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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   EHBP1_chr2_62700713_63051487  EHBP1_chr2_62700713_63051487 (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 23301
ensemblid ENSG00000115504.15
hgncid 29144
symbol EHBP1
name EH domain binding protein 1
refseq_nuc NM_001142616.3
refseq_prot NP_001136088.1
ensembl_nuc ENST00000431489.6
ensembl_prot ENSP00000403783.1
mane_status MANE Select
chr chr2
start 62705713
end 63046487
strand +
ver v1.2
region chr2:62705713-63046487
region5000 chr2:62700713-63051487
regionname0 EHBP1_chr2_62705713_63046487
regionname5000 EHBP1_chr2_62700713_63051487

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 1160 182 49 34 65 10 22 43 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
a0002 0/0 1160 13 1 3 5 0 4 3 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
a0003 0/0 1160 2 0 2 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
a0004 0/0 1160 1 0 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 3483 168 39 31 65 10 21 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
c0002 0/0 3483 13 1 3 5 0 4 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
c0003 0/0 3483 6 6 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
c0004 0/0 3483 4 3 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
c0005 0/0 3483 2 0 2 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
c0006 0/0 3483 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
c0007 0/0 3483 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
c0008 0/0 3483 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
c0009 0/0 3483 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
c0010 0/0 3483 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/1 1623 160 46 30 50 9 23 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
t0002 0/0 1623 34 1 10 19 1 3 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
t0003 0/0 1623 2 2 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
t0004 0/0 1623 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
t0005 0/0 1623 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 1 0 0 0 1 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0002 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0003 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0004 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0005 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0006 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0007 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0008 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0009 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0010 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0011 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0012 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0013 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0014 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0015 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0016 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0017 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0018 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0019 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0020 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0021 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0022 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0023 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0024 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0025 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0026 0/0 1 0 0 0 1 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0027 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0028 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0029 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0030 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0031 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0032 0/0 1 0 0 0 1 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0033 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0034 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0035 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0036 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0037 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0038 0/0 1 0 0 0 1 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0039 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0040 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0041 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0042 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0043 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0044 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0045 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0046 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0047 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0048 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0049 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0050 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0051 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0052 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0053 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0054 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0055 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0056 0/0 1 0 0 0 1 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0057 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0058 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0059 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0060 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0061 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0062 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0063 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0064 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0065 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0066 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0067 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0068 0/1 1 0 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0069 0/0 1 0 0 0 1 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0070 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0071 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0072 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0073 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0074 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0075 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0076 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0077 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0078 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0079 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0080 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0081 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0082 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0083 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0084 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0085 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0086 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0087 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0088 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0089 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0090 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0091 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0092 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0093 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0094 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0095 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0096 