a0001c0003t0001g0103
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.76-3827C>G
c.76-3827C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51476775
chr1:51476802 A
A
 G
G
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.76-3854T>C
c.76-3854T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51476802
chr1:51476928 G
G
 T
T
 2 a0002c0001t0009g0116
a0002c0001t0022g0115
a0002c0001t0009g0116
a0002c0001t0022g0115
 2 HG06807.hp1
NA19030.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.76-3980C>A
c.76-3980C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51476928
chr1:51477010 A
A
 C
C
 1 a0001c0002t0001g0113
a0001c0002t0001g0113
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.76-4062T>G
c.76-4062T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51477010
chr1:51477019 A
A
 C
C
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.76-4071T>G
c.76-4071T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51477019
chr1:51477157 A
A
 T
T
 4 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(1): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0005c0008t0002g0033
 4 HG02630.hp2
HG02717.hp1
HG02976.hp1
others(1): Show 
HG02630.hp2
HG02717.hp1
HG02976.hp1
NA19240.hp1
 intron_variant MODIFIER c.75+4116T>A
c.75+4116T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51477157
chr1:51477238 C
C
 T
T
 9 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(6): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
 9 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(6): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.75+4035G>A
c.75+4035G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51477238
chr1:51477239 A
A
 G
G
 9 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(6): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
 9 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(6): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.75+4034T>C
c.75+4034T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51477239
chr1:51477381 T
T
 C
C
 1 a0001c0002t0001g0087
a0001c0002t0001g0087
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.75+3892A>G
c.75+3892A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51477381
chr1:51477638 G
G
 A
A
 1 a0001c0002t0019g0055
a0001c0002t0019g0055
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.75+3635C>T
c.75+3635C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51477638
chr1:51477658 T
T
 C
C
 1 a0001c0003t0001g0093
a0001c0003t0001g0093
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.75+3615A>G
c.75+3615A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51477658
chr1:51477661 T
T
 G
G
 1 a0001c0002t0019g0055
a0001c0002t0019g0055
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.75+3612A>C
c.75+3612A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51477661
chr1:51477964 T
T
 C
C
 1 a0001c0002t0001g0087
a0001c0002t0001g0087
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.75+3309A>G
c.75+3309A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51477964
chr1:51478017 G
G
 T
T
 2 a0001c0003t0001g0100
a0001c0003t0001g0109
a0001c0003t0001g0100
a0001c0003t0001g0109
 2 HG01074.hp1
HG01168.hp1
HG01074.hp1
HG01168.hp1
 intron_variant MODIFIER c.75+3256C>A
c.75+3256C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51478017
chr1:51478075 C
C
 T
T
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.75+3198G>A
c.75+3198G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51478075
chr1:51478199 C
C
 T
T
 4 a0002c0001t0005g0139
a0002c0001t0005g0142
a0002c0001t0005g0148
others(1): Show 
a0002c0001t0005g0139
a0002c0001t0005g0142
a0002c0001t0005g0148
a0008c0011t0025g0140
 4 HG02257.hp2
HG02486.hp1
HG03209.hp1
others(1): Show 
HG02257.hp2
HG02486.hp1
HG03209.hp1
NA20300.hp1
 intron_variant MODIFIER c.75+3074G>A
c.75+3074G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51478199
chr1:51478204 T
T
 C
C
 1 a0001c0002t0001g0126
a0001c0002t0001g0126
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.75+3069A>G
c.75+3069A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51478204
chr1:51478232 C
C
 G
G
 1 a0006c0010t0026g0129
a0006c0010t0026g0129
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.75+3041G>C
c.75+3041G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51478232
chr1:51478262 C
C
 G
G
 1 a0002c0001t0007g0133
a0002c0001t0007g0133
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.75+3011G>C
c.75+3011G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51478262
chr1:51478398 C
C
 A
A
 1 a0001c0002t0001g0082
a0001c0002t0001g0082
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.75+2875G>T
c.75+2875G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51478398
chr1:51478537 T
T
 C
C
 11 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0009
others(8): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 11 HG01167.hp2
HG01346.hp1
HG02486.hp2
others(8): Show 
HG01167.hp2
HG01346.hp1
HG02486.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
NA18522.hp1
 intron_variant MODIFIER c.75+2736A>G
c.75+2736A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51478537
chr1:51478595 G
G
 A
A
 2 a0001c0003t0001g0090
a0001c0003t0003g0054
a0001c0003t0001g0090
a0001c0003t0003g0054
 2 HG01884.hp1
HG02145.hp2
HG01884.hp1
HG02145.hp2
 intron_variant MODIFIER c.75+2678C>T
c.75+2678C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51478595
chr1:51478824 A
A
 C
C
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.75+2449T>G
c.75+2449T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51478824
chr1:51478860 G
G
 A
A
 1 a0002c0001t0023g0151
a0002c0001t0023g0151
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.75+2413C>T
c.75+2413C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51478860
chr1:51478970 A
A
 G
G
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.75+2303T>C
c.75+2303T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51478970
chr1:51479138 T
T
 C
C
 1 a0001c0002t0001g0128
a0001c0002t0001g0128
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.75+2135A>G
c.75+2135A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51479138
chr1:51479151 C
C
 T
T
 2 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0018
a0002c0001t0004g0019
 2 HG00735.hp1
HG01192.hp1
HG00735.hp1
HG01192.hp1
 intron_variant MODIFIER c.75+2122G>A
c.75+2122G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51479151
chr1:51479172 C
C
 T
T
 1 a0002c0001t0012g0001
a0002c0001t0012g0001
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.75+2101G>A
c.75+2101G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51479172
chr1:51479190 G
G
 A
A
 4 a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
others(1): Show 
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 4 HG02109.hp2
HG02717.hp2
HG02818.hp1
others(1): Show 
HG02109.hp2
HG02717.hp2
HG02818.hp1
HG03209.hp2
 intron_variant MODIFIER c.75+2083C>T
c.75+2083C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51479190
chr1:51479224 T
T
 C
C
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.75+2049A>G
c.75+2049A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51479224
chr1:51479264 T
T
 A
A
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.75+2009A>T
c.75+2009A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51479264
chr1:51479460 C
C
 T
T
 1 a0002c0001t0010g0044
a0002c0001t0010g0044
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.75+1813G>A
c.75+1813G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51479460
chr1:51479576 T
T
 TC
TC
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.75+1696dupG
c.75+1696dupG
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51479576
chr1:51479672 A
A
 G
G
 2 a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0006g0034
a0002c0001t0006g0035
 2 HG03098.hp1
NA18906.hp2
HG03098.hp1
NA18906.hp2
 intron_variant MODIFIER c.75+1601T>C
c.75+1601T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51479672
chr1:51479693 G
G
 A
A
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.75+1580C>T
c.75+1580C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51479693
chr1:51480186 C
C
 T
T
 1 a0001c0002t0017g0032
a0001c0002t0017g0032
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.75+1087G>A
c.75+1087G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51480186
chr1:51480323 C
C
 T
T
 1 a0002c0001t0022g0115
a0002c0001t0022g0115
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.75+950G>A
c.75+950G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51480323
chr1:51480604 C
C
 T
T
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.75+669G>A
c.75+669G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51480604
chr1:51480794 G
G
 A
A
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.75+479C>T
c.75+479C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51480794
chr1:51480877 T
T
 C
C
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.75+396A>G
c.75+396A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51480877
chr1:51480988 T
T
 A
A
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.75+285A>T
c.75+285A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51480988
chr1:51481021 A
A
 G
G
 4 a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
others(1): Show 
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 4 HG02109.hp2
HG02717.hp2
HG02818.hp1
others(1): Show 
HG02109.hp2
HG02717.hp2
HG02818.hp1
HG03209.hp2
 intron_variant MODIFIER c.75+252T>C
c.75+252T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51481021
chr1:51481113 G
G
 A
A
 14 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(11): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 14 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(11): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.75+160C>T
c.75+160C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51481113
chr1:51481184 G
G
 A
A
 3 a0001c0002t0002g0030
a0001c0002t0002g0031
a0002c0001t0004g0040
a0001c0002t0002g0030
a0001c0002t0002g0031
a0002c0001t0004g0040
 3 HG02630.hp2
HG03453.hp2
NA19240.hp1
HG02630.hp2
HG03453.hp2
NA19240.hp1
 intron_variant MODIFIER c.75+89C>T
c.75+89C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 2/24 chr1 51481184
chr1:51481479 T
T
 C
C
 7 a0002c0001t0005g0139
a0002c0001t0005g0142
a0002c0001t0005g0146
others(4): Show 
a0002c0001t0005g0139
a0002c0001t0005g0142
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 7 HG01175.hp1
HG02055.hp2
HG02257.hp2
others(4): Show 
HG01175.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG03209.hp1
NA20300.hp1
 intron_variant MODIFIER c.34-165A>G
c.34-165A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51481479
chr1:51481844 C
C
 A
A
 3 a0002c0001t0005g0146
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0001t0005g0146
a0002c0001t0023g0151
a0002c0001t0024g0145
 3 HG01175.hp1
HG02055.hp2
HG02258.hp2
HG01175.hp1
HG02055.hp2
HG02258.hp2
 intron_variant MODIFIER c.34-530G>T
c.34-530G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51481844
chr1:51481863 T
T
 C
C
 1 a0002c0004t0002g0013
a0002c0004t0002g0013
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.34-549A>G
c.34-549A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51481863
chr1:51481951 C
C
 A
A
 21 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(18): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0022g0115
a0002c0007t0010g0043
 21 HG00733.hp2
HG00735.hp1
HG00735.hp2
others(18): Show 
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02109.hp2
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG03209.hp2
HG03453.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
NA19240.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.34-637G>T
c.34-637G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51481951
chr1:51482254 G
G
 C
C
 1 a0002c0001t0004g0025
a0002c0001t0004g0025
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.34-940C>G
c.34-940C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51482254
chr1:51482435 A
A
 C
C
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-1121T>G
c.34-1121T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51482435
chr1:51482622 T
T
 C
C
 73 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(70): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 73 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(70): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.34-1308A>G
c.34-1308A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51482622
chr1:51482669 T
T
 C
C
 1 a0002c0001t0010g0044
a0002c0001t0010g0044
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.34-1355A>G
c.34-1355A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51482669
chr1:51482685 C
C
 T
T
 4 a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
others(1): Show 
a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
 4 HG00639.hp2
HG02647.hp1
HG02818.hp2
others(1): Show 
HG00639.hp2
HG02647.hp1
HG02818.hp2
HG03471.hp1
 intron_variant MODIFIER c.34-1371G>A
c.34-1371G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51482685
chr1:51483064 C
C
 T
T
 4 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(1): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0005c0008t0002g0033
 4 HG02630.hp2
HG02717.hp1
HG02976.hp1
others(1): Show 
HG02630.hp2
HG02717.hp1
HG02976.hp1
NA19240.hp1
 intron_variant MODIFIER c.34-1750G>A
c.34-1750G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51483064
chr1:51483151 C
C
 T
T
 2 a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0006g0034
a0002c0001t0006g0035
 2 HG03098.hp1
NA18906.hp2
HG03098.hp1
NA18906.hp2
 intron_variant MODIFIER c.34-1837G>A
c.34-1837G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51483151
chr1:51483163 A
A
 C
C
 2 a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0006g0034
a0002c0001t0006g0035
 2 HG03098.hp1
NA18906.hp2
HG03098.hp1
NA18906.hp2
 intron_variant MODIFIER c.34-1849T>G
c.34-1849T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51483163
chr1:51483398 A
A
 AGT
AGT
 44 a0001c0002t0001g0045
a0001c0002t0001g0051
a0001c0002t0001g0052
others(41): Show 
a0001c0002t0001g0045
a0001c0002t0001g0051
a0001c0002t0001g0052
a0001c0002t0001g0064
a0001c0002t0001g0072
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0111
a0001c0002t0001g0113
a0001c0002t0001g0114
a0001c0002t0001g0128
a0001c0002t0003g0077
a0001c0002t0019g0055
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0090
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0100
a0001c0003t0001g0107
a0001c0003t0001g0110
a0001c0003t0003g0054
a0001c0006t0001g0104
a0001c0006t0001g0112
a0002c0001t0006g0035
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0002
a0003c0005t0001g0017
a0003c0005t0001g0057
a0004c0015t0011g0152
a0010c0013t0001g0063
 44 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(41): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00741.hp1
HG01074.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01257.hp1
HG01261.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG02145.hp1
HG02145.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02735.hp1
HG02970.hp1
HG03195.hp1
HG03471.hp2
HG03491.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18747.hp2
NA18906.hp2
NA18957.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.34-2086_34-2085dup
others(2): Show 
c.34-2086_34-2085dupAC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51483398
chr1:51483398 A
A
 AGTGT
AGTGT
 9 a0001c0002t0001g0080
a0001c0002t0013g0065
a0001c0002t0018g0105
others(6): Show 
a0001c0002t0001g0080
a0001c0002t0013g0065
a0001c0002t0018g0105
a0001c0003t0001g0093
a0001c0003t0001g0099
a0001c0003t0001g0101
a0001c0003t0001g0102
a0001c0003t0001g0108
a0007c0009t0015g0125
 9 HG00639.hp1
HG00733.hp1
HG00738.hp2
others(6): Show 
HG00639.hp1
HG00733.hp1
HG00738.hp2
HG01261.hp1
HG01346.hp2
HG01952.hp1
HG01952.hp2
HG03486.hp1
NA18957.hp2
 intron_variant MODIFIER c.34-2088_34-2085dup
others(4): Show 
c.34-2088_34-2085dupACAC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51483398
chr1:51483398 A
A
 AGTGTGT
AGTGTGT
 7 a0001c0002t0001g0056
a0001c0002t0001g0073
a0001c0003t0001g0053
others(4): Show 
a0001c0002t0001g0056
a0001c0002t0001g0073
a0001c0003t0001g0053
a0001c0003t0001g0089
a0001c0003t0001g0094
a0002c0001t0006g0034
a0002c0001t0009g0116
 7 HG00642.hp2
HG01192.hp2
HG02258.hp1
others(4): Show 
HG00642.hp2
HG01192.hp2
HG02258.hp1
HG03098.hp1
HG03492.hp1
HG04199.hp2
NA19030.hp2
 intron_variant MODIFIER c.34-2090_34-2085dup
others(6): Show 
c.34-2090_34-2085dupACACAC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51483398
chr1:51483398 A
A
 AGTGTGTG
others(3): Show 
AGTGTGTGTGT
 1 a0002c0001t0022g0115
a0002c0001t0022g0115
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.34-2094_34-2085dup
others(10): Show 
c.34-2094_34-2085dupACACACACAC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51483398
chr1:51483398 AGT
AGT
 A
A
 11 a0001c0002t0003g0061
a0002c0001t0004g0018
a0002c0001t0004g0019
others(8): Show 
a0001c0002t0003g0061
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0124
a0002c0001t0012g0001
a0002c0001t0012g0003
 11 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(8): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02257.hp1
HG03139.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.34-2086_34-2085del
others(2): Show 
c.34-2086_34-2085delAC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51483398
chr1:51483398 AGTGT
AGTGT
 A
A
 4 a0001c0002t0003g0049
a0001c0002t0003g0074
a0002c0001t0010g0044
others(1): Show 
a0001c0002t0003g0049
a0001c0002t0003g0074
a0002c0001t0010g0044
a0006c0010t0026g0129
 4 HG01109.hp2
HG02818.hp1
HG03041.hp2
others(1): Show 
HG01109.hp2
HG02818.hp1
HG03041.hp2
HG03098.hp2
 intron_variant MODIFIER c.34-2088_34-2085del
others(4): Show 
c.34-2088_34-2085delACAC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51483398
chr1:51483398 AGTGTGT
AGTGTGT
 A
A
 14 a0001c0002t0002g0030
a0001c0002t0002g0031
a0002c0001t0007g0133
others(11): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0002c0001t0007g0133
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0137
a0002c0007t0010g0043
 14 HG00642.hp1
HG01346.hp1
HG01891.hp1
others(11): Show 
HG00642.hp1
HG01346.hp1
HG01891.hp1
HG02109.hp2
HG02630.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG03209.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA19240.hp1
 intron_variant MODIFIER c.34-2090_34-2085del
others(6): Show 
c.34-2090_34-2085delACACAC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51483398
chr1:51483398 AGTGTGTG
others(1): Show 
AGTGTGTGT
 A
A
 5 a0001c0002t0017g0032
a0002c0001t0007g0134
a0002c0001t0007g0135
others(2): Show 
a0001c0002t0017g0032
a0002c0001t0007g0134
a0002c0001t0007g0135
a0005c0008t0002g0033
a0009c0012t0007g0136
 5 HG01257.hp2
HG02717.hp1
HG02976.hp1
others(2): Show 
HG01257.hp2
HG02717.hp1
HG02976.hp1
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-2092_34-2085del
others(8): Show 
c.34-2092_34-2085delACACACAC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51483398
chr1:51483398 AGTGTGTG
others(3): Show 
AGTGTGTGTGT
 A
A
 6 a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
others(3): Show 
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0014t0002g0010
 6 HG01167.hp2
HG02486.hp2
HG02922.hp1
others(3): Show 
HG01167.hp2
HG02486.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
NA18522.hp1
 intron_variant MODIFIER c.34-2094_34-2085del
others(10): Show 
c.34-2094_34-2085delACACACACAC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51483398
chr1:51483398 AGTGTGTG
others(5): Show 
AGTGTGTGTGTGT
 A
A
 7 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
others(4): Show 
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 7 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(4): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
HG02630.hp1
HG03453.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.34-2096_34-2085del
others(12): Show 
c.34-2096_34-2085delACACACACACAC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51483398
chr1:51483416 T
T
 TGA
TGA
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.34-2103_34-2102ins
others(2): Show 
c.34-2103_34-2102insTC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51483416
chr1:51483518 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-2204C>T
c.34-2204C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51483518
chr1:51483537 G
G
 T
T
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.34-2223C>A
c.34-2223C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51483537
chr1:51483567 G
G
 A
A
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.34-2253C>T
c.34-2253C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51483567
chr1:51483578 T
T
 C
C
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.34-2264A>G
c.34-2264A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51483578
chr1:51483587 C
C
 A
A
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.34-2273G>T
c.34-2273G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51483587
chr1:51483635 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-2321C>T
c.34-2321C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51483635
chr1:51483829 G
G
 A
A
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.34-2515C>T
c.34-2515C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51483829
chr1:51483878 T
T
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-2564A>G
c.34-2564A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51483878
chr1:51483917 C
C
 A
A
 3 a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
 3 HG02257.hp1
HG03139.hp2
NA19043.hp2
HG02257.hp1
HG03139.hp2
NA19043.hp2
 intron_variant MODIFIER c.34-2603G>T
c.34-2603G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51483917
chr1:51484108 C
C
 T
T
 1 a0001c0002t0001g0082
a0001c0002t0001g0082
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.34-2794G>A
c.34-2794G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51484108
chr1:51484112 C
C
 T
T
 151 a0001c0002t0001g0026
a0001c0002t0001g0045
a0001c0002t0001g0046
others(148): Show 
a0001c0002t0001g0026
a0001c0002t0001g0045
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0051
a0001c0002t0001g0052
a0001c0002t0001g0056
a0001c0002t0001g0064
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0111
a0001c0002t0001g0113
a0001c0002t0001g0114
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0003g0049
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0003g0061
a0001c0002t0003g0069
a0001c0002t0003g0070
a0001c0002t0003g0074
a0001c0002t0003g0075
a0001c0002t0003g0076
a0001c0002t0003g0077
a0001c0002t0003g0106
a0001c0002t0013g0062
a0001c0002t0013g0065
a0001c0002t0017g0032
a0001c0002t0018g0105
a0001c0002t0019g0055
a0001c0002t0020g0050
a0001c0003t0001g0053
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0068
a0001c0003t0001g0081
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
a0001c0003t0001g0102
a0001c0003t0001g0103
a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0003t0001g0109
a0001c0003t0001g0110
a0001c0003t0003g0054
a0001c0006t0001g0104
a0001c0006t0001g0112
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0003c0005t0001g0017
a0003c0005t0001g0057
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
a0010c0013t0001g0063
 151 HG00438.hp1
HG00438.hp2
HG00558.hp1
others(148): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03834.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18957.hp1
NA18957.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.34-2798G>A
c.34-2798G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51484112
chr1:51484160 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-2846C>T
c.34-2846C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51484160
chr1:51484233 T
T
 C
C
 2 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0028
a0002c0001t0006g0029
 2 HG02572.hp1
NA18522.hp2
HG02572.hp1
NA18522.hp2
 intron_variant MODIFIER c.34-2919A>G
c.34-2919A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51484233
chr1:51484293 C
C
 A
A
 2 a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0020
a0002c0001t0004g0021
 2 HG01515.hp2
HG01517.hp2
HG01515.hp2
HG01517.hp2
 intron_variant MODIFIER c.34-2979G>T
c.34-2979G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51484293
chr1:51484398 T
T
 C
C
 9 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(6): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0007c0009t0015g0125
 9 HG02257.hp1
HG02572.hp1
HG03041.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.34-3084A>G
c.34-3084A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51484398
chr1:51484444 T
T
 A
A
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.34-3130A>T
c.34-3130A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51484444
chr1:51484478 C
C
 T
T
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.34-3164G>A
c.34-3164G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51484478
chr1:51484579 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-3265C>T
c.34-3265C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51484579
chr1:51484669 T
T
 C
C
 1 a0001c0002t0001g0092
a0001c0002t0001g0092
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.34-3355A>G
c.34-3355A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51484669
chr1:51484850 T
T
 C
C
 77 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(74): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 77 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(74): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.34-3536A>G
c.34-3536A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51484850
chr1:51484949 T
T
 A
A
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.34-3635A>T
c.34-3635A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51484949
chr1:51484958 GTTTA
GTTTA
 G
G
 4 a0001c0003t0001g0098
a0002c0001t0009g0117
a0002c0001t0009g0118
others(1): Show 
a0001c0003t0001g0098
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 4 HG00735.hp2
HG02735.hp1
HG03491.hp1
others(1): Show 
HG00735.hp2
HG02735.hp1
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.34-3648_34-3645del
others(4): Show 
c.34-3648_34-3645delTAAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51484958
chr1:51484986 T
T
 G
G
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.34-3672A>C
c.34-3672A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51484986
chr1:51485031 C
C
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-3717G>T
c.34-3717G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51485031
chr1:51485295 C
C
 T
T
 3 a0001c0002t0001g0083
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0083
a0001c0002t0001g0126
a0001c0002t0001g0127
 3 HG00438.hp1
NA18747.hp1
NA19011.hp1
HG00438.hp1
NA18747.hp1
NA19011.hp1
 intron_variant MODIFIER c.34-3981G>A
c.34-3981G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51485295
chr1:51485304 G
G
 A
A
 2 a0002c0001t0009g0116
a0002c0001t0022g0115
a0002c0001t0009g0116
a0002c0001t0022g0115
 2 HG06807.hp1
NA19030.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.34-3990C>T
c.34-3990C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51485304
chr1:51485455 T
T
 A
A
 9 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(6): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0007c0009t0015g0125
 9 HG02257.hp1
HG02572.hp1
HG03041.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.34-4141A>T
c.34-4141A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51485455
chr1:51485833 T
T
 C
C
 1 a0001c0003t0001g0103
a0001c0003t0001g0103
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.34-4519A>G
c.34-4519A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51485833
chr1:51486246 C
C
 T
T
 9 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(6): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
 9 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(6): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.34-4932G>A
c.34-4932G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51486246
chr1:51486263 C
C
 CA
CA
 5 a0001c0002t0001g0056
a0002c0001t0004g0022
a0002c0001t0004g0024
others(2): Show 
a0001c0002t0001g0056
a0002c0001t0004g0022
a0002c0001t0004g0024
a0002c0001t0009g0116
a0002c0001t0022g0115
 5 HG00733.hp2
HG04199.hp2
HG06807.hp1
others(2): Show 
HG00733.hp2
HG04199.hp2
HG06807.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.34-4950dupT
c.34-4950dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51486263
chr1:51486413 G
G
 A
A
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.34-5099C>T
c.34-5099C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51486413
chr1:51486425 CA
CA
 C
C
 10 a0001c0002t0001g0052
a0001c0002t0003g0058
a0001c0002t0003g0059
others(7): Show 
a0001c0002t0001g0052
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0003t0001g0094
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0012g0002
a0002c0004t0002g0008
 10 HG00735.hp2
HG01192.hp2
HG02055.hp1
others(7): Show 
HG00735.hp2
HG01192.hp2
HG02055.hp1
HG02145.hp1
HG02451.hp1
HG02723.hp2
HG03491.hp1
HG03492.hp2
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.34-5112delT
c.34-5112delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51486425
chr1:51486425 CAA
CAA
 C
C
 112 a0001c0002t0001g0026
a0001c0002t0001g0045
a0001c0002t0001g0046
others(109): Show 
a0001c0002t0001g0026
a0001c0002t0001g0045
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0051
a0001c0002t0001g0056
a0001c0002t0001g0064
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0111
a0001c0002t0001g0113
a0001c0002t0001g0114
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0003g0049
a0001c0002t0003g0061
a0001c0002t0003g0069
a0001c0002t0003g0070
a0001c0002t0003g0074
a0001c0002t0003g0076
a0001c0002t0003g0077
a0001c0002t0013g0062
a0001c0002t0013g0065
a0001c0002t0017g0032
a0001c0002t0018g0105
a0001c0002t0019g0055
a0001c0002t0020g0050
a0001c0003t0001g0053
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0081
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0001g0093
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
a0001c0003t0001g0102
a0001c0003t0001g0103
a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0003t0001g0109
a0001c0003t0001g0110
a0001c0003t0003g0054
a0001c0006t0001g0104
a0001c0006t0001g0112
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0012g0001
a0002c0001t0012g0003
a0002c0001t0016g0027
a0002c0001t0022g0115
a0002c0004t0002g0004
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0003c0005t0001g0017
a0003c0005t0001g0057
a0005c0008t0002g0033
a0007c0009t0015g0125
a0010c0013t0001g0063
 112 HG00438.hp1
HG00438.hp2
HG00558.hp1
others(109): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01257.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03834.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18957.hp1
NA18957.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.34-5113_34-5112del
others(2): Show 
c.34-5113_34-5112delTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51486425
chr1:51486425 CAAA
CAAA
 C
C
 27 a0001c0003t0001g0068
a0002c0001t0005g0138
a0002c0001t0005g0139
others(24): Show 
a0001c0003t0001g0068
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0005
a0004c0015t0011g0152
a0006c0010t0026g0129
a0008c0011t0025g0140
a0009c0012t0007g0136
 27 HG00642.hp1
HG01109.hp1
HG01109.hp2
others(24): Show 
HG00642.hp1
HG01109.hp1
HG01109.hp2
HG01175.hp1
HG01257.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03471.hp2
HG03486.hp2
HG03834.hp1
HG04199.hp1
NA19030.hp1
NA19043.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.34-5114_34-5112del
others(3): Show 
c.34-5114_34-5112delTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51486425
chr1:51486799 C
C
 T
T
 1 a0001c0002t0001g0084
a0001c0002t0001g0084
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.34-5485G>A
c.34-5485G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51486799
chr1:51486825 T
T
 TTG
TTG
 13 a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0114
others(10): Show 
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0114
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0002
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(10): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
HG03654.hp2
HG03688.hp1
HG04204.hp1
NA19043.hp1
NA19043.hp2
NA20129.hp2
 intron_variant MODIFIER c.34-5513_34-5512dup
others(2): Show 
c.34-5513_34-5512dupCA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51486825
chr1:51486959 T
T
 A
A
 1 a0001c0003t0001g0095
a0001c0003t0001g0095
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.34-5645A>T
c.34-5645A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51486959
chr1:51487111 T
T
 C
C
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-5797A>G
c.34-5797A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51487111
chr1:51487118 T
T
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-5804A>T
c.34-5804A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51487118
chr1:51487177 A
A
 T
T
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-5863T>A
c.34-5863T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51487177
chr1:51487246 G
G
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-5932C>G
c.34-5932C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51487246
chr1:51487458 T
T
 A
A
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-6144A>T
c.34-6144A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51487458
chr1:51487634 A
A
 G
G
 1 a0010c0013t0001g0063
a0010c0013t0001g0063
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.34-6320T>C
c.34-6320T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51487634
chr1:51487776 C
C
 T
T
 1 a0002c0004t0002g0013
a0002c0004t0002g0013
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.34-6462G>A
c.34-6462G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51487776
chr1:51487896 T
T
 C
C
 2 a0002c0001t0009g0116
a0002c0001t0022g0115
a0002c0001t0009g0116
a0002c0001t0022g0115
 2 HG06807.hp1
NA19030.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.34-6582A>G
c.34-6582A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51487896
chr1:51488255 T
T
 TGTCAAA
TGTCAAA
 9 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(6): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
 9 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(6): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.34-6947_34-6942dup
others(6): Show 
c.34-6947_34-6942dupTTTGAC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51488255
chr1:51488258 C
C
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-6944G>A
c.34-6944G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51488258
chr1:51488463 A
A
 G
G
 2 a0002c0001t0009g0116
a0002c0001t0022g0115
a0002c0001t0009g0116
a0002c0001t0022g0115
 2 HG06807.hp1
NA19030.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.34-7149T>C
c.34-7149T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51488463
chr1:51488472 T
T
 TA
TA
 34 a0001c0002t0001g0051
a0001c0002t0001g0056
a0001c0002t0001g0082
others(31): Show 
a0001c0002t0001g0051
a0001c0002t0001g0056
a0001c0002t0001g0082
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0003g0058
a0001c0002t0013g0062
a0001c0003t0001g0066
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0108
a0001c0006t0001g0104
a0001c0006t0001g0112
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0010g0042
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 34 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(31): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01175.hp1
HG01192.hp2
HG01346.hp1
HG01346.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp2
HG02055.hp1
HG02486.hp2
HG02572.hp1
HG02615.hp2
HG02630.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp1
HG03688.hp2
HG04199.hp2
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19240.hp1
 intron_variant MODIFIER c.34-7159dupT
c.34-7159dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51488472
chr1:51488472 T
T
 TAAAA
TAAAA
 9 a0002c0001t0004g0018
a0002c0001t0004g0021
a0002c0001t0004g0022
others(6): Show 
a0002c0001t0004g0018
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
a0002c0001t0012g0002
a0007c0009t0015g0125
 9 HG00733.hp2
HG00735.hp1
HG01515.hp2
others(6): Show 
HG00733.hp2
HG00735.hp1
HG01515.hp2
HG02109.hp1
HG02922.hp2
HG03486.hp1
NA19043.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.34-7162_34-7159dup
others(4): Show 
c.34-7162_34-7159dupTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51488472
chr1:51488472 T
T
 TAAAAAAA
others(6): Show 
TAAAAAAAAAAAAA
 1 a0002c0001t0007g0135
a0002c0001t0007g0135
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.34-7171_34-7159dup
others(13): Show 
c.34-7171_34-7159dupTTTTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51488472
chr1:51488472 T
T
 TAAAAAAA
others(7): Show 
TAAAAAAAAAAAAAA
 2 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0133
a0002c0001t0007g0134
 2 HG00642.hp1
NA20129.hp2
HG00642.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-7172_34-7159dup
others(14): Show 
c.34-7172_34-7159dupTTTTTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51488472
chr1:51488472 T
T
 TAAAAAAA
others(6): Show 
TAAAAAAAAAAACA
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.34-7159_34-7158ins
others(13): Show 
c.34-7159_34-7158insTGTTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51488472
chr1:51488472 TA
TA
 T
T
 5 a0001c0003t0001g0068
a0001c0003t0001g0101
a0001c0003t0001g0103
others(2): Show 
a0001c0003t0001g0068
a0001c0003t0001g0101
a0001c0003t0001g0103
a0001c0003t0001g0110
a0002c0001t0009g0118
 5 HG01167.hp1
HG01952.hp2
HG03491.hp1
others(2): Show 
HG01167.hp1
HG01952.hp2
HG03491.hp1
HG03834.hp1
HG03834.hp2
 intron_variant MODIFIER c.34-7159delT
c.34-7159delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51488472
chr1:51488485 A
A
 C
C
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.34-7171T>G
c.34-7171T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51488485
chr1:51488577 C
C
 T
T
 2 a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0014g0036
a0002c0001t0014g0037
 2 HG02451.hp2
HG02976.hp2
HG02451.hp2
HG02976.hp2
 intron_variant MODIFIER c.34-7263G>A
c.34-7263G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51488577
chr1:51488737 TCTC
TCTC
 T
T
 4 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(1): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0005c0008t0002g0033
 4 HG02630.hp2
HG02717.hp1
HG02976.hp1
others(1): Show 
HG02630.hp2
HG02717.hp1
HG02976.hp1
NA19240.hp1
 intron_variant MODIFIER c.34-7426_34-7424del
others(3): Show 
c.34-7426_34-7424delGAG
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51488737
chr1:51488782 A
A
 G
G
 1 a0001c0002t0013g0065
a0001c0002t0013g0065
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.34-7468T>C
c.34-7468T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51488782
chr1:51488869 G
G
 A
A
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.34-7555C>T
c.34-7555C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51488869
chr1:51488992 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-7678C>T
c.34-7678C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51488992
chr1:51488997 A
A
 C
C
 1 a0007c0009t0015g0125
a0007c0009t0015g0125
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.34-7683T>G
c.34-7683T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51488997
chr1:51489014 A
A
 G
G
 2 a0001c0003t0001g0090
a0001c0003t0003g0054
a0001c0003t0001g0090
a0001c0003t0003g0054
 2 HG01884.hp1
HG02145.hp2
HG01884.hp1
HG02145.hp2
 intron_variant MODIFIER c.34-7700T>C
c.34-7700T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51489014
chr1:51489140 T
T
 TA
TA
 8 a0001c0002t0001g0056
a0002c0001t0006g0028
a0002c0001t0006g0029
others(5): Show 
a0001c0002t0001g0056
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0016g0027
 8 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(5): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
HG02572.hp1
HG03041.hp1
HG04199.hp2
NA18522.hp2
NA20805.hp2
 intron_variant MODIFIER c.34-7827dupT
c.34-7827dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51489140
chr1:51489140 T
T
 TAAA
TAAA
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-7829_34-7827dup
others(3): Show 
c.34-7829_34-7827dupTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51489140
chr1:51489280 G
G
 A
A
 5 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(2): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0016g0027
 5 HG02572.hp1
HG03041.hp1
HG03098.hp1
others(2): Show 
HG02572.hp1
HG03041.hp1
HG03098.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.34-7966C>T
c.34-7966C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51489280
chr1:51489286 C
C
 CAT
CAT
 9 a0001c0002t0001g0078
a0001c0002t0017g0032
a0001c0002t0018g0105
others(6): Show 
a0001c0002t0001g0078
a0001c0002t0017g0032
a0001c0002t0018g0105
a0001c0002t0020g0050
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0012g0001
a0002c0001t0012g0003
a0002c0001t0016g0027
 9 HG02257.hp1
HG02572.hp1
HG02717.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG02717.hp1
HG02738.hp1
HG03041.hp1
HG03139.hp2
HG04228.hp1
NA18522.hp2
NA18957.hp2
 intron_variant MODIFIER c.34-7974_34-7973dup
others(2): Show 
c.34-7974_34-7973dupAT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51489286
chr1:51489286 C
C
 CATATATA
others(1): Show 
CATATATAT
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.34-7980_34-7973dup
others(8): Show 
c.34-7980_34-7973dupATATATAT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51489286
chr1:51489286 C
C
 CATATATA
others(5): Show 
CATATATATATAT
 5 a0002c0001t0004g0040
a0002c0001t0010g0041
a0002c0001t0010g0042
others(2): Show 
a0002c0001t0004g0040
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 5 HG02109.hp2
HG02717.hp2
HG02818.hp1
others(2): Show 
HG02109.hp2
HG02717.hp2
HG02818.hp1
HG03209.hp2
HG03453.hp2
 intron_variant MODIFIER c.34-7984_34-7973dup
others(12): Show 
c.34-7984_34-7973dupATATATATATAT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51489286
chr1:51489286 C
C
 CATATATA
others(13): Show 
CATATATATATATATATATAT
 1 a0002c0001t0004g0039
a0002c0001t0004g0039
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.34-7992_34-7973dup
others(20): Show 
c.34-7992_34-7973dupATATATATATATATATATAT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51489286
chr1:51489286 CAT
CAT
 C
C
 11 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(8): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0124
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 11 HG00733.hp2
HG00735.hp1
HG00735.hp2
others(8): Show 
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG03491.hp1
HG03492.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.34-7974_34-7973del
others(2): Show 
c.34-7974_34-7973delAT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51489286
chr1:51489299 ATATATAT
others(9): Show 
ATATATATGTATGTATG
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-8001_34-7986del
others(16): Show 
c.34-8001_34-7986delCATACATACATATATA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51489299
chr1:51489303 A
A
 ATATATAT
others(19): Show 
ATATATATATATATATATATATGTATG
 1 a0002c0001t0004g0038
a0002c0001t0004g0038
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.34-7990_34-7989ins
others(26): Show 
c.34-7990_34-7989insCATACATATATATATATATATATATA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51489303
chr1:51489307 G
G
 A
A
 8 a0001c0002t0001g0064
a0001c0002t0001g0078
a0001c0002t0001g0082