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0097 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0098 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0099 0/0 1 0 0 0 1 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0100 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0101 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0102 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0103 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0104 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0105 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0106 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0107 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0108 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0109 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0110 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0111 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0112 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0113 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0114 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0115 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0116 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0117 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0118 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0119 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0120 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0121 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0122 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0123 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0124 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0125 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0126 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0127 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0128 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0129 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0130 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0131 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0132 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0133 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0134 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0135 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0136 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0137 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0138 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0139 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0140 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0141 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0142 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0143 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0144 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0145 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0146 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0147 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0148 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0149 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0150 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0151 1/0 1 0 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0152 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0153 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0154 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0155 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0156 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0157 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0158 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0159 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0160 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0161 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0162 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0163 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0164 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0165 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0166 0/0 1 0 0 0 1 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0167 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0168 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0169 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0170 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0171 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0172 0/0 1 0 0 0 1 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0173 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0174 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0175 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0176 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0177 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0178 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0179 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0180 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0181 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0182 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0183 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0184 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0185 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0186 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0187 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0188 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0189 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0190 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0191 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0192 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0193 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0194 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0195 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0196 0/0 1 0 0 0 1 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0197 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
g0198 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/1 3483 168 39 31 65 10 21 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
a0001c0003 0/0 3483 6 6 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
a0001c0004 0/0 3483 4 3 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
a0001c0006 0/0 3483 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
a0001c0007 0/0 3483 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
a0001c0008 0/0 3483 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
a0001c0010 0/0 3483 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
a0002c0002 0/0 3483 13 1 3 5 0 4 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
a0003c0005 0/0 3483 2 0 2 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
a0004c0009 0/0 3483 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 1/1 5105 133 37 22 45 9 18 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
a0001c0001t0002 0/0 5105 33 1 9 19 1 3 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
a0001c0001t0004 0/0 5105 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
a0001c0001t0005 0/0 5105 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
a0001c0003t0001 0/0 5105 6 6 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
a0001c0004t0001 0/0 5105 2 1 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
a0001c0004t0003 0/0 5105 2 2 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
a0001c0006t0001 0/0 5105 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
a0001c0007t0002 0/0 5105 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
a0001c0008t0001 0/0 5105 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
a0001c0010t0001 0/0 5105 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