others(5): Show 
a0001c0002t0001g0064
a0001c0002t0001g0078
a0001c0002t0001g0082
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0114
a0003c0005t0001g0017
a0003c0005t0001g0057
 8 HG01175.hp2
HG01257.hp1
HG03491.hp2
others(5): Show 
HG01175.hp2
HG01257.hp1
HG03491.hp2
HG03654.hp2
HG03688.hp1
HG04204.hp1
HG04228.hp1
NA20752.hp2
 intron_variant MODIFIER c.34-7993C>T
c.34-7993C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51489307
chr1:51489348 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-8034C>T
c.34-8034C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51489348
chr1:51489385 G
G
 A
A
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.34-8071C>T
c.34-8071C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51489385
chr1:51489414 C
C
 T
T
 1 a0009c0012t0007g0136
a0009c0012t0007g0136
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.34-8100G>A
c.34-8100G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51489414
chr1:51489457 G
G
 A
A
 2 a0001c0003t0001g0096
a0001c0003t0001g0098
a0001c0003t0001g0096
a0001c0003t0001g0098
 2 HG02735.hp1
HG04204.hp2
HG02735.hp1
HG04204.hp2
 intron_variant MODIFIER c.34-8143C>T
c.34-8143C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51489457
chr1:51489604 C
C
 T
T
 1 a0001c0003t0001g0099
a0001c0003t0001g0099
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.34-8290G>A
c.34-8290G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51489604
chr1:51490065 A
A
 C
C
 3 a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
 3 HG02055.hp1
HG02451.hp1
NA20300.hp2
HG02055.hp1
HG02451.hp1
NA20300.hp2
 intron_variant MODIFIER c.34-8751T>G
c.34-8751T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51490065
chr1:51490155 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-8841C>T
c.34-8841C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51490155
chr1:51490186 T
T
 C
C
 1 a0001c0003t0001g0081
a0001c0003t0001g0081
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.34-8872A>G
c.34-8872A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51490186
chr1:51490330 C
C
 A
A
 1 a0002c0001t0008g0122
a0002c0001t0008g0122
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.34-9016G>T
c.34-9016G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51490330
chr1:51490347 C
C
 T
T
 16 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(13): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 16 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(13): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02109.hp2
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG03209.hp2
HG03453.hp2
NA19240.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.34-9033G>A
c.34-9033G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51490347
chr1:51490356 G
G
 C
C
 1 a0002c0001t0008g0122
a0002c0001t0008g0122
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.34-9042C>G
c.34-9042C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51490356
chr1:51490378 T
T
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-9064A>T
c.34-9064A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51490378
chr1:51490393 A
A
 G
G
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-9079T>C
c.34-9079T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51490393
chr1:51490458 G
G
 A
A
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.34-9144C>T
c.34-9144C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51490458
chr1:51490480 G
G
 A
A
 4 a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
others(1): Show 
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 4 HG02109.hp2
HG02717.hp2
HG02818.hp1
others(1): Show 
HG02109.hp2
HG02717.hp2
HG02818.hp1
HG03209.hp2
 intron_variant MODIFIER c.34-9166C>T
c.34-9166C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51490480
chr1:51490564 C
C
 CA
CA
 11 a0001c0002t0001g0048
a0001c0002t0001g0056
a0001c0002t0001g0064
others(8): Show 
a0001c0002t0001g0048
a0001c0002t0001g0056
a0001c0002t0001g0064
a0001c0002t0001g0082
a0001c0002t0001g0114
a0001c0002t0003g0077
a0002c0001t0009g0116
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
a0002c0014t0002g0010
 11 HG01175.hp2
HG02486.hp2
HG02818.hp2
others(8): Show 
HG01175.hp2
HG02486.hp2
HG02818.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG04199.hp2
HG04204.hp1
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.34-9251dupT
c.34-9251dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51490564
chr1:51490564 CA
CA
 C
C
 18 a0001c0002t0001g0051
a0001c0002t0001g0072
a0001c0002t0001g0073
others(15): Show 
a0001c0002t0001g0051
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0088
a0001c0002t0001g0091
a0001c0002t0001g0111
a0001c0002t0001g0128
a0001c0002t0013g0065
a0001c0002t0018g0105
a0001c0002t0019g0055
a0001c0002t0020g0050
a0001c0003t0001g0107
a0002c0001t0004g0019
a0002c0001t0005g0138
 18 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(15): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01168.hp2
HG01192.hp1
HG01261.hp2
HG01952.hp1
HG02738.hp1
HG03492.hp1
HG03688.hp2
HG04115.hp1
HG04115.hp2
HG04228.hp2
NA18747.hp2
NA18957.hp2
NA19011.hp2
NA19030.hp1
NA20752.hp1
 intron_variant MODIFIER c.34-9251delT
c.34-9251delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51490564
chr1:51490564 CAA
CAA
 C
C
 45 a0002c0001t0004g0018
a0002c0001t0004g0020
a0002c0001t0004g0021
others(42): Show 
a0002c0001t0004g0018
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0007t0010g0043
a0004c0015t0011g0152
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
 45 HG00733.hp2
HG00735.hp1
HG00738.hp1
others(42): Show 
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01175.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
NA18906.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.34-9252_34-9251del
others(2): Show 
c.34-9252_34-9251delTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51490564
chr1:51490632 A
A
 C
C
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-9318T>G
c.34-9318T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51490632
chr1:51491116 A
A
 G
G
 1 a0001c0002t0001g0045
a0001c0002t0001g0045
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.34-9802T>C
c.34-9802T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51491116
chr1:51491464 T
T
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-10150A>G
c.34-10150A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51491464
chr1:51491633 G
G
 C
C
 4 a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
others(1): Show 
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0007c0009t0015g0125
 4 HG02257.hp1
HG03139.hp2
HG03486.hp1
others(1): Show 
HG02257.hp1
HG03139.hp2
HG03486.hp1
NA19043.hp2
 intron_variant MODIFIER c.34-10319C>G
c.34-10319C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51491633
chr1:51491648 T
T
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-10334A>G
c.34-10334A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51491648
chr1:51491661 A
A
 T
T
 1 a0002c0001t0005g0139
a0002c0001t0005g0139
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.34-10347T>A
c.34-10347T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51491661
chr1:51491674 AGAACAAC
others(11): Show 
AGAACAACTCTAAAGCTAG
 A
A
 1 a0001c0002t0013g0065
a0001c0002t0013g0065
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.34-10378_34-10361d
others(20): Show 
c.34-10378_34-10361delCTAGCTTTAGAGTTGTTC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51491674
chr1:51491851 CTCATT
CTCATT
 C
C
 3 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
 3 HG00642.hp1
HG01257.hp2
NA20129.hp2
HG00642.hp1
HG01257.hp2
NA20129.hp2
 intron_variant MODIFIER c.34-10542_34-10538d
others(7): Show 
c.34-10542_34-10538delAATGA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51491851
chr1:51491853 C
C
 A
A
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.34-10539G>T
c.34-10539G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51491853
chr1:51491854 ATTTAATT
ATTTAATT
 A
A
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.34-10547_34-10541d
others(9): Show 
c.34-10547_34-10541delAATTAAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51491854
chr1:51491859 A
A
 AT
AT
 15 a0001c0002t0001g0045
a0001c0002t0001g0064
a0001c0002t0002g0030
others(12): Show 
a0001c0002t0001g0045
a0001c0002t0001g0064
a0001c0002t0002g0030
a0001c0003t0001g0081
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0009g0116
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0022g0115
a0002c0014t0002g0010
a0007c0009t0015g0125
a0010c0013t0001g0063
 15 HG01175.hp2
HG02451.hp2
HG02486.hp2
others(12): Show 
HG01175.hp2
HG02451.hp2
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03453.hp1
HG03486.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19240.hp1
 intron_variant MODIFIER c.34-10546dupA
c.34-10546dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51491859
chr1:51491859 A
A
 ATTT
ATTT
 11 a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
others(8): Show 
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0144
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 11 HG01175.hp1
HG01884.hp2
HG01891.hp2
others(8): Show 
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA20300.hp1
 intron_variant MODIFIER c.34-10548_34-10546d
others(5): Show 
c.34-10548_34-10546dupAAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51491859
chr1:51491859 AT
AT
 A
A
 5 a0001c0003t0001g0090
a0001c0003t0001g0097
a0001c0003t0001g0103
others(2): Show 
a0001c0003t0001g0090
a0001c0003t0001g0097
a0001c0003t0001g0103
a0001c0003t0001g0110
a0002c0004t0002g0008
 5 HG01167.hp1
HG01515.hp1
HG01884.hp1
others(2): Show 
HG01167.hp1
HG01515.hp1
HG01884.hp1
HG02723.hp2
HG03834.hp2
 intron_variant MODIFIER c.34-10546delA
c.34-10546delA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51491859
chr1:51491860 T
T
 A
A
 1 a0009c0012t0007g0136
a0009c0012t0007g0136
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.34-10546A>T
c.34-10546A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51491860
chr1:51492110 A
A
 G
G
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.34-10796T>C
c.34-10796T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51492110
chr1:51492298 C
C
 T
T
 36 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(33): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
a0004c0015t0011g0152
a0006c0010t0026g0129
a0007c0009t0015g0125
a0009c0012t0007g0136
 36 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(33): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01167.hp2
HG01257.hp2
HG01346.hp1
HG01516.hp1
HG01517.hp1
HG01891.hp1
HG02257.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03486.hp1
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp1
NA19043.hp2
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.34-10984G>A
c.34-10984G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51492298
chr1:51492715 C
C
 CA
CA
 3 a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
 3 HG02257.hp1
HG03139.hp2
NA19043.hp2
HG02257.hp1
HG03139.hp2
NA19043.hp2
 intron_variant MODIFIER c.34-11402dupT
c.34-11402dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51492715
chr1:51492719 C
C
 A
A
 10 a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
others(7): Show 
a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0018g0105
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0007c0009t0015g0125
 10 HG00639.hp2
HG02257.hp1
HG02647.hp1
others(7): Show 
HG00639.hp2
HG02257.hp1
HG02647.hp1
HG02818.hp2
HG02976.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp1
NA18957.hp2
NA19043.hp2
 intron_variant MODIFIER c.34-11405G>T
c.34-11405G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51492719
chr1:51492723 A
A
 C
C
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.34-11409T>G
c.34-11409T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51492723
chr1:51492808 G
G
 GC
GC
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-11495dupG
c.34-11495dupG
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51492808
chr1:51493028 C
C
 T
T
 3 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0123
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0123
 3 HG00738.hp1
HG01516.hp1
HG01517.hp1
HG00738.hp1
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.34-11714G>A
c.34-11714G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51493028
chr1:51493137 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-11823C>T
c.34-11823C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51493137
chr1:51493233 C
C
 T
T
 3 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
 3 HG02572.hp1
HG03041.hp1
NA18522.hp2
HG02572.hp1
HG03041.hp1
NA18522.hp2
 intron_variant MODIFIER c.34-11919G>A
c.34-11919G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51493233
chr1:51493242 T
T
 A
A
 1 a0001c0002t0019g0055
a0001c0002t0019g0055
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.34-11928A>T
c.34-11928A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51493242
chr1:51493318 G
G
 A
A
 1 a0001c0002t0001g0111
a0001c0002t0001g0111
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.34-12004C>T
c.34-12004C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51493318
chr1:51493528 T
T
 TTAAA
TTAAA
 15 a0001c0002t0001g0045
a0001c0002t0001g0046
a0001c0002t0001g0047
others(12): Show 
a0001c0002t0001g0045
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0078
a0001c0002t0001g0082
a0001c0002t0001g0087
a0001c0003t0001g0098
a0001c0003t0001g0102
a0001c0003t0001g0110
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0005g0138
a0002c0001t0005g0144
a0002c0007t0010g0043
a0003c0005t0001g0057
 15 HG00733.hp1
HG01167.hp1
HG01257.hp1
others(12): Show 
HG00733.hp1
HG01167.hp1
HG01257.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp2
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02735.hp1
HG03471.hp1
HG03491.hp2
HG03688.hp1
HG04228.hp1
NA19030.hp1
 intron_variant MODIFIER c.34-12218_34-12215d
others(6): Show 
c.34-12218_34-12215dupTTTA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51493528
chr1:51493528 TTAAA
TTAAA
 T
T
 58 a0001c0002t0001g0052
a0001c0002t0001g0056
a0001c0002t0001g0073
others(55): Show 
a0001c0002t0001g0052
a0001c0002t0001g0056
a0001c0002t0001g0073
a0001c0002t0001g0080
a0001c0002t0001g0084
a0001c0002t0001g0088
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0002t0001g0111
a0001c0002t0001g0114
a0001c0002t0003g0049
a0001c0002t0003g0058
a0001c0002t0003g0060
a0001c0002t0003g0069
a0001c0002t0003g0076
a0001c0002t0013g0062
a0001c0002t0013g0065
a0001c0002t0017g0032
a0001c0002t0018g0105
a0001c0002t0019g0055
a0001c0002t0020g0050
a0001c0003t0001g0053
a0001c0003t0001g0066
a0001c0003t0001g0081
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0001g0093
a0001c0003t0001g0099
a0001c0003t0003g0054
a0002c0001t0004g0023
a0002c0001t0004g0025
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0142
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0010g0042
a0002c0001t0012g0001
a0002c0001t0012g0003
a0002c0001t0016g0027
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0011
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0016
a0002c0014t0002g0010
a0005c0008t0002g0033
a0010c0013t0001g0063
 58 HG00438.hp2
HG00558.hp2
HG00639.hp1
others(55): Show 
HG00438.hp2
HG00558.hp2
HG00639.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03453.hp1
HG03453.hp2
HG03492.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18957.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.34-12218_34-12215d
others(6): Show 
c.34-12218_34-12215delTTTA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51493528
chr1:51493528 TTAAATAA
others(1): Show 
TTAAATAAA
 T
T
 7 a0001c0002t0001g0072
a0001c0002t0001g0085
a0002c0001t0004g0038
others(4): Show 
a0001c0002t0001g0072
a0001c0002t0001g0085
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0005g0149
a0002c0001t0009g0116
a0002c0001t0021g0147
 7 HG00558.hp1
HG01884.hp2
HG02630.hp1
others(4): Show 
HG00558.hp1
HG01884.hp2
HG02630.hp1
HG03486.hp2
NA18747.hp2
NA19030.hp2
NA19240.hp2
 intron_variant MODIFIER c.34-12222_34-12215d
others(10): Show 
c.34-12222_34-12215delTTTATTTA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51493528
chr1:51493528 TTAAATAA
others(5): Show 
TTAAATAAATAAA
 T
T
 4 a0001c0002t0001g0113
a0002c0001t0005g0139
a0002c0001t0008g0122
others(1): Show 
a0001c0002t0001g0113
a0002c0001t0005g0139
a0002c0001t0008g0122
a0002c0001t0012g0002
 4 HG03209.hp1
NA18957.hp1
NA19043.hp2
others(1): Show 
HG03209.hp1
NA18957.hp1
NA19043.hp2
NA20805.hp2
 intron_variant MODIFIER c.34-12226_34-12215d
others(14): Show 
c.34-12226_34-12215delTTTATTTATTTA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51493528
chr1:51493528 TTAAATAA
others(9): Show 
TTAAATAAATAAATAAA
 T
T
 1 a0001c0002t0003g0059
a0001c0002t0003g0059
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.34-12230_34-12215d
others(18): Show 
c.34-12230_34-12215delTTTATTTATTTATTTA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51493528
chr1:51493528 TTAAATAA
others(21): Show 
TTAAATAAATAAATAAATAAATAAATAAA
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-12242_34-12215d
others(30): Show 
c.34-12242_34-12215delTTTATTTATTTATTTATTTATTTATTTA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51493528
chr1:51493704 C
C
 T
T
 3 a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0007t0010g0043
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0007t0010g0043
 3 HG02109.hp2
HG02717.hp2
HG03209.hp2
HG02109.hp2
HG02717.hp2
HG03209.hp2
 intron_variant MODIFIER c.34-12390G>A
c.34-12390G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51493704
chr1:51493743 C
C
 T
T
 9 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(6): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
 9 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(6): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.34-12429G>A
c.34-12429G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51493743
chr1:51493804 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-12490C>T
c.34-12490C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51493804
chr1:51493900 C
C
 T
T
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.34-12586G>A
c.34-12586G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51493900
chr1:51494267 C
C
 T
T
 2 a0002c0001t0009g0116
a0002c0001t0022g0115
a0002c0001t0009g0116
a0002c0001t0022g0115
 2 HG06807.hp1
NA19030.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.34-12953G>A
c.34-12953G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51494267
chr1:51494336 G
G
 A
A
 2 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0002g0030
a0001c0002t0002g0031
 2 HG02630.hp2
NA19240.hp1
HG02630.hp2
NA19240.hp1
 intron_variant MODIFIER c.34-13022C>T
c.34-13022C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51494336
chr1:51494382 T
T
 C
C
 73 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(70): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 73 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(70): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.34-13068A>G
c.34-13068A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51494382
chr1:51494649 T
T
 C
C
 1 a0001c0002t0001g0073
a0001c0002t0001g0073
 1 HG03492.hp1
HG03492.hp1
 intron_variant MODIFIER c.34-13335A>G
c.34-13335A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51494649
chr1:51495180 T
T
 C
C
 2 a0001c0002t0001g0079
a0001c0002t0020g0050
a0001c0002t0001g0079
a0001c0002t0020g0050
 2 HG01168.hp2
HG02738.hp1
HG01168.hp2
HG02738.hp1
 intron_variant MODIFIER c.34-13866A>G
c.34-13866A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51495180
chr1:51495315 T
T
 A
A
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.34-14001A>T
c.34-14001A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51495315
chr1:51495317 A
A
 G
G
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.34-14003T>C
c.34-14003T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51495317
chr1:51495340 TA
TA
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-14027delT
c.34-14027delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51495340
chr1:51495353 A
A
 AT
AT
 9 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(6): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0016g0027
 9 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(6): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
NA18522.hp2
NA18906.hp2
NA20805.hp2
 intron_variant MODIFIER c.34-14040dupA
c.34-14040dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51495353
chr1:51495353 A
A
 T
T
 1 a0003c0005t0001g0017
a0003c0005t0001g0017
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.34-14039T>A
c.34-14039T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51495353
chr1:51495497 T
T
 C
C
 1 a0001c0002t0003g0077
a0001c0002t0003g0077
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.34-14183A>G
c.34-14183A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51495497
chr1:51495540 A
A
 C
C
 1 a0001c0002t0017g0032
a0001c0002t0017g0032
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.34-14226T>G
c.34-14226T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51495540
chr1:51495567 T
T
 C
C
 1 a0001c0002t0017g0032
a0001c0002t0017g0032
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.34-14253A>G
c.34-14253A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51495567
chr1:51495680 T
T
 C
C
 1 a0002c0001t0009g0116
a0002c0001t0009g0116
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.34-14366A>G
c.34-14366A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51495680
chr1:51495684 C
C
 CA
CA
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.34-14371dupT
c.34-14371dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51495684
chr1:51495695 C
C