a0002c0002t0001 0/0 5105 13 1 3 5 0 4 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
a0003c0005t0001 0/0 5105 2 0 2 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487
a0004c0009t0001 0/0 5105 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 copy fasta chr2 62700713 63051487

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 0/0 1 0 0 0 1 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0002 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0003 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0006 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0007 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0015 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0016 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0017 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0018 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0019 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0020 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0021 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0022 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0023 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0024 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0025 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0026 0/0 1 0 0 0 1 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0027 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0028 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0029 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0030 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0031 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0032 0/0 1 0 0 0 1 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0033 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0034 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0035 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0036 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0038 0/0 1 0 0 0 1 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0039 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0040 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0041 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0042 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0043 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0044 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0045 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0046 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0047 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0048 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0049 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0050 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0051 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0052 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0053 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0054 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0055 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0056 0/0 1 0 0 0 1 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0057 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0058 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0059 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0060 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0061 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0062 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0063 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0064 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0065 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0067 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0068 0/1 1 0 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0069 0/0 1 0 0 0 1 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0070 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0072 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0073 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0074 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0075 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0077 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0078 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0079 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0098 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0106 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0107 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0116 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0117 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0119 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0120 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0122 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0123 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0124 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0126 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0127 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0128 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0129 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0130 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0132 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0133 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0134 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0135 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0136 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0137 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0138 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0139 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0140 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0141 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0142 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0144 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0145 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0146 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0147 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0148 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0149 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0150 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0151 1/0 1 0 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0152 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0153 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0154 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0156 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0157 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0158 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0159 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0161 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0162 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0165 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0166 0/0 1 0 0 0 1 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0167 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0169 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0170 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0171 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0172 0/0 1 0 0 0 1 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0173 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0174 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0175 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0177 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0178 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0179 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0180 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0181 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0182 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0183 