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-14381G>T
c.34-14381G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51495695
chr1:51496161 A
A
 G
G
 3 a0001c0002t0001g0072
a0001c0002t0001g0085
a0001c0002t0018g0105
a0001c0002t0001g0072
a0001c0002t0001g0085
a0001c0002t0018g0105
 3 HG00558.hp1
NA18747.hp2
NA18957.hp2
HG00558.hp1
NA18747.hp2
NA18957.hp2
 intron_variant MODIFIER c.34-14847T>C
c.34-14847T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51496161
chr1:51496412 A
A
 G
G
 1 a0002c0004t0002g0013
a0002c0004t0002g0013
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.34-15098T>C
c.34-15098T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51496412
chr1:51496533 T
T
 C
C
 2 a0001c0002t0001g0079
a0001c0002t0020g0050
a0001c0002t0001g0079
a0001c0002t0020g0050
 2 HG01168.hp2
HG02738.hp1
HG01168.hp2
HG02738.hp1
 intron_variant MODIFIER c.34-15219A>G
c.34-15219A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51496533
chr1:51496610 T
T
 G
G
 1 a0001c0002t0001g0082
a0001c0002t0001g0082
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.34-15296A>C
c.34-15296A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51496610
chr1:51496791 T
T
 G
G
 7 a0002c0001t0005g0138
a0002c0001t0005g0141
a0002c0001t0005g0143
others(4): Show 
a0002c0001t0005g0138
a0002c0001t0005g0141
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
 7 HG01109.hp1
HG01884.hp2
HG01891.hp2
others(4): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp2
HG02615.hp1
HG03139.hp1
HG03486.hp2
NA19030.hp1
 intron_variant MODIFIER c.34-15477A>C
c.34-15477A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51496791
chr1:51496919 G
G
 A
A
 3 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
 3 HG02572.hp1
HG03041.hp1
NA18522.hp2
HG02572.hp1
HG03041.hp1
NA18522.hp2
 intron_variant MODIFIER c.34-15605C>T
c.34-15605C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51496919
chr1:51496952 G
G
 T
T
 1 a0002c0001t0004g0025
a0002c0001t0004g0025
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.34-15638C>A
c.34-15638C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51496952
chr1:51497010 A
A
 T
T
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.34-15696T>A
c.34-15696T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51497010
chr1:51497151 A
A
 G
G
 4 a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
others(1): Show 
a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
 4 HG00639.hp2
HG02647.hp1
HG02818.hp2
others(1): Show 
HG00639.hp2
HG02647.hp1
HG02818.hp2
HG03471.hp1
 intron_variant MODIFIER c.34-15837T>C
c.34-15837T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51497151
chr1:51497266 T
T
 C
C
 1 a0001c0002t0001g0084
a0001c0002t0001g0084
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.34-15952A>G
c.34-15952A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51497266
chr1:51497274 CA
CA
 C
C
 5 a0001c0003t0001g0053
a0001c0003t0001g0081
a0001c0003t0001g0089
others(2): Show 
a0001c0003t0001g0053
a0001c0003t0001g0081
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0003g0054
 5 HG00642.hp2
HG01884.hp1
HG02145.hp2
others(2): Show 
HG00642.hp2
HG01884.hp1
HG02145.hp2
HG02258.hp1
HG03453.hp1
 intron_variant MODIFIER c.34-15961delT
c.34-15961delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51497274
chr1:51497602 T
T
 C
C
 4 a0002c0001t0005g0139
a0002c0001t0005g0142
a0002c0001t0005g0148
others(1): Show 
a0002c0001t0005g0139
a0002c0001t0005g0142
a0002c0001t0005g0148
a0008c0011t0025g0140
 4 HG02257.hp2
HG02486.hp1
HG03209.hp1
others(1): Show 
HG02257.hp2
HG02486.hp1
HG03209.hp1
NA20300.hp1
 intron_variant MODIFIER c.34-16288A>G
c.34-16288A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51497602
chr1:51497618 G
G
 A
A
 4 a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
others(1): Show 
a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
 4 HG00639.hp2
HG02647.hp1
HG02818.hp2
others(1): Show 
HG00639.hp2
HG02647.hp1
HG02818.hp2
HG03471.hp1
 intron_variant MODIFIER c.34-16304C>T
c.34-16304C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51497618
chr1:51497858 T
T
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-16544A>G
c.34-16544A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51497858
chr1:51497866 A
A
 C
C
 1 a0002c0001t0004g0025
a0002c0001t0004g0025
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.34-16552T>G
c.34-16552T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51497866
chr1:51497954 C
C
 A
A
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.34-16640G>T
c.34-16640G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51497954
chr1:51497975 C
C
 CA
CA
 6 a0001c0002t0003g0076
a0001c0003t0001g0102
a0002c0001t0004g0038
others(3): Show 
a0001c0002t0003g0076
a0001c0003t0001g0102
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0010g0041
a0002c0001t0010g0042
 6 HG00733.hp1
HG02630.hp1
HG02647.hp2
others(3): Show 
HG00733.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG03209.hp2
NA19240.hp2
 intron_variant MODIFIER c.34-16662dupT
c.34-16662dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51497975
chr1:51498069 A
A
 T
T
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.34-16755T>A
c.34-16755T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51498069
chr1:51498091 G
G
 A
A
 77 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(74): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 77 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(74): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.34-16777C>T
c.34-16777C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51498091
chr1:51498431 T
T
 C
C
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.34-17117A>G
c.34-17117A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51498431
chr1:51498517 C
C
 CA
CA
 3 a0001c0003t0001g0101
a0001c0003t0001g0103
a0001c0003t0001g0110
a0001c0003t0001g0101
a0001c0003t0001g0103
a0001c0003t0001g0110
 3 HG01167.hp1
HG01952.hp2
HG03834.hp2
HG01167.hp1
HG01952.hp2
HG03834.hp2
 intron_variant MODIFIER c.34-17204dupT
c.34-17204dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51498517
chr1:51498520 T
T
 C
C
 2 a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0014g0036
a0002c0001t0014g0037
 2 HG02451.hp2
HG02976.hp2
HG02451.hp2
HG02976.hp2
 intron_variant MODIFIER c.34-17206A>G
c.34-17206A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51498520
chr1:51498811 T
T
 C
C
 3 a0001c0003t0001g0101
a0001c0003t0001g0103
a0001c0003t0001g0110
a0001c0003t0001g0101
a0001c0003t0001g0103
a0001c0003t0001g0110
 3 HG01167.hp1
HG01952.hp2
HG03834.hp2
HG01167.hp1
HG01952.hp2
HG03834.hp2
 intron_variant MODIFIER c.34-17497A>G
c.34-17497A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51498811
chr1:51499033 C
C
 T
T
 16 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(13): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 16 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(13): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02109.hp2
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG03209.hp2
HG03453.hp2
NA19240.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.34-17719G>A
c.34-17719G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51499033
chr1:51499772 C
C
 G
G
 1 a0002c0004t0002g0004
a0002c0004t0002g0004
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.34-18458G>C
c.34-18458G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51499772
chr1:51499828 A
A
 G
G
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-18514T>C
c.34-18514T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51499828
chr1:51500016 T
T
 G
G
 36 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(33): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
a0004c0015t0011g0152
a0006c0010t0026g0129
a0007c0009t0015g0125
a0009c0012t0007g0136
 36 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(33): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01167.hp2
HG01257.hp2
HG01346.hp1
HG01516.hp1
HG01517.hp1
HG01891.hp1
HG02257.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03486.hp1
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp1
NA19043.hp2
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.34-18702A>C
c.34-18702A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51500016
chr1:51500198 A
A
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.34-18884T>A
c.34-18884T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51500198
chr1:51500437 G
G
 A
A
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.33+18762C>T
c.33+18762C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51500437
chr1:51500464 G
G
 GT
GT
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.33+18734dupA
c.33+18734dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51500464
chr1:51500686 T
T
 TTAAAAGA
others(3): Show 
TTAAAAGAAAA
 1 a0001c0002t0001g0114
a0001c0002t0001g0114
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.33+18503_33+18512d
others(12): Show 
c.33+18503_33+18512dupTTTTCTTTTA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51500686
chr1:51500711 G
G
 A
A
 14 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(11): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 14 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(11): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.33+18488C>T
c.33+18488C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51500711
chr1:51500741 T
T
 C
C
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.33+18458A>G
c.33+18458A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51500741
chr1:51500752 A
A
 G
G
 3 a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
 3 HG02257.hp1
HG03139.hp2
NA19043.hp2
HG02257.hp1
HG03139.hp2
NA19043.hp2
 intron_variant MODIFIER c.33+18447T>C
c.33+18447T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51500752
chr1:51500939 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+18260C>T
c.33+18260C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51500939
chr1:51500983 T
T
 G
G
 7 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
others(4): Show 
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 7 HG02109.hp2
HG02630.hp1
HG02717.hp2
others(4): Show 
HG02109.hp2
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG03209.hp2
HG03453.hp2
NA19240.hp2
 intron_variant MODIFIER c.33+18216A>C
c.33+18216A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51500983
chr1:51500984 CAAAAAAA
others(7): Show 
CAAAAAAAAAAAATA
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+18201_33+18214d
others(16): Show 
c.33+18201_33+18214delTATTTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51500984
chr1:51500997 T
T
 G
G
 2 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0002g0030
a0001c0002t0002g0031
 2 HG02630.hp2
NA19240.hp1
HG02630.hp2
NA19240.hp1
 intron_variant MODIFIER c.33+18202A>C
c.33+18202A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51500997
chr1:51501271 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+17928C>T
c.33+17928C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51501271
chr1:51501333 G
G
 A
A
 5 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(2): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0016g0027
 5 HG02572.hp1
HG03041.hp1
HG03098.hp1
others(2): Show 
HG02572.hp1
HG03041.hp1
HG03098.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.33+17866C>T
c.33+17866C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51501333
chr1:51501345 T
T
 C
C
 1 a0007c0009t0015g0125
a0007c0009t0015g0125
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.33+17854A>G
c.33+17854A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51501345
chr1:51501465 G
G
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+17734C>A
c.33+17734C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51501465
chr1:51501567 C
C
 G
G
 2 a0002c0001t0012g0001
a0002c0001t0012g0003
a0002c0001t0012g0001
a0002c0001t0012g0003
 2 HG02257.hp1
HG03139.hp2
HG02257.hp1
HG03139.hp2
 intron_variant MODIFIER c.33+17632G>C
c.33+17632G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51501567
chr1:51501627 T
T
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+17572A>G
c.33+17572A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51501627
chr1:51501631 A
A
 G
G
 1 a0001c0002t0001g0048
a0001c0002t0001g0048
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.33+17568T>C
c.33+17568T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51501631
chr1:51501636 G
G
 A
A
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.33+17563C>T
c.33+17563C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51501636
chr1:51501730 C
C
 T
T
 1 a0005c0008t0002g0033
a0005c0008t0002g0033
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.33+17469G>A
c.33+17469G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51501730
chr1:51501764 C
C
 T
T
 1 a0009c0012t0007g0136
a0009c0012t0007g0136
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.33+17435G>A
c.33+17435G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51501764
chr1:51502084 AT
AT
 A
A
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.33+17114delA
c.33+17114delA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51502084
chr1:51502134 G
G
 A
A
 1 a0008c0011t0025g0140
a0008c0011t0025g0140
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.33+17065C>T
c.33+17065C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51502134
chr1:51502187 C
C
 T
T
 1 a0001c0002t0020g0050
a0001c0002t0020g0050
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.33+17012G>A
c.33+17012G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51502187
chr1:51502227 T
T
 C
C
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.33+16972A>G
c.33+16972A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51502227
chr1:51502300 T
T
 A
A
 4 a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
others(1): Show 
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 4 HG02109.hp2
HG02717.hp2
HG02818.hp1
others(1): Show 
HG02109.hp2
HG02717.hp2
HG02818.hp1
HG03209.hp2
 intron_variant MODIFIER c.33+16899A>T
c.33+16899A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51502300
chr1:51502342 T
T
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+16857A>T
c.33+16857A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51502342
chr1:51502455 G
G
 A
A
 1 a0001c0002t0001g0064
a0001c0002t0001g0064
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.33+16744C>T
c.33+16744C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51502455
chr1:51502686 C
C
 T
T
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.33+16513G>A
c.33+16513G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51502686
chr1:51502727 G
G
 T
T
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.33+16472C>A
c.33+16472C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51502727
chr1:51503006 C
C
 CA
CA
 7 a0002c0001t0004g0039
a0002c0001t0006g0028
a0002c0001t0006g0029
others(4): Show 
a0002c0001t0004g0039
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0016g0027
a0007c0009t0015g0125
 7 HG02572.hp1
HG02630.hp1
HG03041.hp1
others(4): Show 
HG02572.hp1
HG02630.hp1
HG03041.hp1
HG03098.hp1
HG03486.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.33+16192dupT
c.33+16192dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51503006
chr1:51503006 C
C
 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 1 a0009c0012t0007g0136
a0009c0012t0007g0136
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.33+16181_33+16192d
others(14): Show 
c.33+16181_33+16192dupTTTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51503006
chr1:51503006 C
C
 CAAAAAAA
others(6): Show 
CAAAAAAAAAAAAA
 7 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(4): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 7 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(4): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03195.hp1
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+16180_33+16192d
others(15): Show 
c.33+16180_33+16192dupTTTTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51503006
chr1:51503006 C
C
 CAAAAAAA
others(8): Show 
CAAAAAAAAAAAAAAA
 1 a0002c0001t0011g0130
a0002c0001t0011g0130
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.33+16178_33+16192d
others(17): Show 
c.33+16178_33+16192dupTTTTTTTTTTTTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51503006
chr1:51503037 A
A
 G
G
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.33+16162T>C
c.33+16162T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51503037
chr1:51503174 C
C
 T
T
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.33+16025G>A
c.33+16025G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51503174
chr1:51503263 T
T
 A
A
 1 a0005c0008t0002g0033
a0005c0008t0002g0033
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.33+15936A>T
c.33+15936A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51503263
chr1:51503337 A
A
 G
G
 7 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
others(4): Show 
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 7 HG02109.hp2
HG02630.hp1
HG02717.hp2
others(4): Show 
HG02109.hp2
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG03209.hp2
HG03453.hp2
NA19240.hp2
 intron_variant MODIFIER c.33+15862T>C
c.33+15862T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51503337
chr1:51503664 A
A
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+15535T>G
c.33+15535T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51503664
chr1:51503721 G
G
 T
T
 9 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(6): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0007c0009t0015g0125
 9 HG02257.hp1
HG02572.hp1
HG03041.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.33+15478C>A
c.33+15478C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51503721
chr1:51503745 T
T
 C
C
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+15454A>G
c.33+15454A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51503745
chr1:51503812 A
A
 G
G
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.33+15387T>C
c.33+15387T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51503812
chr1:51504111 A
A
 G
G
 1 a0002c0001t0023g0151
a0002c0001t0023g0151
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.33+15088T>C
c.33+15088T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51504111
chr1:51504152 C
C
 T
T
 23 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(20): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
a0007c0009t0015g0125
 23 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(20): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02257.hp1
HG02486.hp2
HG02572.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03195.hp2
HG03486.hp1
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.33+15047G>A
c.33+15047G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51504152
chr1:51504184 G
G
 A
A
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.33+15015C>T
c.33+15015C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51504184
chr1:51504342 C
C
 T
T
 1 a0001c0002t0002g0030
a0001c0002t0002g0030
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.33+14857G>A
c.33+14857G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51504342
chr1:51504430 T
T
 C
C
 9 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(6): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0007c0009t0015g0125
 9 HG02257.hp1
HG02572.hp1
HG03041.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.33+14769A>G
c.33+14769A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51504430
chr1:51504532 C
C
 CTAGAA
CTAGAA
 5 a0002c0001t0004g0040
a0002c0001t0010g0041
a0002c0001t0010g0042
others(2): Show 
a0002c0001t0004g0040
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 5 HG02109.hp2
HG02717.hp2
HG02818.hp1
others(2): Show 
HG02109.hp2
HG02717.hp2
HG02818.hp1
HG03209.hp2
HG03453.hp2
 intron_variant MODIFIER c.33+14662_33+14666d
others(7): Show 
c.33+14662_33+14666dupTTCTA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51504532
chr1:51504598 GAATAT
GAATAT
 G
G
 5 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(2): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0016g0027
 5 HG02572.hp1
HG03041.hp1
HG03098.hp1
others(2): Show 
HG02572.hp1
HG03041.hp1
HG03098.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.33+14596_33+14600d
others(7): Show 
c.33+14596_33+14600delATATT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51504598
chr1:51504657 G
G
 A
A
 2 a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0001t0023g0151
a0002c0001t0024g0145
 2 HG01175.hp1
HG02258.hp2
HG01175.hp1
HG02258.hp2
 intron_variant MODIFIER c.33+14542C>T
c.33+14542C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51504657
chr1:51504778 C
C
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+14421G>T
c.33+14421G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51504778
chr1:51504786 C
C
 T
T
 14 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(11): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 14 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(11): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.33+14413G>A
c.33+14413G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51504786
chr1:51504787 G
G
 A
A
 1 a0002c0001t0004g0040
a0002c0001t0004g0040
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.33+14412C>T
c.33+14412C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51504787
chr1:51504839 A
A
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+14360T>G
c.33+14360T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51504839
chr1:51504891 C
C
 T
T
 1 a0010c0013t0001g0063
a0010c0013t0001g0063
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.33+14308G>A
c.33+14308G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51504891
chr1:51504977 C
C
 T
T
 9 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(6): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
 9 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(6): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.33+14222G>A
c.33+14222G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51504977
chr1:51505036 G
G
 A
A
 1 a0001c0003t0001g0110
a0001c0003t0001g0110
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.33+14163C>T
c.33+14163C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51505036
chr1:51505077 G
G
 A
A
 1 a0001c0002t0017g0032
a0001c0002t0017g0032
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.33+14122C>T
c.33+14122C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51505077
chr1:51505099 G
G
 T
T
 1 a0002c0001t0006g0034
a0002c0001t0006g0034
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.33+14100C>A
c.33+14100C>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51505099
chr1:51505119 CA
CA
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+14079delT
c.33+14079delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51505119
chr1:51505188 CAGG
CAGG
 C
C
 9 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(6): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0016g0027
a0007c0009t0015g0125
 9 HG02257.hp1
HG02572.hp1
HG03041.hp1
others(6): Show 
HG02257.hp1
HG02572.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.33+14008_33+14010d
others(5): Show 
c.33+14008_33+14010delCCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51505188
chr1:51505283 T
T
 C
C
 1 a0002c0001t0007g0135
a0002c0001t0007g0135
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.33+13916A>G
c.33+13916A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51505283
chr1:51505349 A
A
 C
C
 5 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(2): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0016g0027
 5 HG02572.hp1
HG03041.hp1
HG03098.hp1
others(2): Show 
HG02572.hp1
HG03041.hp1
HG03098.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.33+13850T>G
c.33+13850T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51505349
chr1:51505406 T
T
 C
C
 1 a0007c0009t0015g0125
a0007c0009t0015g0125
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.33+13793A>G
c.33+13793A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51505406
chr1:51505539 T
T
 C
C
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.33+13660A>G
c.33+13660A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51505539
chr1:51505616 C
C
 T
T
 1 a0001c0003t0001g0102
a0001c0003t0001g0102
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.33+13583G>A
c.33+13583G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51505616
chr1:51505709 T
T
 C
C
 4 a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
others(1): Show 
a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
 4 HG00639.hp2
HG02647.hp1
HG02818.hp2
others(1): Show 
HG00639.hp2
HG02647.hp1
HG02818.hp2
HG03471.hp1
 intron_variant MODIFIER c.33+13490A>G
c.33+13490A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51505709
chr1:51505807 A
A
 T
T
 1 a0001c0002t0017g0032
a0001c0002t0017g0032
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.33+13392T>A
c.33+13392T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51505807
chr1:51505826 C
C
 G
G
 2 a0001c0002t0017g0032
a0005c0008t0002g0033
a0001c0002t0017g0032
a0005c0008t0002g0033
 2 HG02717.hp1
HG02976.hp1
HG02717.hp1
HG02976.hp1
 intron_variant MODIFIER c.33+13373G>C
c.33+13373G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51505826
chr1:51505853 G
G
 A
A
 1 a0003c0005t0001g0017
a0003c0005t0001g0017
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.33+13346C>T
c.33+13346C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51505853
chr1:51505871 A
A
 AATTTATT
others(5): Show 
AATTTATTTATTT
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.33+13316_33+13327d
others(14): Show 
c.33+13316_33+13327dupAAATAAATAAAT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51505871
chr1:51505928 C
C
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+13271G>A
c.33+13271G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51505928
chr1:51505979 T
T
 C
C
 1 a0001c0003t0001g0068
a0001c0003t0001g0068
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.33+13220A>G
c.33+13220A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51505979
chr1:51506018 C
C
 G
G
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+13181G>C
c.33+13181G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51506018
chr1:51506185 C
C
 A
A
 5 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
others(2): Show 
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0016g0027
 5 HG02572.hp1
HG03041.hp1
HG03098.hp1
others(2): Show 
HG02572.hp1
HG03041.hp1
HG03098.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.33+13014G>T
c.33+13014G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51506185
chr1:51506379 T
T
 C
C
 2 a0002c0001t0012g0001
a0002c0001t0012g0003
a0002c0001t0012g0001
a0002c0001t0012g0003
 2 HG02257.hp1
HG03139.hp2
HG02257.hp1
HG03139.hp2
 intron_variant MODIFIER c.33+12820A>G
c.33+12820A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51506379
chr1:51506656 A
A
 T
T
 1 a0002c0001t0006g0029
a0002c0001t0006g0029
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.33+12543T>A
c.33+12543T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51506656
chr1:51506670 A
A
 C
C
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.33+12529T>G
c.33+12529T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51506670
chr1:51506749 C
C
 T
T
 1 a0002c0001t0005g0142
a0002c0001t0005g0142
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.33+12450G>A
c.33+12450G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51506749
chr1:51506786 G
G
 GA
GA
 5 a0001c0002t0001g0079
a0001c0002t0003g0106
a0002c0001t0004g0038
others(2): Show 
a0001c0002t0001g0079
a0001c0002t0003g0106
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
 5 HG01168.hp2
HG02630.hp1
HG02723.hp1
others(2): Show 
HG01168.hp2
HG02630.hp1
HG02723.hp1
HG03453.hp2
NA19240.hp2
 intron_variant MODIFIER c.33+12412dupT
c.33+12412dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51506786
chr1:51506812 CAGAATGT
others(13): Show 
CAGAATGTAGAGAACAAACTA
 C
C
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.33+12367_33+12386d
others(22): Show 
c.33+12367_33+12386delTAGTTTGTTCTCTACATTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51506812
chr1:51506978 T
T
 C
C
 14 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(11): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 14 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(11): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.33+12221A>G
c.33+12221A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51506978
chr1:51507012 C
C
 T
T
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.33+12187G>A
c.33+12187G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51507012
chr1:51507779 T
T
 C
C
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.33+11420A>G
c.33+11420A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51507779
chr1:51507894 T
T
 C
C
 2 a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0014g0036
a0002c0001t0014g0037
 2 HG02451.hp2
HG02976.hp2
HG02451.hp2
HG02976.hp2
 intron_variant MODIFIER c.33+11305A>G
c.33+11305A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51507894
chr1:51508186 G
G
 GAGAAA
GAGAAA
 11 a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0072
others(8): Show 
a0001c0002t0001g0047
a0001c0002t0001g0048
a0001c0002t0001g0072
a0001c0002t0001g0073
a0001c0002t0001g0084
a0001c0002t0001g0091
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0020g0050
a0002c0001t0005g0148
a0002c0001t0014g0037
 11 HG00558.hp1
HG01261.hp2
HG02451.hp1
others(8): Show 
HG00558.hp1
HG01261.hp2
HG02451.hp1
HG02451.hp2
HG02738.hp1
HG02818.hp2
HG03471.hp1
HG03492.hp1
HG04228.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.33+11008_33+11012d
others(7): Show 
c.33+11008_33+11012dupTTTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508186
chr1:51508186 G
G
 GAGAAAAG
others(3): Show 
GAGAAAAGAAA
 14 a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0056
others(11): Show 
a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0056
a0001c0002t0001g0080
a0001c0002t0003g0061
a0001c0002t0003g0069
a0001c0002t0003g0070
a0001c0002t0003g0074
a0001c0002t0003g0075
a0001c0002t0003g0076
a0001c0002t0018g0105
a0001c0002t0019g0055
a0002c0001t0005g0139
a0002c0001t0005g0142
 14 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(11): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG02486.hp1
HG02559.hp1
HG02647.hp1
HG02647.hp2
HG03098.hp2
HG03130.hp2
HG03209.hp1
HG04199.hp2
NA18906.hp1
NA18957.hp2
NA20129.hp1
 intron_variant MODIFIER c.33+11003_33+11012d
others(12): Show 
c.33+11003_33+11012dupTTTCTTTTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508186
chr1:51508186 G
G
 GAGAAAAG
others(8): Show 
GAGAAAAGAAAAGAAA
 6 a0001c0002t0001g0085
a0001c0002t0001g0088
a0001c0002t0001g0113
others(3): Show 
a0001c0002t0001g0085
a0001c0002t0001g0088
a0001c0002t0001g0113
a0001c0002t0003g0049
a0001c0002t0013g0062
a0002c0001t0024g0145
 6 HG00741.hp2
HG01175.hp1
HG03041.hp2
others(3): Show 
HG00741.hp2
HG01175.hp1
HG03041.hp2
NA18747.hp2
NA18957.hp1
NA20752.hp1
 intron_variant MODIFIER c.33+10998_33+11012d
others(17): Show 
c.33+10998_33+11012dupTTTCTTTTCTTTTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508186
chr1:51508186 G
G
 GAGAAAAG
others(13): Show 
GAGAAAAGAAAAGAAAAGAAA
 3 a0001c0002t0003g0106
a0002c0001t0005g0146
a0002c0001t0023g0151
a0001c0002t0003g0106
a0002c0001t0005g0146
a0002c0001t0023g0151
 3 HG02055.hp2
HG02258.hp2
HG02723.hp1
HG02055.hp2
HG02258.hp2
HG02723.hp1
 intron_variant MODIFIER c.33+10993_33+11012d
others(22): Show 
c.33+10993_33+11012dupTTTCTTTTCTTTTCTTTTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508186
chr1:51508186 G
G
 GAGAAAAG
others(18): Show 
GAGAAAAGAAAAGAAAAGAAAAGAAA
 1 a0002c0001t0004g0039
a0002c0001t0004g0039
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.33+10988_33+11012d
others(27): Show 
c.33+10988_33+11012dupTTTCTTTTCTTTTCTTTTCTTTTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508186
chr1:51508186 GAGAAA
GAGAAA
 G
G
 13 a0001c0002t0003g0077
a0001c0003t0001g0053
a0001c0003t0001g0068
others(10): Show 
a0001c0002t0003g0077
a0001c0003t0001g0053
a0001c0003t0001g0068
a0001c0003t0001g0081
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0001g0109
a0002c0001t0004g0023
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0004t0002g0009
a0002c0004t0002g0015
 13 HG00642.hp2
HG00738.hp1
HG01074.hp1
others(10): Show 
HG00642.hp2
HG00738.hp1
HG01074.hp1
HG01167.hp2
HG01884.hp1
HG02258.hp1
HG03195.hp2
HG03453.hp1
HG03540.hp1
HG03834.hp1
NA19030.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.33+11008_33+11012d
others(7): Show 
c.33+11008_33+11012delTTTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508186
chr1:51508186 GAGAAAAG
others(3): Show 
GAGAAAAGAAA
 G
G
 19 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(16): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0024
a0002c0001t0004g0124
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0137
 19 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(16): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG02109.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG03209.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA20805.hp1
 intron_variant MODIFIER c.33+11003_33+11012d
others(12): Show 
c.33+11003_33+11012delTTTCTTTTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508186
chr1:51508186 GAGAAAAG
others(8): Show 
GAGAAAAGAAAAGAAA
 G
G
 1 a0002c0001t0004g0040
a0002c0001t0004g0040
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.33+10998_33+11012d
others(17): Show 
c.33+10998_33+11012delTTTCTTTTCTTTTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508186
chr1:51508186 GAGAAAAG
others(13): Show 
GAGAAAAGAAAAGAAAAGAAA
 G
G
 2 a0001c0006t0001g0104
a0002c0001t0004g0025
a0001c0006t0001g0104
a0002c0001t0004g0025
 2 HG01516.hp2
HG02922.hp2
HG01516.hp2
HG02922.hp2
 intron_variant MODIFIER c.33+10993_33+11012d
others(22): Show 
c.33+10993_33+11012delTTTCTTTTCTTTTCTTTTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508186
chr1:51508186 GAGAAAAG
others(18): Show 
GAGAAAAGAAAAGAAAAGAAAAGAAA
 G
G
 1 a0002c0001t0010g0044
a0002c0001t0010g0044
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.33+10988_33+11012d
others(27): Show 
c.33+10988_33+11012delTTTCTTTTCTTTTCTTTTCTTTTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508186
chr1:51508213 GAAAAGAA
others(14): Show 
GAAAAGAAAAGAAAAGAAAAGA
 G
G
 1 a0002c0001t0012g0002
a0002c0001t0012g0002
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.33+10965_33+10985d
others(23): Show 
c.33+10965_33+10985delTCTTTTCTTTTCTTTTCTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508213
chr1:51508216 AAGAAAAG
others(10): Show 
AAGAAAAGAAAAGAAAAG
 A
A
 2 a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0066
a0001c0003t0001g0067
 2 HG00741.hp1
HG01074.hp2
HG00741.hp1
HG01074.hp2
 intron_variant MODIFIER c.33+10966_33+10982d
others(19): Show 
c.33+10966_33+10982delCTTTTCTTTTCTTTTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508216
chr1:51508221 AAGAAAAG
others(5): Show 
AAGAAAAGAAAAG
 A
A
 7 a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
others(4): Show 
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0108
 7 HG00738.hp2
HG01192.hp2
HG01346.hp2
others(4): Show 
HG00738.hp2
HG01192.hp2
HG01346.hp2
HG01515.hp1
HG02735.hp1
HG03540.hp2
HG04204.hp2
 intron_variant MODIFIER c.33+10966_33+10977d
others(14): Show 
c.33+10966_33+10977delCTTTTCTTTTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508221
chr1:51508226 A
A
 AG
AG
 2 a0002c0001t0011g0130
a0009c0012t0007g0136
a0002c0001t0011g0130
a0009c0012t0007g0136
 2 HG03130.hp1
HG03471.hp2
HG03130.hp1
HG03471.hp2
 intron_variant MODIFIER c.33+10972_33+10973i
others(3): Show 
c.33+10972_33+10973insC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508226
chr1:51508226 A
A
 AGAG
AGAG
 2 a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0007g0134
a0002c0001t0007g0135
 2 HG01257.hp2
NA20129.hp2
HG01257.hp2
NA20129.hp2
 intron_variant MODIFIER c.33+10972_33+10973i
others(5): Show 
c.33+10972_33+10973insCTC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508226
chr1:51508228 GAAAAGA
GAAAAGA
 G
G
 2 a0002c0001t0012g0001
a0002c0001t0012g0003
a0002c0001t0012g0001
a0002c0001t0012g0003
 2 HG02257.hp1
HG03139.hp2
HG02257.hp1
HG03139.hp2
 intron_variant MODIFIER c.33+10965_33+10970d
others(8): Show 
c.33+10965_33+10970delTCTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508228
chr1:51508229 A
A
 AAAGAGAG
others(28): Show 
AAAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAG
 1 a0005c0008t0002g0033
a0005c0008t0002g0033
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.33+10969_33+10970i
others(37): Show 
c.33+10969_33+10970insCTCTCTCTCTCTCTCTCTCTCTCTCTTT
CTCTCTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508229
chr1:51508229 A
A
 AG
AG
 2 a0002c0001t0011g0130
a0009c0012t0007g0136
a0002c0001t0011g0130
a0009c0012t0007g0136
 2 HG03130.hp1
HG03471.hp2
HG03130.hp1
HG03471.hp2
 intron_variant MODIFIER c.33+10969_33+10970i
others(3): Show 
c.33+10969_33+10970insC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508229
chr1:51508230 A
A
 G
G
 1 a0001c0006t0001g0112
a0001c0006t0001g0112
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.33+10969T>C
c.33+10969T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508230
chr1:51508231 A
A
 AGAGAGAG
others(8): Show 
AGAGAGAGAGAGAGAG
 1 a0002c0001t0007g0135
a0002c0001t0007g0135
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.33+10967_33+10968i
others(17): Show 
c.33+10967_33+10968insCTCTCTCTCTCTCTC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508231
chr1:51508231 A
A
 G
G
 1 a0009c0012t0007g0136
a0009c0012t0007g0136
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.33+10968T>C
c.33+10968T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508231
chr1:51508232 A
A
 G
G
 1 a0001c0006t0001g0112
a0001c0006t0001g0112
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.33+10967T>C
c.33+10967T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508232
chr1:51508233 G
G
 A
A
 1 a0001c0006t0001g0112
a0001c0006t0001g0112
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.33+10966C>T
c.33+10966C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508233
chr1:51508234 A
A
 AAAAGAAA
others(41): Show 
AAAAGAAAAGAAAAGAAAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAG
 1 a0001c0002t0017g0032
a0001c0002t0017g0032
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.33+10964_33+10965i
others(50): Show 
c.33+10964_33+10965insCTCTCTCTCTCTCTCTCTCTCTCTTTCT
CTCTTTCTTTTCTTTTCTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508234
chr1:51508234 A
A
 AG
AG
 4 a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
others(1): Show 
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0009c0012t0007g0136
 4 HG01257.hp2
HG03130.hp1
HG03471.hp2
others(1): Show 
HG01257.hp2
HG03130.hp1
HG03471.hp2
NA20129.hp2
 intron_variant MODIFIER c.33+10964_33+10965i
others(3): Show 
c.33+10964_33+10965insC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508234
chr1:51508234 A
A
 G
G
 12 a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0093
others(9): Show 
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0103
a0001c0003t0001g0107
a0001c0003t0001g0108
a0002c0001t0007g0133
 12 HG00642.hp1
HG00738.hp2
HG00741.hp1
others(9): Show 
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp2
HG01192.hp2
HG01346.hp2
HG01515.hp1
HG02735.hp1
HG03540.hp2
HG03834.hp2
HG04115.hp1
HG04204.hp2
 intron_variant MODIFIER c.33+10965T>C
c.33+10965T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508234
chr1:51508236 A
A
 AG
AG
 3 a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
 3 HG01168.hp1
HG01261.hp1
HG01952.hp2
HG01168.hp1
HG01261.hp1
HG01952.hp2
 intron_variant MODIFIER c.33+10962_33+10963i
others(3): Show 
c.33+10962_33+10963insC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508236
chr1:51508236 A
A
 AGAG
AGAG
 5 a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
others(2): Show 
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0005c0008t0002g0033
a0007c0009t0015g0125
 5 HG02559.hp2
HG02976.hp1
HG03195.hp1
others(2): Show 
HG02559.hp2
HG02976.hp1
HG03195.hp1
HG03486.hp1
NA19043.hp1
 intron_variant MODIFIER c.33+10962_33+10963i
others(5): Show 
c.33+10962_33+10963insCTC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508236
chr1:51508236 A
A
 G
G
 16 a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0093
others(13): Show 
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0103
a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0006t0001g0112
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0011g0130
a0009c0012t0007g0136
 16 HG00642.hp1
HG00738.hp2
HG00741.hp1
others(13): Show 
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp2
HG01192.hp2
HG01346.hp2
HG01515.hp1
HG02615.hp2
HG02735.hp1
HG03130.hp1
HG03471.hp2
HG03540.hp2
HG03834.hp2
HG04115.hp1
HG04204.hp2
NA20129.hp2
 intron_variant MODIFIER c.33+10963T>C
c.33+10963T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508236
chr1:51508238 G
G
 GA
GA
 3 a0001c0002t0001g0079
a0001c0002t0001g0128
a0002c0001t0005g0143
a0001c0002t0001g0079
a0001c0002t0001g0128
a0002c0001t0005g0143
 3 HG01109.hp1
HG01168.hp2
NA19011.hp2
HG01109.hp1
HG01168.hp2
NA19011.hp2
 intron_variant MODIFIER c.33+10960dupT
c.33+10960dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508238
chr1:51508238 G
G
 GAAAAGA
GAAAAGA
 2 a0002c0001t0005g0141
a0002c0001t0005g0150
a0002c0001t0005g0141
a0002c0001t0005g0150
 2 HG01891.hp2
HG03139.hp1
HG01891.hp2
HG03139.hp1
 intron_variant MODIFIER c.33+10960_33+10961i
others(8): Show 
c.33+10960_33+10961insTCTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508238
chr1:51508238 G
G
 GAAAAGAA
others(4): Show 
GAAAAGAAAAGA
 2 a0002c0001t0005g0149
a0002c0001t0021g0147
a0002c0001t0005g0149
a0002c0001t0021g0147
 2 HG01884.hp2
HG03486.hp2
HG01884.hp2
HG03486.hp2
 intron_variant MODIFIER c.33+10960_33+10961i
others(13): Show 
c.33+10960_33+10961insTCTTTTCTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508238
chr1:51508238 G
G
 GAAAAGAA
others(9): Show 
GAAAAGAAAAGAAAAGA
 1 a0001c0002t0013g0065
a0001c0002t0013g0065
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.33+10960_33+10961i
others(18): Show 
c.33+10960_33+10961insTCTTTTCTTTTCTTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508238
chr1:51508240 A
A
 AAAG
AAAG
 5 a0001c0002t0001g0078
a0001c0002t0001g0086
a0001c0002t0001g0087
others(2): Show 
a0001c0002t0001g0078
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0114
a0003c0005t0001g0017
 5 HG03654.hp2
HG03688.hp1
HG04204.hp1
others(2): Show 
HG03654.hp2
HG03688.hp1
HG04204.hp1
HG04228.hp1
NA20752.hp2
 intron_variant MODIFIER c.33+10958_33+10959i
others(5): Show 
c.33+10958_33+10959insCTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508240
chr1:51508240 A
A
 AAAGAAAA
others(1): Show 
AAAGAAAAG
 2 a0001c0002t0001g0064
a0010c0013t0001g0063
a0001c0002t0001g0064
a0010c0013t0001g0063
 2 HG01175.hp2
HG02970.hp1
HG01175.hp2
HG02970.hp1
 intron_variant MODIFIER c.33+10958_33+10959i
others(10): Show 
c.33+10958_33+10959insCTTTTCTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508240
chr1:51508240 A
A
 AAAGAAAA
others(6): Show 
AAAGAAAAGAAAAG
 2 a0001c0002t0001g0045
a0002c0001t0004g0038
a0001c0002t0001g0045
a0002c0001t0004g0038
 2 HG02572.hp2
NA19240.hp2
HG02572.hp2
NA19240.hp2