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0184 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0185 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0192 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0193 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0194 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0196 0/0 1 0 0 0 1 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0001g0198 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0037 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0080 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0081 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0082 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0083 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0084 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0085 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0086 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0087 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0088 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0090 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0091 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0092 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0093 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0094 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0095 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0096 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0099 0/0 1 0 0 0 1 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0100 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0101 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0102 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0103 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0104 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0105 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0108 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0109 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0110 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0111 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0112 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0113 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0143 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0168 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0002g0176 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0004g0089 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0001t0005g0066 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0003t0001g0186 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0003t0001g0187 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0003t0001g0188 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0003t0001g0189 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0003t0001g0190 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0003t0001g0191 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0004t0001g0118 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0004t0001g0121 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0004t0003g0114 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0004t0003g0115 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0006t0001g0160 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0007t0002g0097 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0008t0001g0076 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0001c0010t0001g0155 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0002c0002t0001g0004 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0002c0002t0001g0005 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0002c0002t0001g0008 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0002c0002t0001g0009 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0002c0002t0001g0010 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0002c0002t0001g0011 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0002c0002t0001g0012 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0002c0002t0001g0013 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0002c0002t0001g0014 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0002c0002t0001g0071 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0002c0002t0001g0125 0/0 1 0 0 0 0 1 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0002c0002t0001g0131 0/0 1 0 0 1 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0002c0002t0001g0195 0/0 1 1 0 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0003c0005t0001g0163 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0003c0005t0001g0164 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
a0004c0009t0001g0197 0/0 1 0 1 0 0 0 EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0001 t0001 g0166 EUR GBR EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG00099 hp2 a0001 c0001 t0001 g0026 EUR GBR EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG00280 hp1 a0001 c0001 t0001 g0196 EUR FIN EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG00280 hp2 a0001 c0001 t0001 g0032 EUR FIN EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG00438 hp1 a0002 c0002 t0001 g0005 EAS CHS EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG00438 hp2 a0001 c0001 t0001 g0053 EAS CHS EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG00544 hp1 a0001 c0001 t0001 g0138 EAS CHS EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG00544 hp2 a0001 c0001 t0002 g0092 EAS CHS EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG00558 hp1 a0001 c0001 t0002 g0101 EAS CHS EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG00558 hp2 a0001 c0001 t0001 g0146 EAS CHS EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG00621 hp1 a0001 c0001 t0001 g0145 EAS CHS EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG00621 hp2 a0001 c0001 t0001 g0050 EAS CHS EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG00639 hp1 a0001 c0001 t0001 g0167 AMR PUR EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG00639 hp2 a0001 c0001 t0002 g0090 AMR PUR EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG00642 hp1 a0001 c0001 t0001 g0072 AMR PUR EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG00642 hp2 a0001 c0001 t0001 g0182 AMR PUR EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG00738 hp1 a0001 c0006 t0001 g0160 AMR PUR EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG00738 hp2 a0001 c0001 t0001 g0041 AMR PUR EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01070 hp1 a0001 c0007 t0002 g0097 AMR PUR EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01070 hp2 a0003 c0005 t0001 g0164 AMR PUR EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01071 hp1 a0003 c0005 t0001 g0163 AMR PUR EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01071 hp2 a0001 c0001 t0002 g0088 AMR PUR EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01074 hp1 a0001 c0001 t0001 g0031 AMR PUR EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01074 hp2 a0001 c0001 t0001 g0194 AMR PUR EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01167 hp1 a0001 c0001 t0001 g0124 AMR PUR EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01167 hp2 a0001 c0004 t0001 g0118 AMR PUR EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01175 hp1 a0001 c0001 t0001 g0039 AMR PUR EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01175 hp2 a0001 c0001 t0001 g0144 AMR PUR EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01243 hp1 a0001 c0001 t0002 g0111 AMR PUR EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01243 hp2 a0004 c0009 t0001 g0197 AMR PUR EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01256 hp1 a0001 c0001 t0001 g0002 AMR CLM EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01256 hp2 a0001 c0001 t0001 g0024 AMR