 intron_variant MODIFIER c.33+10958_33+10959i
others(15): Show 
c.33+10958_33+10959insCTTTTCTTTTCTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508240
chr1:51508240 A
A
 AAAGAAAA
others(13): Show 
AAAGAAAAGAAAAGAAGAGAG
 1 a0001c0002t0001g0111
a0001c0002t0001g0111
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.33+10958_33+10959i
others(22): Show 
c.33+10958_33+10959insCTCTCTTCTTTTCTTTTCTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508240
chr1:51508240 A
A
 G
G
 13 a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
others(10): Show 
a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
a0001c0006t0001g0112
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0134
a0002c0001t0011g0130
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0009c0012t0007g0136
 13 HG01168.hp1
HG01261.hp1
HG01952.hp2
others(10): Show 
HG01168.hp1
HG01261.hp1
HG01952.hp2
HG02257.hp1
HG02615.hp2
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03471.hp2
NA18906.hp2
NA19043.hp2
NA20129.hp2
 intron_variant MODIFIER c.33+10959T>C
c.33+10959T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508240
chr1:51508241 A
A
 AAGAAAAG
AAGAAAAG
 2 a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0118
a0002c0001t0009g0119
 2 HG03491.hp1
HG03492.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.33+10957_33+10958i
others(9): Show 
c.33+10957_33+10958insCTTTTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508241
chr1:51508241 A
A
 AAGAAAAG
others(5): Show 
AAGAAAAGAAAAG
 2 a0002c0001t0009g0117
a0002c0001t0022g0115
a0002c0001t0009g0117
a0002c0001t0022g0115
 2 HG00735.hp2
HG06807.hp1
HG00735.hp2
HG06807.hp1
 intron_variant MODIFIER c.33+10957_33+10958i
others(14): Show 
c.33+10957_33+10958insCTTTTCTTTTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508241
chr1:51508241 AG
AG
 A
A
 2 a0001c0002t0001g0082
a0001c0002t0001g0092
a0001c0002t0001g0082
a0001c0002t0001g0092
 2 HG00438.hp2
HG03491.hp2
HG00438.hp2
HG03491.hp2
 intron_variant MODIFIER c.33+10957delC
c.33+10957delC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508241
chr1:51508242 G
G
 A
A
 18 a0001c0002t0001g0045
a0001c0002t0001g0051
a0001c0002t0001g0064
others(15): Show 
a0001c0002t0001g0045
a0001c0002t0001g0051
a0001c0002t0001g0064
a0001c0002t0001g0078
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0114
a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
a0002c0001t0004g0038
a0002c0001t0005g0144
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
a0003c0005t0001g0017
a0010c0013t0001g0063
 18 HG00735.hp2
HG01168.hp1
HG01175.hp2
others(15): Show 
HG00735.hp2
HG01168.hp1
HG01175.hp2
HG01261.hp1
HG01952.hp2
HG02572.hp2
HG02615.hp1
HG02970.hp1
HG03491.hp1
HG03492.hp2
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.33+10957C>T
c.33+10957C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508242
chr1:51508244 G
G
 A
A
 14 a0001c0002t0001g0051
a0001c0002t0001g0079
a0001c0002t0001g0128
others(11): Show 
a0001c0002t0001g0051
a0001c0002t0001g0079
a0001c0002t0001g0128
a0001c0002t0013g0065
a0002c0001t0005g0150
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0022g0115
a0009c0012t0007g0136
 14 HG00735.hp2
HG01168.hp2
HG01891.hp2
others(11): Show 
HG00735.hp2
HG01168.hp2
HG01891.hp2
HG01952.hp1
HG02257.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp2
HG03491.hp1
HG03492.hp2
HG03688.hp2
HG06807.hp1
NA19011.hp2
NA19043.hp2
 intron_variant MODIFIER c.33+10955C>T
c.33+10955C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508244
chr1:51508246 G
G
 A
A
 4 a0001c0002t0001g0092
a0002c0001t0005g0144
a0002c0001t0006g0034
others(1): Show 
a0001c0002t0001g0092
a0002c0001t0005g0144
a0002c0001t0006g0034
a0002c0001t0006g0035
 4 HG00438.hp2
HG02615.hp1
HG03098.hp1
others(1): Show 
HG00438.hp2
HG02615.hp1
HG03098.hp1
NA18906.hp2
 intron_variant MODIFIER c.33+10953C>T
c.33+10953C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508246
chr1:51508246 GAA
GAA
 G
G
 11 a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0093
others(8): Show 
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0103
a0001c0003t0001g0107
a0001c0003t0001g0108
 11 HG00738.hp2
HG00741.hp1
HG01074.hp2
others(8): Show 
HG00738.hp2
HG00741.hp1
HG01074.hp2
HG01192.hp2
HG01346.hp2
HG01515.hp1
HG02735.hp1
HG03540.hp2
HG03834.hp2
HG04115.hp1
HG04204.hp2
 intron_variant MODIFIER c.33+10951_33+10952d
others(4): Show 
c.33+10951_33+10952delTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508246
chr1:51508248 A
A
 AAG
AAG
 3 a0001c0002t0001g0056
a0001c0002t0003g0069
a0001c0002t0003g0070
a0001c0002t0001g0056
a0001c0002t0003g0069
a0001c0002t0003g0070
 3 HG03130.hp2
HG04199.hp2
NA18906.hp1
HG03130.hp2
HG04199.hp2
NA18906.hp1
 intron_variant MODIFIER c.33+10949_33+10950d
others(4): Show 
c.33+10949_33+10950dupCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508248
chr1:51508248 A
A
 G
G
 32 a0001c0002t0001g0045
a0001c0002t0001g0064
a0001c0002t0001g0078
others(29): Show 
a0001c0002t0001g0045
a0001c0002t0001g0064
a0001c0002t0001g0078
a0001c0002t0001g0079
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0092
a0001c0002t0001g0111
a0001c0002t0001g0114
a0001c0002t0001g0128
a0001c0002t0013g0065
a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
a0001c0006t0001g0112
a0002c0001t0004g0038
a0002c0001t0005g0150
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0009g0116
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0003c0005t0001g0017
a0004c0015t0011g0152
a0007c0009t0015g0125
a0010c0013t0001g0063
 32 HG00438.hp2
HG00642.hp1
HG01168.hp1
others(29): Show 
HG00438.hp2
HG00642.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01261.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG02257.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp2
HG03195.hp1
HG03471.hp2
HG03486.hp1
HG03654.hp2
HG03688.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18906.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.33+10951T>C
c.33+10951T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508248
chr1:51508248 AAG
AAG
 A
A
 27 a0001c0002t0001g0127
a0001c0002t0003g0077
a0001c0003t0001g0053
others(24): Show 
a0001c0002t0001g0127
a0001c0002t0003g0077
a0001c0003t0001g0053
a0001c0003t0001g0068
a0001c0003t0001g0081
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0001g0102
a0001c0003t0001g0109
a0001c0003t0001g0110
a0001c0003t0003g0054
a0001c0006t0001g0104
a0002c0001t0004g0039
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 27 HG00438.hp1
HG00642.hp2
HG00733.hp1
others(24): Show 
HG00438.hp1
HG00642.hp2
HG00733.hp1
HG01074.hp1
HG01167.hp1
HG01167.hp2
HG01346.hp1
HG01516.hp2
HG01884.hp1
HG01891.hp1
HG02145.hp2
HG02258.hp1
HG02486.hp2
HG02630.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03453.hp1
HG03540.hp1
HG03654.hp1
HG03834.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.33+10949_33+10950d
others(4): Show 
c.33+10949_33+10950delCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508248
chr1:51508250 G
G
 A
A
 9 a0001c0002t0001g0045
a0001c0002t0001g0064
a0001c0002t0001g0078
others(6): Show 
a0001c0002t0001g0045
a0001c0002t0001g0064
a0001c0002t0001g0078
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0114
a0002c0001t0004g0038
a0003c0005t0001g0017
a0010c0013t0001g0063
 9 HG01175.hp2
HG02572.hp2
HG02970.hp1
others(6): Show 
HG01175.hp2
HG02572.hp2
HG02970.hp1
HG03654.hp2
HG03688.hp1
HG04204.hp1
HG04228.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.33+10949C>T
c.33+10949C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508250
chr1:51508252 G
G
 A
A
 5 a0001c0002t0001g0079
a0001c0002t0001g0082
a0001c0002t0001g0128
others(2): Show 
a0001c0002t0001g0079
a0001c0002t0001g0082
a0001c0002t0001g0128
a0001c0002t0013g0065
a0002c0001t0005g0150
 5 HG01168.hp2
HG01891.hp2
HG01952.hp1
others(2): Show 
HG01168.hp2
HG01891.hp2
HG01952.hp1
HG03491.hp2
NA19011.hp2
 intron_variant MODIFIER c.33+10947C>T
c.33+10947C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508252
chr1:51508254 G
G
 A
A
 4 a0001c0002t0001g0092
a0002c0001t0005g0144
a0002c0001t0007g0134
others(1): Show 
a0001c0002t0001g0092
a0002c0001t0005g0144
a0002c0001t0007g0134
a0002c0001t0011g0130
 4 HG00438.hp2
HG02615.hp1
HG03471.hp2
others(1): Show 
HG00438.hp2
HG02615.hp1
HG03471.hp2
NA20129.hp2
 intron_variant MODIFIER c.33+10945C>T
c.33+10945C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508254
chr1:51508254 G
G
 GAA
GAA
 3 a0001c0002t0017g0032
a0002c0001t0007g0135
a0009c0012t0007g0136
a0001c0002t0017g0032
a0002c0001t0007g0135
a0009c0012t0007g0136
 3 HG01257.hp2
HG02717.hp1
HG03130.hp1
HG01257.hp2
HG02717.hp1
HG03130.hp1
 intron_variant MODIFIER c.33+10944_33+10945i
others(4): Show 
c.33+10944_33+10945insTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508254
chr1:51508256 G
G
 A
A
 2 a0001c0002t0001g0051
a0003c0005t0001g0057
a0001c0002t0001g0051
a0003c0005t0001g0057
 2 HG01257.hp1
HG03688.hp2
HG01257.hp1
HG03688.hp2
 intron_variant MODIFIER c.33+10943C>T
c.33+10943C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508256
chr1:51508258 G
G
 A
A
 2 a0001c0006t0001g0112
a0002c0001t0011g0130
a0001c0006t0001g0112
a0002c0001t0011g0130
 2 HG02615.hp2
HG03471.hp2
HG02615.hp2
HG03471.hp2
 intron_variant MODIFIER c.33+10941C>T
c.33+10941C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508258
chr1:51508260 G
G
 A
A
 1 a0001c0002t0001g0082
a0001c0002t0001g0082
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.33+10939C>T
c.33+10939C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508260
chr1:51508262 G
G
 A
A
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0009g0116
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0009g0116
a0009c0012t0007g0136
 4 HG00642.hp1
HG03130.hp1
NA19030.hp2
others(1): Show 
HG00642.hp1
HG03130.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.33+10937C>T
c.33+10937C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508262
chr1:51508262 G
G
 GAA
GAA
 3 a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
 3 HG02559.hp2
HG03195.hp1
NA19043.hp1
HG02559.hp2
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.33+10936_33+10937i
others(4): Show 
c.33+10936_33+10937insTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508262
chr1:51508266 G
G
 A
A
 22 a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0093
others(19): Show 
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
a0001c0003t0001g0103
a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0006t0001g0112
a0002c0001t0007g0133
a0002c0001t0009g0116
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0007c0009t0015g0125
 22 HG00642.hp1
HG00738.hp2
HG00741.hp1
others(19): Show 
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp2
HG01168.hp1
HG01192.hp2
HG01261.hp1
HG01346.hp2
HG01515.hp1
HG01952.hp2
HG02559.hp2
HG02615.hp2
HG02735.hp1
HG03195.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp2
HG03834.hp2
HG04115.hp1
HG04204.hp2
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.33+10933C>T
c.33+10933C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508266
chr1:51508266 G
G
 GAAAGAA
GAAAGAA
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.33+10932_33+10933i
others(8): Show 
c.33+10932_33+10933insTTCTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508266
chr1:51508266 G
G
 GAGAGAGA
others(1): Show 
GAGAGAGAA
 2 a0001c0002t0001g0080
a0001c0002t0001g0088
a0001c0002t0001g0080
a0001c0002t0001g0088
 2 HG00639.hp1
NA20752.hp1
HG00639.hp1
NA20752.hp1
 intron_variant MODIFIER c.33+10925_33+10932d
others(10): Show 
c.33+10925_33+10932dupTTCTCTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508266
chr1:51508270 G
G
 A
A
 27 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0005g0148
others(24): Show 
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0005g0148
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0022g0115
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
a0008c0011t0025g0140
 27 HG00738.hp1
HG01167.hp2
HG01346.hp1
others(24): Show 
HG00738.hp1
HG01167.hp2
HG01346.hp1
HG01516.hp1
HG01517.hp1
HG01891.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02630.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG02976.hp2
HG03139.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA19043.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.33+10929C>T
c.33+10929C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508270
chr1:51508270 G
G
 GAA
GAA
 18 a0001c0002t0002g0030
a0001c0002t0002g0031
a0002c0001t0004g0018
others(15): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0010g0044
a0002c0001t0023g0151
a0002c0007t0010g0043
a0005c0008t0002g0033
a0006c0010t0026g0129
 18 HG00733.hp2
HG00735.hp1
HG01109.hp2
others(15): Show 
HG00733.hp2
HG00735.hp1
HG01109.hp2
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02109.hp2
HG02258.hp2
HG02572.hp1
HG02630.hp2
HG02818.hp1
HG02922.hp2
HG02976.hp1
NA18522.hp2
NA19240.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.33+10928_33+10929i
others(4): Show 
c.33+10928_33+10929insTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508270
chr1:51508270 G
G
 GAGAA
GAGAA
 7 a0002c0001t0005g0139
a0002c0001t0005g0142
a0002c0001t0005g0146
others(4): Show 
a0002c0001t0005g0139
a0002c0001t0005g0142
a0002c0001t0005g0146
a0002c0001t0005g0149
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0024g0145
 7 HG01175.hp1
HG01884.hp2
HG02055.hp2
others(4): Show 
HG01175.hp1
HG01884.hp2
HG02055.hp2
HG02451.hp2
HG02486.hp1
HG03209.hp1
HG03486.hp2
 intron_variant MODIFIER c.33+10925_33+10928d
others(6): Show 
c.33+10925_33+10928dupTTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508270
chr1:51508272 GAA
GAA
 G
G
 2 a0002c0001t0016g0027
a0003c0005t0001g0057
a0002c0001t0016g0027
a0003c0005t0001g0057
 2 HG01257.hp1
HG03041.hp1
HG01257.hp1
HG03041.hp1
 intron_variant MODIFIER c.33+10925_33+10926d
others(4): Show 
c.33+10925_33+10926delTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508272
chr1:51508274 A
A
 G
G
 7 a0001c0002t0001g0051
a0001c0002t0001g0082
a0001c0002t0017g0032
others(4): Show 
a0001c0002t0001g0051
a0001c0002t0001g0082
a0001c0002t0017g0032
a0002c0001t0005g0144
a0002c0001t0005g0150
a0002c0001t0007g0134
a0009c0012t0007g0136
 7 HG01891.hp2
HG02615.hp1
HG02717.hp1
others(4): Show 
HG01891.hp2
HG02615.hp1
HG02717.hp1
HG03130.hp1
HG03491.hp2
HG03688.hp2
NA20129.hp2
 intron_variant MODIFIER c.33+10925T>C
c.33+10925T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508274
chr1:51508274 AAGAG
AAGAG
 A
A
 5 a0002c0001t0005g0138
a0002c0001t0005g0141
a0002c0001t0005g0143
others(2): Show 
a0002c0001t0005g0138
a0002c0001t0005g0141
a0002c0001t0005g0143
a0002c0001t0010g0041
a0002c0001t0010g0042
 5 HG01109.hp1
HG02717.hp2
HG03139.hp1
others(2): Show 
HG01109.hp1
HG02717.hp2
HG03139.hp1
HG03209.hp2
NA19030.hp1
 intron_variant MODIFIER c.33+10921_33+10924d
others(6): Show 
c.33+10921_33+10924delCTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508274
chr1:51508278 G
G
 A
A
 5 a0001c0002t0017g0032
a0002c0001t0004g0040
a0002c0001t0005g0144
others(2): Show 
a0001c0002t0017g0032
a0002c0001t0004g0040
a0002c0001t0005g0144
a0002c0001t0005g0150
a0002c0001t0016g0027
 5 HG01891.hp2
HG02615.hp1
HG02717.hp1
others(2): Show 
HG01891.hp2
HG02615.hp1
HG02717.hp1
HG03041.hp1
HG03453.hp2
 intron_variant MODIFIER c.33+10921C>T
c.33+10921C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508278
chr1:51508278 GAGAA
GAGAA
 G
G
 2 a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0126
a0001c0002t0001g0127
 2 HG00438.hp1
NA18747.hp1
HG00438.hp1
NA18747.hp1
 intron_variant MODIFIER c.33+10917_33+10920d
others(6): Show 
c.33+10917_33+10920delTTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508278
chr1:51508282 A
A
 G
G
 1 a0001c0006t0001g0112
a0001c0006t0001g0112
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.33+10917T>C
c.33+10917T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508282
chr1:51508288 G
G
 A
A
 1 a0001c0006t0001g0112
a0001c0006t0001g0112
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.33+10911C>T
c.33+10911C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508288
chr1:51508288 GAA
GAA
 G
G
 2 a0002c0001t0007g0133
a0002c0001t0009g0116
a0002c0001t0007g0133
a0002c0001t0009g0116
 2 HG00642.hp1
NA19030.hp2
HG00642.hp1
NA19030.hp2
 intron_variant MODIFIER c.33+10909_33+10910d
others(4): Show 
c.33+10909_33+10910delTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508288
chr1:51508290 A
A
 G
G
 28 a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0003t0001g0066
others(25): Show 
a0001c0002t0001g0091
a0001c0002t0001g0092
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0068
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
a0001c0003t0001g0103
a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0006t0001g0104
a0001c0006t0001g0112
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0014g0036
a0002c0001t0014g0037
a0004c0015t0011g0152
a0007c0009t0015g0125
 28 HG00438.hp2
HG00735.hp2
HG00738.hp2
others(25): Show 
HG00438.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01074.hp2
HG01168.hp1
HG01192.hp2
HG01261.hp1
HG01346.hp2
HG01515.hp1
HG01516.hp2
HG01952.hp2
HG02451.hp2
HG02559.hp2
HG02615.hp2
HG02735.hp1
HG02976.hp2
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03834.hp1
HG03834.hp2
HG04115.hp1
HG04204.hp2
HG04228.hp2
NA19043.hp1
 intron_variant MODIFIER c.33+10909T>C
c.33+10909T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508290
chr1:51508292 G
G
 GAAAGAGA
others(3): Show 
GAAAGAGAGAA
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.33+10906_33+10907i
others(12): Show 
c.33+10906_33+10907insTTCTCTCTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508292
chr1:51508296 G
G
 A
A
 21 a0001c0002t0001g0092
a0001c0003t0001g0066
a0001c0003t0001g0067
others(18): Show 
a0001c0002t0001g0092
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
a0001c0003t0001g0103
a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0006t0001g0104
a0001c0006t0001g0112
a0002c0001t0004g0040
a0002c0001t0007g0135
a0002c0001t0009g0116
a0007c0009t0015g0125
 21 HG00438.hp2
HG00738.hp2
HG00741.hp1
others(18): Show 
HG00438.hp2
HG00738.hp2
HG00741.hp1
HG01074.hp2
HG01168.hp1
HG01192.hp2
HG01257.hp2
HG01261.hp1
HG01346.hp2
HG01515.hp1
HG01516.hp2
HG01952.hp2
HG02615.hp2
HG02735.hp1
HG03453.hp2
HG03486.hp1
HG03540.hp2
HG03834.hp2
HG04115.hp1
HG04204.hp2
NA19030.hp2
 intron_variant MODIFIER c.33+10903C>T
c.33+10903C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508296
chr1:51508296 G
G
 GAA
GAA
 4 a0001c0002t0001g0111
a0002c0001t0011g0131
a0002c0001t0011g0132
others(1): Show 
a0001c0002t0001g0111
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
 4 HG02559.hp2
HG03195.hp1
HG04115.hp2
others(1): Show 
HG02559.hp2
HG03195.hp1
HG04115.hp2
NA19043.hp1
 intron_variant MODIFIER c.33+10902_33+10903i
others(4): Show 
c.33+10902_33+10903insTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508296
chr1:51508298 G
G
 A
A
 14 a0001c0002t0001g0051
a0001c0002t0017g0032
a0002c0001t0005g0138
others(11): Show 
a0001c0002t0001g0051
a0001c0002t0017g0032
a0002c0001t0005g0138
a0002c0001t0005g0141
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0150
a0002c0001t0007g0134
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0011g0130
a0002c0001t0016g0027
a0003c0005t0001g0057
a0009c0012t0007g0136
 14 HG01109.hp1
HG01257.hp1
HG01891.hp2
others(11): Show 
HG01109.hp1
HG01257.hp1
HG01891.hp2
HG02615.hp1
HG02717.hp1
HG02717.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp2
HG03471.hp2
HG03688.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+10901C>T
c.33+10901C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508298
chr1:51508300 G
G
 A
A
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.33+10899C>T
c.33+10899C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508300
chr1:51508304 A
A
 G
G
 12 a0001c0002t0001g0051
a0001c0002t0017g0032
a0002c0001t0005g0138
others(9): Show 
a0001c0002t0001g0051
a0001c0002t0017g0032
a0002c0001t0005g0138
a0002c0001t0005g0141
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0150
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0011g0130
a0002c0001t0016g0027
a0003c0005t0001g0057
 12 HG01109.hp1
HG01257.hp1
HG01891.hp2
others(9): Show 
HG01109.hp1
HG01257.hp1
HG01891.hp2
HG02615.hp1
HG02717.hp1
HG02717.hp2
HG03041.hp1
HG03139.hp1
HG03209.hp2
HG03471.hp2
HG03688.hp2
NA19030.hp1
 intron_variant MODIFIER c.33+10895T>C
c.33+10895T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508304
chr1:51508306 G
G
 A
A
 1 a0002c0001t0011g0130
a0002c0001t0011g0130
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.33+10893C>T
c.33+10893C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508306
chr1:51508308 G
G
 A
A
 1 a0002c0001t0007g0135
a0002c0001t0007g0135
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.33+10891C>T
c.33+10891C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508308
chr1:51508308 G
G
 GAGAA
GAGAA
 3 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
 3 HG01516.hp1
HG01517.hp1
NA20805.hp2
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.33+10887_33+10890d
others(6): Show 
c.33+10887_33+10890dupTTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508308
chr1:51508312 AAGAG
AAGAG
 A
A
 3 a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0009g0116
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0009g0116
 3 HG03098.hp1
NA18906.hp2
NA19030.hp2
HG03098.hp1
NA18906.hp2
NA19030.hp2
 intron_variant MODIFIER c.33+10883_33+10886d
others(6): Show 
c.33+10883_33+10886delCTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508312
chr1:51508314 G
G
 GAAAGAGA
others(3): Show 
GAAAGAGAGAA
 1 a0002c0001t0008g0123
a0002c0001t0008g0123
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.33+10884_33+10885i
others(12): Show 
c.33+10884_33+10885insTTCTCTCTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508314
chr1:51508316 G
G
 A
A
 3 a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 3 HG01257.hp2
HG03130.hp1
NA20129.hp2
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+10883C>T
c.33+10883C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508316
chr1:51508316 G
G
 GAAAGAGA
others(3): Show 
GAAAGAGAGAA
 3 a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
 3 HG02559.hp2
HG03195.hp1
NA19043.hp1
HG02559.hp2
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.33+10882_33+10883i
others(12): Show 
c.33+10882_33+10883insTTCTCTCTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508316
chr1:51508322 G
G
 GAGAA
GAGAA
 3 a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0006t0001g0104
a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0006t0001g0104
 3 HG01346.hp2
HG01516.hp2
HG04115.hp1
HG01346.hp2
HG01516.hp2
HG04115.hp1
 intron_variant MODIFIER c.33+10876_33+10877i
others(6): Show 
c.33+10876_33+10877insTTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508322
chr1:51508324 G
G
 A
A
 8 a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
others(5): Show 
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0022g0115
a0004c0015t0011g0152
a0009c0012t0007g0136
 8 HG01257.hp2
HG02559.hp2
HG03130.hp1
others(5): Show 
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
HG06807.hp1
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+10875C>T
c.33+10875C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508324
chr1:51508324 G
G
 GAAAGAGA
others(7): Show 
GAAAGAGAGAAAGAA
 1 a0006c0010t0026g0129
a0006c0010t0026g0129
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.33+10874_33+10875i
others(16): Show 
c.33+10874_33+10875insTTCTTTCTCTCTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508324
chr1:51508325 A
A
 AG
AG
 2 a0002c0001t0007g0134
a0009c0012t0007g0136
a0002c0001t0007g0134
a0009c0012t0007g0136
 2 HG03130.hp1
NA20129.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+10873dupC
c.33+10873dupC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508325
chr1:51508326 G
G
 A
A
 23 a0001c0002t0001g0092
a0001c0003t0001g0053
a0001c0003t0001g0066
others(20): Show 
a0001c0002t0001g0092
a0001c0003t0001g0053
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0081
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
a0001c0003t0003g0054
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0007g0133
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
 23 HG00438.hp2
HG00642.hp1
HG00642.hp2
others(20): Show 
HG00438.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01074.hp2
HG01168.hp1
HG01192.hp2
HG01261.hp1
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp1
HG01952.hp2
HG02145.hp2
HG02258.hp1
HG02572.hp1
HG02735.hp1
HG03453.hp1
HG03540.hp2
HG04204.hp2
NA18522.hp2
NA20805.hp2
 intron_variant MODIFIER c.33+10873C>T
c.33+10873C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508326
chr1:51508328 A
A
 G
G
 28 a0001c0002t0001g0092
a0001c0003t0001g0053
a0001c0003t0001g0066
others(25): Show 
a0001c0002t0001g0092
a0001c0003t0001g0053
a0001c0003t0001g0066
a0001c0003t0001g0067
a0001c0003t0001g0081
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0003t0003g0054
a0001c0006t0001g0104
a0002c0001t0005g0149
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0007g0133
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0022g0115
 28 HG00438.hp2
HG00642.hp1
HG00642.hp2
others(25): Show 
HG00438.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01074.hp2
HG01168.hp1
HG01192.hp2
HG01261.hp1
HG01346.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01952.hp2
HG02145.hp2
HG02258.hp1
HG02572.hp1
HG02735.hp1
HG03453.hp1
HG03486.hp2
HG03540.hp2
HG04115.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA20805.hp2
 intron_variant MODIFIER c.33+10871T>C
c.33+10871T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508328
chr1:51508330 G
G
 A
A
 4 a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0006t0001g0104
others(1): Show 
a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0006t0001g0104
a0002c0001t0005g0149
 4 HG01346.hp2
HG01516.hp2
HG03486.hp2
others(1): Show 
HG01346.hp2
HG01516.hp2
HG03486.hp2
HG04115.hp1
 intron_variant MODIFIER c.33+10869C>T
c.33+10869C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508330
chr1:51508330 G
G
 GAA
GAA
 6 a0001c0002t0001g0111
a0001c0006t0001g0112
a0002c0001t0007g0134
others(3): Show 
a0001c0002t0001g0111
a0001c0006t0001g0112
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0123
a0009c0012t0007g0136
 6 HG00738.hp1
HG01257.hp2
HG02615.hp2
others(3): Show 
HG00738.hp1
HG01257.hp2
HG02615.hp2
HG03130.hp1
HG04115.hp2
NA20129.hp2
 intron_variant MODIFIER c.33+10868_33+10869i
others(4): Show 
c.33+10868_33+10869insTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508330
chr1:51508330 G
G
 GGAA
GGAA
 3 a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
 3 HG02559.hp2
HG03195.hp1
NA19043.hp1
HG02559.hp2
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.33+10868_33+10869i
others(5): Show 
c.33+10868_33+10869insTTC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508330
chr1:51508330 GAGAA
GAGAA
 G
G
 2 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0002g0030
a0001c0002t0002g0031
 2 HG02630.hp2
NA19240.hp1
HG02630.hp2
NA19240.hp1
 intron_variant MODIFIER c.33+10865_33+10868d
others(6): Show 
c.33+10865_33+10868delTTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508330
chr1:51508331 A
A
 AAAG
AAAG
 2 a0002c0001t0011g0130
a0006c0010t0026g0129
a0002c0001t0011g0130
a0006c0010t0026g0129
 2 HG01109.hp2
HG03471.hp2
HG01109.hp2
HG03471.hp2
 intron_variant MODIFIER c.33+10867_33+10868i
others(5): Show 
c.33+10867_33+10868insCTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508331
chr1:51508332 G
G
 A
A
 1 a0002c0001t0022g0115
a0002c0001t0022g0115
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.33+10867C>T
c.33+10867C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508332
chr1:51508334 A
A
 G
G
 4 a0001c0002t0001g0048
a0001c0002t0001g0051
a0002c0001t0022g0115
others(1): Show 
a0001c0002t0001g0048
a0001c0002t0001g0051
a0002c0001t0022g0115
a0003c0005t0001g0057
 4 HG01257.hp1
HG02818.hp2
HG03688.hp2
others(1): Show 
HG01257.hp1
HG02818.hp2
HG03688.hp2
HG06807.hp1
 intron_variant MODIFIER c.33+10865T>C
c.33+10865T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508334
chr1:51508334 AAG
AAG
 A
A
 3 a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0014g0037
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0014g0037
 3 HG02451.hp2
HG02486.hp1
HG03139.hp1
HG02451.hp2
HG02486.hp1
HG03139.hp1
 intron_variant MODIFIER c.33+10863_33+10864d
others(4): Show 
c.33+10863_33+10864delCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508334
chr1:51508334 AAGAG
AAGAG
 A
A
 4 a0001c0003t0001g0053
a0001c0003t0001g0081
a0001c0003t0003g0054
others(1): Show 
a0001c0003t0001g0053
a0001c0003t0001g0081
a0001c0003t0003g0054
a0002c0001t0006g0028
 4 HG00642.hp2
HG02145.hp2
HG02572.hp1
others(1): Show 
HG00642.hp2
HG02145.hp2
HG02572.hp1
HG03453.hp1
 intron_variant MODIFIER c.33+10861_33+10864d
others(6): Show 
c.33+10861_33+10864delCTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508334
chr1:51508336 G
G
 A
A
 3 a0001c0002t0001g0048
a0001c0002t0001g0051
a0003c0005t0001g0057
a0001c0002t0001g0048
a0001c0002t0001g0051
a0003c0005t0001g0057
 3 HG01257.hp1
HG02818.hp2
HG03688.hp2
HG01257.hp1
HG02818.hp2
HG03688.hp2
 intron_variant MODIFIER c.33+10863C>T
c.33+10863C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508336
chr1:51508336 GAGAGAA
GAGAGAA
 G
G
 3 a0002c0001t0005g0138
a0002c0001t0005g0139
a0008c0011t0025g0140
a0002c0001t0005g0138
a0002c0001t0005g0139
a0008c0011t0025g0140
 3 HG02257.hp2
HG03209.hp1
NA19030.hp1
HG02257.hp2
HG03209.hp1
NA19030.hp1
 intron_variant MODIFIER c.33+10857_33+10862d
others(8): Show 
c.33+10857_33+10862delTTCTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508336
chr1:51508338 G
G
 A
A
 35 a0001c0002t0001g0092
a0001c0002t0001g0111
a0001c0003t0001g0089
others(32): Show 
a0001c0002t0001g0092
a0001c0002t0001g0111
a0001c0003t0001g0089
a0001c0003t0001g0090
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0095
a0001c0003t0001g0096
a0001c0003t0001g0097
a0001c0003t0001g0098
a0001c0003t0001g0099
a0001c0003t0001g0100
a0001c0003t0001g0101
a0001c0003t0001g0103
a0001c0003t0001g0107
a0001c0003t0001g0108
a0001c0006t0001g0104
a0001c0006t0001g0112
a0002c0001t0005g0149
a0002c0001t0006g0029
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0021g0147
a0002c0001t0022g0115
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 35 HG00438.hp2
HG00642.hp1
HG00738.hp1
others(32): Show 
HG00438.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG01109.hp2
HG01168.hp1
HG01192.hp2
HG01257.hp2
HG01261.hp1
HG01346.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01952.hp2
HG02258.hp1
HG02559.hp2
HG02615.hp2
HG02735.hp1
HG03130.hp1
HG03195.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03834.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.33+10861C>T
c.33+10861C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508338
chr1:51508338 G
G
 GAA
GAA
 5 a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
others(2): Show 
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0150
a0002c0001t0024g0145
 5 HG01109.hp1
HG01175.hp1
HG01891.hp2
others(2): Show 
HG01109.hp1
HG01175.hp1
HG01891.hp2
HG02055.hp2
HG02615.hp1
 intron_variant MODIFIER c.33+10860_33+10861i
others(4): Show 
c.33+10860_33+10861insTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508338
chr1:51508338 G
G
 GAAAGAA
GAAAGAA
 3 a0002c0001t0005g0148
a0002c0001t0014g0036
a0002c0001t0023g0151
a0002c0001t0005g0148
a0002c0001t0014g0036
a0002c0001t0023g0151
 3 HG02258.hp2
HG02976.hp2
NA20300.hp1
HG02258.hp2
HG02976.hp2
NA20300.hp1
 intron_variant MODIFIER c.33+10860_33+10861i
others(8): Show 
c.33+10860_33+10861insTTCTTT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508338
chr1:51508338 G
G
 GAGAA
GAGAA
 15 a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
others(12): Show 
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0084
a0001c0002t0001g0085
a0001c0002t0001g0086
a0001c0002t0001g0087
a0001c0002t0001g0088
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0006g0035
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0003c0005t0001g0017
a0007c0009t0015g0125
 15 HG00733.hp2
HG01261.hp2
HG02257.hp1
others(12): Show 
HG00733.hp2
HG01261.hp2
HG02257.hp1
HG02922.hp2
HG03139.hp2
HG03486.hp1
HG03491.hp2
HG03654.hp2
HG03688.hp1
NA18747.hp2
NA18906.hp2
NA19011.hp1
NA19043.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.33+10857_33+10860d
others(6): Show 
c.33+10857_33+10860dupTTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508338
chr1:51508338 G
G
 GAGAAAGA
others(1): Show 
GAGAAAGAA
 7 a0001c0002t0001g0091
a0001c0002t0001g0114
a0001c0002t0020g0050
others(4): Show 
a0001c0002t0001g0091
a0001c0002t0001g0114
a0001c0002t0020g0050
a0001c0003t0001g0102
a0002c0001t0004g0038
a0002c0001t0009g0118
a0002c0001t0009g0119
 7 HG00733.hp1
HG02738.hp1
HG03491.hp1
others(4): Show 
HG00733.hp1
HG02738.hp1
HG03491.hp1
HG03492.hp2
HG04204.hp1
HG04228.hp2
NA19240.hp2
 intron_variant MODIFIER c.33+10853_33+10860d
others(10): Show 
c.33+10853_33+10860dupTTCTTTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508338
chr1:51508338 G
G
 GAGAAAGA
others(5): Show 
GAGAAAGAAAGAA
 5 a0001c0002t0003g0106
a0001c0002t0018g0105
a0001c0003t0001g0109
others(2): Show 
a0001c0002t0003g0106
a0001c0002t0018g0105
a0001c0003t0001g0109
a0001c0003t0001g0110
a0002c0001t0004g0039
 5 HG01074.hp1
HG01167.hp1
HG02630.hp1
others(2): Show 
HG01074.hp1
HG01167.hp1
HG02630.hp1
HG02723.hp1
NA18957.hp2
 intron_variant MODIFIER c.33+10849_33+10860d
others(14): Show 
c.33+10849_33+10860dupTTCTTTCTTTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508338
chr1:51508338 GAGAA
GAGAA
 G
G
 25 a0001c0002t0001g0045
a0001c0002t0001g0046
a0001c0002t0001g0052
others(22): Show 
a0001c0002t0001g0045
a0001c0002t0001g0046
a0001c0002t0001g0052
a0001c0002t0001g0064
a0001c0002t0003g0049
a0001c0002t0003g0058
a0001c0002t0003g0059
a0001c0002t0003g0060
a0001c0002t0003g0061
a0001c0002t0013g0062
a0001c0002t0013g0065
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0010g0044
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0137
a0002c0014t0002g0010
a0010c0013t0001g0063
 25 HG00741.hp2
HG01167.hp2
HG01175.hp2
others(22): Show 
HG00741.hp2
HG01167.hp2
HG01175.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG01952.hp1
HG02055.hp1
HG02145.hp1
HG02451.hp1
HG02486.hp2
HG02572.hp2
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.33+10857_33+10860d
others(6): Show 
c.33+10857_33+10860delTTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508338
chr1:51508338 GAGAAAGA
others(1): Show 
GAGAAAGAA
 G
G
 5 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0010g0041
others(2): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0007t0010g0043
 5 HG00735.hp1
HG01192.hp1
HG02109.hp2
others(2): Show 
HG00735.hp1
HG01192.hp1
HG02109.hp2
HG02717.hp2
HG03209.hp2
 intron_variant MODIFIER c.33+10853_33+10860d
others(10): Show 
c.33+10853_33+10860delTTCTTTCT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508338
chr1:51508340 G
G
 A
A
 2 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0002g0030
a0001c0002t0002g0031
 2 HG02630.hp2
NA19240.hp1
HG02630.hp2
NA19240.hp1
 intron_variant MODIFIER c.33+10859C>T
c.33+10859C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508340
chr1:51508342 A
A
 G
G
 3 a0001c0002t0002g0030
a0001c0002t0002g0031
a0002c0001t0022g0115
a0001c0002t0002g0030
a0001c0002t0002g0031
a0002c0001t0022g0115
 3 HG02630.hp2
HG06807.hp1
NA19240.hp1
HG02630.hp2
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.33+10857T>C
c.33+10857T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508342
chr1:51508346 A
A
 G
G
 2 a0001c0002t0001g0051
a0003c0005t0001g0057
a0001c0002t0001g0051
a0003c0005t0001g0057
 2 HG01257.hp1
HG03688.hp2
HG01257.hp1
HG03688.hp2
 intron_variant MODIFIER c.33+10853T>C
c.33+10853T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508346
chr1:51508350 A
A
 G
G
 2 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0002g0030
a0001c0002t0002g0031
 2 HG02630.hp2
NA19240.hp1
HG02630.hp2
NA19240.hp1
 intron_variant MODIFIER c.33+10849T>C
c.33+10849T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508350
chr1:51508370 A
A
 G
G
 3 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
 3 HG00642.hp1
HG01257.hp2
NA20129.hp2
HG00642.hp1
HG01257.hp2
NA20129.hp2
 intron_variant MODIFIER c.33+10829T>C
c.33+10829T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508370
chr1:51508385 A
A
 G
G
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+10814T>C
c.33+10814T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508385
chr1:51508404 A
A
 G
G
 1 a0001c0002t0003g0049
a0001c0002t0003g0049
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.33+10795T>C
c.33+10795T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508404
chr1:51508672 T
T
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+10527A>G
c.33+10527A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508672
chr1:51508778 T
T
 C
C
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.33+10421A>G
c.33+10421A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508778
chr1:51508839 A
A
 G
G
 77 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(74): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0005c0008t0002g0033
a0006c0010t0026g0129
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 77 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(74): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.33+10360T>C
c.33+10360T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508839
chr1:51508938 C
C
 G
G
 4 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(1): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0005c0008t0002g0033
 4 HG02630.hp2
HG02717.hp1
HG02976.hp1
others(1): Show 
HG02630.hp2
HG02717.hp1
HG02976.hp1
NA19240.hp1
 intron_variant MODIFIER c.33+10261G>C
c.33+10261G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508938
chr1:51508974 A
A
 G
G
 2 a0001c0002t0001g0051
a0001c0002t0001g0056
a0001c0002t0001g0051
a0001c0002t0001g0056
 2 HG03688.hp2
HG04199.hp2
HG03688.hp2
HG04199.hp2
 intron_variant MODIFIER c.33+10225T>C
c.33+10225T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51508974
chr1:51509246 T
T
 TTCATATT
others(307): Show 
TTCATATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC
TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT
GGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG
TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC
TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA
GCCACCGCGCCCGGC
 1 a0002c0001t0004g0040
a0002c0001t0004g0040
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.33+9952_33+9953ins
others(314): Show 
c.33+9952_33+9953insGCCGGGCGCGGTGGCTCACGCCTGTAATCC
CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG
ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA
ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC
TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG
AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT
CCGTCTCAAAAAAAAAAAAAAAAAAAAAATATGA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51509246
chr1:51509246 T
T
 TTCATATT
others(308): Show 
TTCATATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC
GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG
CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC
TGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA
GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC
CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG
AGCCACCGCGCCCGGC
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.33+9952_33+9953ins
others(315): Show 
c.33+9952_33+9953insGCCGGGCGCGGTGGCTCACGCCTGTAATCC
CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG
ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA
ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC
TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG
AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT
CCGTCTCAAAAAAAAAAAAAAAAAAAAAAATATGA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51509246
chr1:51509246 T
T
 TTCATTTT
others(307): Show 
TTCATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC
TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT
GGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG
TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC
TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA
GCCACCGCGCCCGGC
 4 a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
others(1): Show 
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 4 HG02109.hp2
HG02717.hp2
HG02818.hp1
others(1): Show 
HG02109.hp2
HG02717.hp2
HG02818.hp1
HG03209.hp2
 intron_variant MODIFIER c.33+9952_33+9953ins
others(314): Show 
c.33+9952_33+9953insGCCGGGCGCGGTGGCTCACGCCTGTAATCC
CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG
ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA
ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC
TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG
AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT
CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATGA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51509246
chr1:51509502 A
A
 G
G
 3 a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0016g0027
 3 HG02572.hp1
HG03041.hp1
NA18522.hp2
HG02572.hp1
HG03041.hp1
NA18522.hp2
 intron_variant MODIFIER c.33+9697T>C
c.33+9697T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51509502
chr1:51509539 A
A
 G
G
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.33+9660T>C
c.33+9660T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51509539
chr1:51509543 T
T
 C
C
 1 a0002c0001t0008g0123
a0002c0001t0008g0123
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.33+9656A>G
c.33+9656A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51509543
chr1:51509585 C
C
 T
T
 1 a0001c0002t0019g0055
a0001c0002t0019g0055
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.33+9614G>A
c.33+9614G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51509585
chr1:51510126 CAT
CAT
 C
C
 2 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0038
a0002c0001t0004g0039
 2 HG02630.hp1
NA19240.hp2
HG02630.hp1
NA19240.hp2
 intron_variant MODIFIER c.33+9071_33+9072del
others(2): Show 
c.33+9071_33+9072delAT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51510126
chr1:51510134 G
G
 C
C
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.33+9065C>G
c.33+9065C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51510134
chr1:51510262 C
C
 G
G
 1 a0002c0001t0010g0041
a0002c0001t0010g0041
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.33+8937G>C
c.33+8937G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51510262
chr1:51510276 C
C
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+8923G>A
c.33+8923G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51510276
chr1:51510341 G
G
 C
C
 1 a0001c0006t0001g0112
a0001c0006t0001g0112
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.33+8858C>G
c.33+8858C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51510341
chr1:51510835 G
G
 GA
GA
 4 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(1): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0009c0012t0007g0136
 4 HG00642.hp1
HG01257.hp2
HG03130.hp1
others(1): Show 
HG00642.hp1
HG01257.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+8363dupT
c.33+8363dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51510835
chr1:51510848 G
G
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+8351C>T
c.33+8351C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51510848
chr1:51511211 T
T
 G