CLM EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01257 hp1 a0001 c0001 t0001 g0139 AMR CLM EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01257 hp2 a0001 c0001 t0002 g0104 AMR CLM EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01258 hp1 a0001 c0001 t0001 g0003 AMR CLM EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01258 hp2 a0001 c0001 t0002 g0105 AMR CLM EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01261 hp1 a0001 c0001 t0001 g0075 AMR CLM EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01261 hp2 a0001 c0001 t0001 g0165 AMR CLM EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01346 hp1 a0001 c0001 t0001 g0171 AMR CLM EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01346 hp2 a0001 c0001 t0002 g0094 AMR CLM EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01361 hp1 a0001 c0001 t0001 g0007 AMR CLM EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01361 hp2 a0002 c0002 t0001 g0071 AMR CLM EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01496 hp1 a0001 c0001 t0001 g0028 AMR CLM EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01496 hp2 a0002 c0002 t0001 g0014 AMR CLM EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01515 hp1 a0001 c0001 t0001 g0038 EUR IBS EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01515 hp2 a0001 c0001 t0001 g0069 EUR IBS EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01884 hp1 a0001 c0001 t0001 g0035 AFR ACB EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01884 hp2 a0001 c0001 t0001 g0020 AFR ACB EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01981 hp1 a0001 c0001 t0002 g0037 AMR PEL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01981 hp2 a0001 c0001 t0001 g0098 AMR PEL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02015 hp1 a0001 c0001 t0001 g0177 EAS KHV EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02015 hp2 a0001 c0001 t0004 g0089 EAS KHV EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02040 hp1 a0001 c0001 t0002 g0086 EAS KHV EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02040 hp2 a0001 c0001 t0001 g0152 EAS KHV EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02071 hp1 a0001 c0001 t0001 g0147 EAS KHV EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02071 hp2 a0001 c0001 t0002 g0100 EAS KHV EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02135 hp1 a0001 c0001 t0001 g0174 EAS KHV EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02135 hp2 a0001 c0001 t0002 g0087 EAS KHV EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02145 hp1 a0001 c0001 t0002 g0112 AFR ACB EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02145 hp2 a0001 c0001 t0001 g0136 AFR ACB EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02155 hp1 a0001 c0001 t0001 g0157 EAS CDX EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02155 hp2 a0001 c0001 t0002 g0102 EAS CDX EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02165 hp1 a0001 c0001 t0001 g0015 EAS CDX EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02165 hp2 a0001 c0001 t0001 g0175 EAS CDX EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02258 hp1 a0001 c0001 t0001 g0025 AFR ACB EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02258 hp2 a0001 c0001 t0001 g0078 AFR ACB EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02280 hp1 a0001 c0001 t0001 g0061 AFR ACB EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02280 hp2 a0001 c0004 t0003 g0115 AFR ACB EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02293 hp1 a0001 c0001 t0002 g0103 AMR PEL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02293 hp2 a0001 c0001 t0001 g0178 AMR PEL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02300 hp1 a0001 c0001 t0002 g0113 AMR PEL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02300 hp2 a0001 c0001 t0001 g0070 AMR PEL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02602 hp1 a0002 c0002 t0001 g0125 SAS PJL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02602 hp2 a0001 c0001 t0001 g0149 SAS PJL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02622 hp1 a0001 c0001 t0001 g0159 AFR GWD EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02622 hp2 a0001 c0001 t0001 g0198 AFR GWD EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02698 hp1 a0001 c0001 t0002 g0096 SAS PJL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02698 hp2 a0001 c0001 t0001 g0073 SAS PJL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02717 hp1 a0001 c0001 t0001 g0079 AFR GWD EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02717 hp2 a0001 c0003 t0001 g0189 AFR GWD EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02735 hp1 a0001 c0001 t0001 g0126 SAS PJL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02735 hp2 a0001 c0001 t0001 g0074 SAS PJL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02809 hp1 a0001 c0001 t0001 g0043 AFR GWD EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02809 hp2 a0001 c0004 t0001 g0121 AFR GWD EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02818 hp1 a0001 c0001 t0001 g0116 AFR GWD EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02818 hp2 a0001 c0001 t0001 g0019 AFR GWD EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02886 hp1 a0002 c0002 t0001 g0195 AFR GWD EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02886 hp2 a0001 c0001 t0001 g0185 AFR GWD EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02922 hp1 a0001 c0001 t0001 g0120 AFR ESN EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02922 hp2 a0001 c0001 t0001 g0018 AFR ESN EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02965 hp1 a0001 c0001 t0001 g0036 AFR ESN EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02965 hp2 a0001 c0001 t0001 g0132 AFR ESN EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02970 hp1 a0001 c0001 t0001 g0134 AFR ESN EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02970 hp2 a0001 c0001 t0001 g0119 AFR ESN EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03017 hp1 a0001 c0001 t0001 g0033 SAS PJL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03017 hp2 a0001 c0001 t0001 g0142 SAS PJL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03098 hp1 a0001 c0001 t0001 g0123 AFR MSL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03098 hp2 a0001 c0001 t0005 g0066 AFR MSL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03130 hp1 a0001 c0003 t0001 g0188 AFR ESN EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03130 hp2 a0001 c0001 t0001 g0021 AFR ESN EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03139 hp1 a0001 c0001 t0001 g0065 AFR ESN EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03139 hp2 a0001 c0001 t0001 g0117 AFR ESN EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03195 hp1 a0001 c0001 t0001 g0077 AFR ESN EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03195 hp2 a0001 c0001 t0001 g0017 AFR ESN EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03239 hp1 a0001 c0001 t0001 g0029 SAS PJL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03239 hp2 a0001 c0001 t0001 g0130 SAS PJL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03453 hp1 a0001 c0001 t0001 g0183 AFR MSL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03453 hp2 a0001 c0001 t0001 g0181 AFR MSL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03490 hp1 a0001 c0001 t0001 g0030 SAS PJL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03490 hp2 a0002 c0002 t0001 g0010 SAS PJL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03491 hp1 a0001 c0001 t0001 g0170 SAS PJL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03491 hp2 a0001 c0001 t0001 g0022 SAS PJL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03492 hp1 a0001 c0001 t0001 g0023 