G
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.33+7988A>C
c.33+7988A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51511211
chr1:51511240 T
T
 C
C
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.33+7959A>G
c.33+7959A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51511240
chr1:51511338 C
C
 CA
CA
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.33+7860dupT
c.33+7860dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51511338
chr1:51511578 T
T
 C
C
 1 a0002c0001t0004g0040
a0002c0001t0004g0040
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.33+7621A>G
c.33+7621A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51511578
chr1:51511990 C
C
 T
T
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.33+7209G>A
c.33+7209G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51511990
chr1:51512103 A
A
 G
G
 7 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(4): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0005c0008t0002g0033
 7 HG02257.hp1
HG02630.hp2
HG02717.hp1
others(4): Show 
HG02257.hp1
HG02630.hp2
HG02717.hp1
HG02976.hp1
HG03139.hp2
NA19043.hp2
NA19240.hp1
 intron_variant MODIFIER c.33+7096T>C
c.33+7096T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51512103
chr1:51512126 A
A
 G
G
 3 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
 3 HG00735.hp2
HG03491.hp1
HG03492.hp2
HG00735.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.33+7073T>C
c.33+7073T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51512126
chr1:51512133 T
T
 A
A
 2 a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0014g0036
a0002c0001t0014g0037
 2 HG02451.hp2
HG02976.hp2
HG02451.hp2
HG02976.hp2
 intron_variant MODIFIER c.33+7066A>T
c.33+7066A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51512133
chr1:51512524 G
G
 A
A
 64 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(61): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0004c0015t0011g0152
a0006c0010t0026g0129
a0008c0011t0025g0140
a0009c0012t0007g0136
 64 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(61): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.33+6675C>T
c.33+6675C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51512524
chr1:51512534 A
A
 G
G
 2 a0002c0001t0012g0001
a0002c0001t0012g0003
a0002c0001t0012g0001
a0002c0001t0012g0003
 2 HG02257.hp1
HG03139.hp2
HG02257.hp1
HG03139.hp2
 intron_variant MODIFIER c.33+6665T>C
c.33+6665T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51512534
chr1:51512582 G
G
 C
C
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.33+6617C>G
c.33+6617C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51512582
chr1:51512586 G
G
 C
C
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.33+6613C>G
c.33+6613C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51512586
chr1:51512693 A
A
 G
G
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.33+6506T>C
c.33+6506T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51512693
chr1:51512700 T
T
 A
A
 1 a0002c0001t0012g0003
a0002c0001t0012g0003
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.33+6499A>T
c.33+6499A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51512700
chr1:51512716 T
T
 G
G
 2 a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0006g0034
a0002c0001t0006g0035
 2 HG03098.hp1
NA18906.hp2
HG03098.hp1
NA18906.hp2
 intron_variant MODIFIER c.33+6483A>C
c.33+6483A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51512716
chr1:51512800 CAT
CAT
 C
C
 16 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(13): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 16 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(13): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.33+6397_33+6398del
others(2): Show 
c.33+6397_33+6398delAT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51512800
chr1:51512843 C
C
 CT
CT
 22 a0001c0002t0001g0045
a0001c0002t0001g0051
a0001c0002t0001g0052
others(19): Show 
a0001c0002t0001g0045
a0001c0002t0001g0051
a0001c0002t0001g0052
a0001c0003t0001g0053
a0001c0003t0003g0054
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0009g0116
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0024g0145
a0008c0011t0025g0140
 22 HG00642.hp2
HG01109.hp1
HG01175.hp1
others(19): Show 
HG00642.hp2
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG02055.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02572.hp2
HG02615.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03486.hp2
HG03688.hp2
HG06807.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA20300.hp1
 intron_variant MODIFIER c.33+6355dupA
c.33+6355dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51512843
chr1:51512843 CT
CT
 C
C
 12 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(9): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 12 HG00642.hp1
HG00735.hp2
HG01109.hp2
others(9): Show 
HG00642.hp1
HG00735.hp2
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
HG03491.hp1
HG03492.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+6355delA
c.33+6355delA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51512843
chr1:51512986 G
G
 A
A
 1 a0001c0002t0001g0113
a0001c0002t0001g0113
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.33+6213C>T
c.33+6213C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51512986
chr1:51513006 T
T
 A
A
 7 a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
others(4): Show 
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 7 HG00735.hp2
HG02109.hp2
HG02717.hp2
others(4): Show 
HG00735.hp2
HG02109.hp2
HG02717.hp2
HG02818.hp1
HG03209.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.33+6193A>T
c.33+6193A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51513006
chr1:51513253 T
T
 C
C
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.33+5946A>G
c.33+5946A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51513253
chr1:51513327 C
C
 G
G
 2 a0002c0001t0009g0116
a0002c0001t0022g0115
a0002c0001t0009g0116
a0002c0001t0022g0115
 2 HG06807.hp1
NA19030.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.33+5872G>C
c.33+5872G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51513327
chr1:51513622 C
C
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+5577G>T
c.33+5577G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51513622
chr1:51513738 G
G
 A
A
 1 a0002c0001t0014g0037
a0002c0001t0014g0037
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.33+5461C>T
c.33+5461C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51513738
chr1:51513953 A
A
 G
G
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+5246T>C
c.33+5246T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51513953
chr1:51513954 T
T
 G
G
 1 a0001c0002t0001g0114
a0001c0002t0001g0114
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.33+5245A>C
c.33+5245A>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51513954
chr1:51514012 GGTAGA
GGTAGA
 G
G
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.33+5182_33+5186del
others(5): Show 
c.33+5182_33+5186delTCTAC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51514012
chr1:51514081 G
G
 A
A
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.33+5118C>T
c.33+5118C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51514081
chr1:51514178 C
C
 T
T
 1 a0001c0002t0020g0050
a0001c0002t0020g0050
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.33+5021G>A
c.33+5021G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51514178
chr1:51514365 A
A
 AT
AT
 8 a0001c0002t0003g0049
a0002c0001t0006g0028
a0002c0001t0006g0029
others(5): Show 
a0001c0002t0003g0049
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0016g0027
a0009c0012t0007g0136
 8 HG00642.hp1
HG01257.hp2
HG02572.hp1
others(5): Show 
HG00642.hp1
HG01257.hp2
HG02572.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
NA18522.hp2
NA20129.hp2
 intron_variant MODIFIER c.33+4833dupA
c.33+4833dupA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51514365
chr1:51514375 T
T
 A
A
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.33+4824A>T
c.33+4824A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51514375
chr1:51514375 T
T
 TA
TA
 7 a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
others(4): Show 
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0007t0010g0043
 7 HG02109.hp2
HG02630.hp1
HG02717.hp2
others(4): Show 
HG02109.hp2
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG03209.hp2
HG03453.hp2
NA19240.hp2
 intron_variant MODIFIER c.33+4823dupT
c.33+4823dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51514375
chr1:51514376 A
A
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+4823T>A
c.33+4823T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51514376
chr1:51514377 A
A
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+4822T>A
c.33+4822T>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51514377
chr1:51514558 T
T
 C
C
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+4641A>G
c.33+4641A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51514558
chr1:51514831 T
T
 C
C
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.33+4368A>G
c.33+4368A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51514831
chr1:51515258 T
T
 A
A
 1 a0002c0001t0008g0123
a0002c0001t0008g0123
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.33+3941A>T
c.33+3941A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51515258
chr1:51515258 T
T
 TA
TA
 14 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(11): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 14 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(11): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.33+3940dupT
c.33+3940dupT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51515258
chr1:51515314 A
A
 C
C
 4 a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
others(1): Show 
a0001c0002t0001g0026
a0001c0002t0001g0046
a0001c0002t0001g0047
a0001c0002t0001g0048
 4 HG00639.hp2
HG02647.hp1
HG02818.hp2
others(1): Show 
HG00639.hp2
HG02647.hp1
HG02818.hp2
HG03471.hp1
 intron_variant MODIFIER c.33+3885T>G
c.33+3885T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51515314
chr1:51515449 G
G
 A
A
 1 a0001c0002t0001g0114
a0001c0002t0001g0114
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.33+3750C>T
c.33+3750C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51515449
chr1:51515476 C
C
 T
T
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.33+3723G>A
c.33+3723G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51515476
chr1:51515481 CA
CA
 C
C
 6 a0001c0002t0001g0045
a0002c0001t0011g0130
a0002c0001t0011g0131
others(3): Show 
a0001c0002t0001g0045
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 6 HG01109.hp2
HG02559.hp2
HG02572.hp2
others(3): Show 
HG01109.hp2
HG02559.hp2
HG02572.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.33+3717delT
c.33+3717delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51515481
chr1:51515486 A
A
 C
C
 72 a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
others(69): Show 
a0001c0002t0002g0030
a0001c0002t0002g0031
a0001c0002t0017g0032
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0038
a0002c0001t0004g0039
a0002c0001t0004g0040
a0002c0001t0004g0124
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0006g0028
a0002c0001t0006g0029
a0002c0001t0006g0034
a0002c0001t0006g0035
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0010g0041
a0002c0001t0010g0042
a0002c0001t0010g0044
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0014g0036
a0002c0001t0014g0037
a0002c0001t0016g0027
a0002c0001t0021g0147
a0002c0001t0022g0115
a0002c0001t0023g0151
a0002c0001t0024g0145
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0007t0010g0043
a0002c0014t0002g0010
a0005c0008t0002g0033
a0007c0009t0015g0125
a0008c0011t0025g0140
a0009c0012t0007g0136
 72 HG00642.hp1
HG00733.hp2
HG00735.hp1
others(69): Show 
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp1
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.33+3713T>G
c.33+3713T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51515486
chr1:51515487 A
A
 C
C
 5 a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
others(2): Show 
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
 5 HG01109.hp2
HG02559.hp2
HG03195.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG03195.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.33+3712T>G
c.33+3712T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51515487
chr1:51515523 C
C
 G
G
 2 a0002c0001t0009g0116
a0002c0001t0022g0115
a0002c0001t0009g0116
a0002c0001t0022g0115
 2 HG06807.hp1
NA19030.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.33+3676G>C
c.33+3676G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51515523
chr1:51515883 A
A
 C
C
 1 a0001c0002t0001g0026
a0001c0002t0001g0026
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.33+3316T>G
c.33+3316T>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51515883
chr1:51516026 T
T
 C
C
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.33+3173A>G
c.33+3173A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51516026
chr1:51516032 T
T
 C
C
 9 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(6): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
 9 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(6): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.33+3167A>G
c.33+3167A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51516032
chr1:51516089 C
C
 T
T
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+3110G>A
c.33+3110G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51516089
chr1:51516145 T
T
 A
A
 9 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(6): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
 9 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(6): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.33+3054A>T
c.33+3054A>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51516145
chr1:51516285 C
C
 T
T
 8 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(5): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0124
 8 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(5): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.33+2914G>A
c.33+2914G>A
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51516285
chr1:51516457 GTT
GTT
 G
G
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.33+2740_33+2741del
others(2): Show 
c.33+2740_33+2741delAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51516457
chr1:51516461 G
G
 A
A
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.33+2738C>T
c.33+2738C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51516461
chr1:51516464 G
G
 GGAAC
GGAAC
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.33+2734_33+2735ins
others(4): Show 
c.33+2734_33+2735insGTTC
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51516464
chr1:51516547 A
A
 G
G
 9 a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
others(6): Show 
a0002c0001t0004g0018
a0002c0001t0004g0019
a0002c0001t0004g0020
a0002c0001t0004g0021
a0002c0001t0004g0022
a0002c0001t0004g0023
a0002c0001t0004g0024
a0002c0001t0004g0025
a0002c0001t0004g0124
 9 HG00733.hp2
HG00735.hp1
HG01192.hp1
others(6): Show 
HG00733.hp2
HG00735.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02109.hp1
HG02922.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.33+2652T>C
c.33+2652T>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51516547
chr1:51516574 G
G
 C
C
 4 a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
others(1): Show 
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
 4 HG00738.hp1
HG01516.hp1
HG01517.hp1
others(1): Show 
HG00738.hp1
HG01516.hp1
HG01517.hp1
NA20805.hp2
 intron_variant MODIFIER c.33+2625C>G
c.33+2625C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51516574
chr1:51516599 G
G
 A
A
 5 a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
others(2): Show 
a0002c0001t0009g0116
a0002c0001t0009g0117
a0002c0001t0009g0118
a0002c0001t0009g0119
a0002c0001t0022g0115
 5 HG00735.hp2
HG03491.hp1
HG03492.hp2
others(2): Show 
HG00735.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.33+2600C>T
c.33+2600C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51516599
chr1:51516747 AATC
AATC
 A
A
 9 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(6): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 9 HG00642.hp1
HG01109.hp2
HG01257.hp2
others(6): Show 
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+2449_33+2451del
others(3): Show 
c.33+2449_33+2451delGAT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51516747
chr1:51517163 G
G
 C
C
 13 a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
others(10): Show 
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 13 HG00642.hp1
HG00738.hp1
HG01109.hp2
others(10): Show 
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.33+2036C>G
c.33+2036C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51517163
chr1:51517612 C
C
 G
G
 1 a0003c0005t0001g0017
a0003c0005t0001g0017
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.33+1587G>C
c.33+1587G>C
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51517612
chr1:51517735 C
C
 CTTCCCCA
others(6): Show 
CTTCCCCACTGTTA
 16 a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
others(13): Show 
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0008g0120
a0002c0001t0008g0121
a0002c0001t0008g0122
a0002c0001t0008g0123
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 16 HG00438.hp1
HG00642.hp1
HG00738.hp1
others(13): Show 
HG00438.hp1
HG00642.hp1
HG00738.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp1
HG01517.hp1
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA18747.hp1
NA19011.hp2
NA19043.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.33+1463_33+1464ins
others(13): Show 
c.33+1463_33+1464insTAACAGTGGGGAA
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51517735
chr1:51517787 T
T
 C
C
 15 a0002c0001t0004g0124
a0002c0004t0002g0004
a0002c0004t0002g0005
others(12): Show 
a0002c0001t0004g0124
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 15 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(12): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02109.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.33+1412A>G
c.33+1412A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51517787
chr1:51517794 T
T
 C
C
 12 a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
others(9): Show 
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 12 HG00438.hp1
HG00642.hp1
HG01109.hp2
others(9): Show 
HG00438.hp1
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA18747.hp1
NA19011.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+1405A>G
c.33+1405A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51517794
chr1:51518544 G
G
 A
A
 1 a0007c0009t0015g0125
a0007c0009t0015g0125
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.33+655C>T
c.33+655C>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51518544
chr1:51518576 T
T
 C
C
 1 a0002c0004t0002g0137
a0002c0004t0002g0137
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.33+623A>G
c.33+623A>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51518576
chr1:51518804 G
G
 GCT
GCT
 14 a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
others(11): Show 
a0002c0004t0002g0004
a0002c0004t0002g0005
a0002c0004t0002g0006
a0002c0004t0002g0007
a0002c0004t0002g0008
a0002c0004t0002g0009
a0002c0004t0002g0011
a0002c0004t0002g0012
a0002c0004t0002g0013
a0002c0004t0002g0014
a0002c0004t0002g0015
a0002c0004t0002g0016
a0002c0004t0002g0137
a0002c0014t0002g0010
 14 HG01167.hp2
HG01346.hp1
HG01891.hp1
others(11): Show 
HG01167.hp2
HG01346.hp1
HG01891.hp1
HG02486.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03654.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.33+393_33+394dupAG
c.33+393_33+394dupAG
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51518804
chr1:51518880 G
G
 C
C
 12 a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
others(9): Show 
a0001c0002t0001g0126
a0001c0002t0001g0127
a0001c0002t0001g0128
a0002c0001t0007g0133
a0002c0001t0007g0134
a0002c0001t0007g0135
a0002c0001t0011g0130
a0002c0001t0011g0131
a0002c0001t0011g0132
a0004c0015t0011g0152
a0006c0010t0026g0129
a0009c0012t0007g0136
 12 HG00438.hp1
HG00642.hp1
HG01109.hp2
others(9): Show 
HG00438.hp1
HG00642.hp1
HG01109.hp2
HG01257.hp2
HG02559.hp2
HG03130.hp1
HG03195.hp1
HG03471.hp2
NA18747.hp1
NA19011.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.33+319C>G
c.33+319C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51518880
chr1:51519072 C
C
 A
A
 1 a0002c0004t0002g0137
a0002c0004t0002g0137
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.33+127G>T
c.33+127G>T
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51519072
chr1:51519087 CA
CA
 C
C
 3 a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
a0002c0001t0012g0001
a0002c0001t0012g0002
a0002c0001t0012g0003
 3 HG02257.hp1
HG03139.hp2
NA19043.hp2
HG02257.hp1
HG03139.hp2
NA19043.hp2
 intron_variant MODIFIER c.33+111delT
c.33+111delT
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51519087
chr1:51519135 G
G
 C
C
 14 a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
others(11): Show 
a0002c0001t0005g0138
a0002c0001t0005g0139
a0002c0001t0005g0141
a0002c0001t0005g0142
a0002c0001t0005g0143
a0002c0001t0005g0144
a0002c0001t0005g0146
a0002c0001t0005g0148
a0002c0001t0005g0149
a0002c0001t0005g0150
a0002c0001t0021g0147
a0002c0001t0023g0151
a0002c0001t0024g0145
a0008c0011t0025g0140
 14 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(11): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.33+64C>G
c.33+64C>G
EPS15 ENSG00000085832.18 transcript ENST00000371733.8 protein_coding 1/24 chr1 51519135

  • 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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