SAS PJL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03492 hp2 a0002 c0002 t0001 g0009 SAS PJL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03540 hp1 a0001 c0001 t0001 g0067 AFR GWD EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03540 hp2 a0001 c0003 t0001 g0191 AFR GWD EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03704 hp1 a0001 c0001 t0002 g0091 SAS PJL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03704 hp2 a0001 c0010 t0001 g0155 SAS PJL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03710 hp1 a0001 c0001 t0002 g0176 SAS PJL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03710 hp2 a0001 c0001 t0001 g0173 SAS PJL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03831 hp1 a0001 c0001 t0001 g0034 SAS BEB EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03831 hp2 a0002 c0002 t0001 g0004 SAS BEB EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03927 hp1 a0001 c0001 t0001 g0169 SAS BEB EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03927 hp2 a0001 c0001 t0001 g0042 SAS BEB EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG04228 hp1 a0001 c0001 t0001 g0040 SAS STU EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG04228 hp2 a0001 c0001 t0001 g0193 SAS STU EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18612 hp1 a0001 c0001 t0001 g0006 EAS CHB EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18612 hp2 a0002 c0002 t0001 g0131 EAS CHB EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18747 hp1 a0001 c0001 t0001 g0150 EAS CHB EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18747 hp2 a0001 c0001 t0001 g0049 EAS CHB EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18906 hp1 a0001 c0003 t0001 g0190 AFR YRI EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18906 hp2 a0001 c0001 t0001 g0184 AFR YRI EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18951 hp1 a0001 c0001 t0002 g0081 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18951 hp2 a0001 c0001 t0001 g0127 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18952 hp1 a0001 c0001 t0001 g0192 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18952 hp2 a0001 c0001 t0001 g0059 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18954 hp1 a0002 c0002 t0001 g0008 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18954 hp2 a0001 c0001 t0002 g0084 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18960 hp1 a0001 c0001 t0001 g0106 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18960 hp2 a0001 c0001 t0002 g0168 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18962 hp1 a0001 c0001 t0001 g0055 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18962 hp2 a0001 c0001 t0001 g0156 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18963 hp1 a0001 c0001 t0001 g0107 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18963 hp2 a0001 c0001 t0002 g0143 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18972 hp1 a0001 c0001 t0001 g0045 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18972 hp2 a0001 c0001 t0001 g0161 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18984 hp1 a0001 c0001 t0002 g0080 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18984 hp2 a0001 c0001 t0001 g0060 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18989 hp1 a0001 c0001 t0001 g0162 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18989 hp2 a0001 c0001 t0002 g0095 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18992 hp1 a0001 c0001 t0001 g0158 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18992 hp2 a0001 c0001 t0002 g0109 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18995 hp1 a0002 c0002 t0001 g0011 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18995 hp2 a0001 c0001 t0001 g0052 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18998 hp1 a0001 c0001 t0002 g0082 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18998 hp2 a0001 c0001 t0001 g0140 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18999 hp1 a0001 c0001 t0001 g0129 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18999 hp2 a0001 c0001 t0001 g0048 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA19005 hp1 a0001 c0001 t0001 g0054 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA19005 hp2 a0001 c0001 t0001 g0180 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA19009 hp1 a0001 c0001 t0001 g0046 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA19009 hp2 a0001 c0001 t0001 g0148 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA19010 hp1 a0001 c0001 t0001 g0153 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA19010 hp2 a0001 c0001 t0001 g0027 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA19012 hp1 a0001 c0001 t0001 g0047 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA19012 hp2 a0001 c0001 t0002 g0093 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA19043 hp1 a0001 c0008 t0001 g0076 AFR LWK EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA19043 hp2 a0001 c0001 t0001 g0016 AFR LWK EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA19057 hp1 a0001 c0001 t0001 g0141 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA19057 hp2 a0001 c0001 t0001 g0051 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA19065 hp1 a0001 c0001 t0002 g0110 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA19065 hp2 a0001 c0001 t0001 g0154 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA19068 hp1 a0001 c0001 t0002 g0108 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA19068 hp2 a0001 c0001 t0001 g0137 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA19077 hp1 a0001 c0001 t0001 g0122 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA19077 hp2 a0002 c0002 t0001 g0012 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA19079 hp1 a0001 c0001 t0002 g0085 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA19079 hp2 a0001 c0001 t0001 g0128 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA19240 hp1 a0001 c0003 t0001 g0187 AFR YRI EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA19240 hp2 a0001 c0001 t0001 g0062 AFR YRI EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA20752 hp1 a0001 c0001 t0001 g0056 EUR TSI EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA20752 hp2 a0001 c0001 t0001 g0172 EUR TSI EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA20805 hp1 a0001 c0001 t0001 g0001 EUR TSI EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA20805 hp2 a0001 c0001 t0002 g0099 EUR TSI EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01123 hp1 a0002 c0002 t0001 g0013 AMR CLM EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG01123 hp2 a0001 c0001 t0001 g0179 AMR CLM EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02109 hp1 a0001 c0001 t0001 g0057 AFR ACB EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02109 hp2 a0001 c0001 t0001 g0063 AFR ACB EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02559 hp1 a0001 c0001 t0001 g0133 AFR ACB EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG02559 hp2 a0001 c0001 t0001 g0064 AFR ACB EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03471 hp1 a0001 c0001 t0001 g0044 AFR MSL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
HG03471 hp2 a0001 c0001 t0001 g0135 AFR MSL EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18955 hp1 a0001 c0001 t0002 g0083 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA18955 hp2 a0001 c0001 t0001 g0058 EAS JPT EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA20300 hp1 a0001 c0004 t0003 g0114 AFR USA EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
NA20300 hp2 a0001 c0003 t0001 g0186 AFR USA EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
homoSapiens_chm13v2 hp1 a0001 c0001 t0001 g0068 REF REF EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487
homoSapiens_grch38 hp1 a0001 c0001 t0001 g0151 REF REF EHBP1_chr2_62700713_63051487 EHBP1 chr2 62700713 63051487

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
chr2:62949004 A
A
 C
C
 2 a0002
a0004
a0002
a0004
 14 HG00438.hp1
HG01123.hp1
HG01243.hp2
others(11): Show 
HG00438.hp1
HG01123.hp1
HG01243.hp2
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 missense_variant MODERATE c.2158A>C
c.2158A>C
 p.Lys720Gln
p.Lys720Gln
 EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/23 2793/5105 2158/3483 720/1160 chr2 62949004
chr2:62955617 A
A
 G
G
 1 a0004
a0004
 1 HG01243.hp2
HG01243.hp2
 missense_variant MODERATE c.2417A>G
c.2417A>G
 p.Asn806Ser
p.Asn806Ser
 EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/23 3052/5105 2417/3483 806/1160 chr2 62955617
chr2:62993927 G
G
 T
T
 1 a0003
a0003
 2 HG01070.hp2
HG01071.hp1
HG01070.hp2
HG01071.hp1
 missense_variant MODERATE c.2929G>T
c.2929G>T
 p.Ala977Ser
p.Ala977Ser
 EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 18/23 3564/5105 2929/3483 977/1160 chr2 62993927

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
chr2:62771350 G
G
 A
A
 1 a0001c0006
a0001c0006
 1 HG00738.hp1
HG00738.hp1
 synonymous_variant LOW c.270G>A
c.270G>A
 p.Ala90Ala
p.Ala90Ala
 EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/23 905/5105 270/3483 90/1160 chr2 62771350
chr2:62831106 A
A
 G
G
 1 a0001c0010
a0001c0010
 1 HG03704.hp2
HG03704.hp2
 synonymous_variant LOW c.582A>G
c.582A>G
 p.Glu194Glu
p.Glu194Glu
 EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/23 1217/5105 582/3483 194/1160 chr2 62831106
chr2:62874514 T
T
 C
C
 1 a0001c0003
a0001c0003
 6 HG02717.hp2
HG03130.hp1
HG03540.hp2
others(3): Show 
HG02717.hp2
HG03130.hp1
HG03540.hp2
NA18906.hp1
NA19240.hp1
NA20300.hp2
 synonymous_variant LOW c.1167T>C
c.1167T>C
 p.Asp389Asp
p.Asp389Asp
 EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/23 1802/5105 1167/3483 389/1160 chr2 62874514
chr2:62942840 G
G
 A
A
 1 a0001c0007
a0001c0007
 1 HG01070.hp1
HG01070.hp1
 synonymous_variant LOW c.1308G>A
c.1308G>A
 p.Ser436Ser
p.Ser436Ser
 EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 11/23 1943/5105 1308/3483 436/1160 chr2 62942840
chr2:62948940 G
G
 A
A
 1 a0001c0008
a0001c0008
 1 NA19043.hp1
NA19043.hp1
 synonymous_variant LOW c.2094G>A
c.2094G>A
 p.Glu698Glu
p.Glu698Glu
 EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/23 2729/5105 2094/3483 698/1160 chr2 62948940
chr2:62996666 G
G
 A
A
 1 a0001c0004
a0001c0004
 4 HG01167.hp2
HG02280.hp2
HG02809.hp2
others(1): Show 
HG01167.hp2
HG02280.hp2
HG02809.hp2
NA20300.hp1
 synonymous_variant LOW c.3003G>A
c.3003G>A
 p.Gln1001Gln
p.Gln1001Gln
 EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/23 3638/5105 3003/3483 1001/1160 chr2 62996666

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
chr2:63045589 T
T
 C
C
 3 a0001c0001t0002
a0001c0001t0004
a0001c0007t0002
a0001c0001t0002
a0001c0001t0004
a0001c0007t0002
 35 HG00544.hp2
HG00558.hp1
HG00639.hp2
others(32): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG03704.hp1
HG03710.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18963.hp2
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18998.hp1
NA19012.hp2
NA19065.hp1
NA19068.hp1
NA19079.hp1
NA20805.hp2
 3_prime_UTR_variant MODIFIER c.*89T>C
c.*89T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 23/23 89 chr2 63045589
chr2:63045656 T
T
 G
G
 1 a0001c0001t0005
a0001c0001t0005
 1 HG03098.hp2
HG03098.hp2
 3_prime_UTR_variant MODIFIER c.*156T>G
c.*156T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 23/23 156 chr2 63045656
chr2:63046059 T
T
 C
C
 1 a0001c0004t0003
a0001c0004t0003
 2 HG02280.hp2
NA20300.hp1
HG02280.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*559T>C
c.*559T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 23/23 559 chr2 63046059
chr2:63046061 G
G
 A
A
 1 a0001c0001t0004
a0001c0001t0004
 1 HG02015.hp2
HG02015.hp2
 3_prime_UTR_variant MODIFIER c.*561G>A
c.*561G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 23/23 561 chr2 63046061

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
chr2:62706277 C
C
 T
T
 2 a0001c0001t0001g0198
a0004c0009t0001g0197
a0001c0001t0001g0198
a0004c0009t0001g0197
 2 HG01243.hp2
HG02622.hp2
HG01243.hp2
HG02622.hp2
 intron_variant MODIFIER c.-296+225C>T
c.-296+225C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 1/22 chr2 62706277
chr2:62706568 C
C
 G
G
 1 a0001c0001t0001g0196
a0001c0001t0001g0196
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.-295-329C>G
c.-295-329C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 1/22 chr2 62706568
chr2:62707483 T
T
 TA
TA
 3 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
 3 HG01256.hp1
HG01258.hp1
NA20805.hp1
HG01256.hp1
HG01258.hp1
NA20805.hp1
 intron_variant MODIFIER c.104+188_104+189ins
others(1): Show 
c.104+188_104+189insA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62707483
chr2:62707543 A
A
 G
G
 1 a0002c0002t0001g0195
a0002c0002t0001g0195
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.104+248A>G
c.104+248A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62707543
chr2:62707615 A
A
 G
G
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.104+320A>G
c.104+320A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62707615
chr2:62707830 T
T
 C
C
 11 a0001c0001t0001g0006
a0001c0001t0001g0007
a0002c0002t0001g0004
others(8): Show 
a0001c0001t0001g0006
a0001c0001t0001g0007
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
 11 HG00438.hp1
HG01123.hp1
HG01361.hp1
others(8): Show 
HG00438.hp1
HG01123.hp1
HG01361.hp1
HG01496.hp2
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp1
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.104+535T>C
c.104+535T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62707830
chr2:62708402 A
A
 G
G
 1 a0001c0001t0001g0193
a0001c0001t0001g0193
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.104+1107A>G
c.104+1107A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62708402
chr2:62708872 G
G
 A
A
 1 a0001c0001t0001g0015
a0001c0001t0001g0015
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.104+1577G>A
c.104+1577G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62708872
chr2:62708904 T
T
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.104+1609T>G
c.104+1609T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62708904
chr2:62708935 GAGTC
GAGTC
 G
G
 11 a0001c0001t0001g0006
a0001c0001t0001g0007
a0002c0002t0001g0004
others(8): Show 
a0001c0001t0001g0006
a0001c0001t0001g0007
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
 11 HG00438.hp1
HG01123.hp1
HG01361.hp1
others(8): Show 
HG00438.hp1
HG01123.hp1
HG01361.hp1
HG01496.hp2
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp1
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.104+1643_104+1646d
others(6): Show 
c.104+1643_104+1646delTCAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62708935
chr2:62709029 T
T
 C
C
 6 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
others(3): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
 6 HG01884.hp2
HG02818.hp2
HG02922.hp2
others(3): Show 
HG01884.hp2
HG02818.hp2
HG02922.hp2
HG03130.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.104+1734T>C
c.104+1734T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62709029
chr2:62709305 A
A
 G
G
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 NA18952.hp1
NA18952.hp1
 intron_variant MODIFIER c.104+2010A>G
c.104+2010A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62709305
chr2:62709310 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.104+2015A>G
c.104+2015A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62709310
chr2:62709319 G
G
 A
A
 21 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
others(18): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0002g0037
 21 HG00099.hp2
HG00280.hp2
HG00738.hp2
others(18): Show 
HG00099.hp2
HG00280.hp2
HG00738.hp2
HG01074.hp1
HG01175.hp1
HG01256.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG02258.hp1
HG02965.hp1
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA19010.hp2
 intron_variant MODIFIER c.104+2024G>A
c.104+2024G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62709319
chr2:62709356 GT
GT
 G
G
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.104+2062delT
c.104+2062delT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62709356
chr2:62709826 T
T
 C
C
 35 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(32): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0192
a0001c0001t0002g0037
 35 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(32): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00621.hp2
HG00738.hp2
HG01074.hp1
HG01175.hp1
HG01256.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG02165.hp1
HG02258.hp1
HG02965.hp1
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18952.hp1
NA18962.hp1
NA18972.hp1
NA18995.hp2
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19057.hp2
NA20752.hp1
 intron_variant MODIFIER c.104+2531T>C
c.104+2531T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62709826
chr2:62709834 C
C
 G
G
 1 a0001c0003t0001g0191
a0001c0003t0001g0191
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.104+2539C>G
c.104+2539C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62709834
chr2:62709888 T
T
 C
C
 1 a0001c0001t0001g0057
a0001c0001t0001g0057
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.104+2593T>C
c.104+2593T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62709888
chr2:62709945 T
T
 C
C
 3 a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
 3 NA18952.hp2
NA18955.hp2
NA18984.hp2
NA18952.hp2
NA18955.hp2
NA18984.hp2
 intron_variant MODIFIER c.104+2650T>C
c.104+2650T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62709945
chr2:62710082 T
T
 C
C
 7 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(4): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0005g0066
 7 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(4): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.104+2787T>C
c.104+2787T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62710082
chr2:62710296 A
A
 G
G
 6 a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
others(3): Show 
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
 6 HG02717.hp2
HG03130.hp1
HG03540.hp2
others(3): Show 
HG02717.hp2
HG03130.hp1
HG03540.hp2
NA18906.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.104+3001A>G
c.104+3001A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62710296
chr2:62710423 G
G
 A
A
 8 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(5): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0005g0066
a0004c0009t0001g0197
 8 HG01243.hp2
HG02109.hp2
HG02280.hp1
others(5): Show 
HG01243.hp2
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.104+3128G>A
c.104+3128G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62710423
chr2:62710487 A
A
 C
C
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.104+3192A>C
c.104+3192A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62710487
chr2:62710803 A
A
 G
G
 2 a0001c0001t0001g0198
a0004c0009t0001g0197
a0001c0001t0001g0198
a0004c0009t0001g0197
 2 HG01243.hp2
HG02622.hp2
HG01243.hp2
HG02622.hp2
 intron_variant MODIFIER c.104+3508A>G
c.104+3508A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62710803
chr2:62710807 A
A
 G
G
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.104+3512A>G
c.104+3512A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62710807
chr2:62711143 T
T
 G
G
 14 a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
others(11): Show 
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0002c0002t0001g0071
 14 HG00642.hp1
HG01261.hp1
HG01361.hp2
others(11): Show 
HG00642.hp1
HG01261.hp1
HG01361.hp2
HG01515.hp2
HG02300.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG03130.hp1
HG03540.hp2
NA18906.hp1
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.104+3848T>G
c.104+3848T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62711143
chr2:62711722 T
T
 C
C
 2 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0016
a0001c0001t0001g0017
 2 HG03195.hp2
NA19043.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.104+4427T>C
c.104+4427T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62711722
chr2:62712043 T
T
 C
C
 2 a0001c0001t0001g0198
a0004c0009t0001g0197
a0001c0001t0001g0198
a0004c0009t0001g0197
 2 HG01243.hp2
HG02622.hp2
HG01243.hp2
HG02622.hp2
 intron_variant MODIFIER c.104+4748T>C
c.104+4748T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62712043
chr2:62712098 A
A
 C
C
 2 a0001c0001t0001g0198
a0004c0009t0001g0197
a0001c0001t0001g0198
a0004c0009t0001g0197
 2 HG01243.hp2
HG02622.hp2
HG01243.hp2
HG02622.hp2
 intron_variant MODIFIER c.104+4803A>C
c.104+4803A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62712098
chr2:62712104 T
T
 C
C
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.104+4809T>C
c.104+4809T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62712104
chr2:62712182 G
G
 A
A
 1 a0002c0002t0001g0004
a0002c0002t0001g0004
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.104+4887G>A
c.104+4887G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62712182
chr2:62712262 G
G
 A
A
 79 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(76): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
 79 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(76): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03139.hp2
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.104+4967G>A
c.104+4967G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62712262
chr2:62712303 A
A
 G
G
 2 a0001c0001t0001g0198
a0004c0009t0001g0197
a0001c0001t0001g0198
a0004c0009t0001g0197
 2 HG01243.hp2
HG02622.hp2
HG01243.hp2
HG02622.hp2
 intron_variant MODIFIER c.104+5008A>G
c.104+5008A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62712303
chr2:62712727 G
G
 A
A
 1 a0001c0001t0001g0123
a0001c0001t0001g0123
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.104+5432G>A
c.104+5432G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62712727
chr2:62712793 G
G
 T
T
 1 a0001c0001t0001g0184
a0001c0001t0001g0184
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.104+5498G>T
c.104+5498G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62712793
chr2:62712916 A
A
 G
G
 1 a0001c0001t0001g0042
a0001c0001t0001g0042
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.104+5621A>G
c.104+5621A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62712916
chr2:62712990 A
A
 G
G
 2 a0001c0001t0001g0198
a0004c0009t0001g0197
a0001c0001t0001g0198
a0004c0009t0001g0197
 2 HG01243.hp2
HG02622.hp2
HG01243.hp2
HG02622.hp2
 intron_variant MODIFIER c.104+5695A>G
c.104+5695A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62712990
chr2:62713090 A
A
 G
G
 1 a0001c0001t0001g0122
a0001c0001t0001g0122
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.104+5795A>G
c.104+5795A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62713090
chr2:62713176 A
A
 G
G
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.104+5881A>G
c.104+5881A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62713176
chr2:62713253 CT
CT
 C
C
 26 a0001c0001t0001g0098
a0001c0001t0001g0122
a0001c0001t0001g0124
others(23): Show 
a0001c0001t0001g0098
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0004g0089
a0001c0007t0002g0097
a0002c0002t0001g0004
 26 HG00544.hp2
HG00558.hp1
HG00639.hp2
others(23): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp2
HG01167.hp1
HG01346.hp2
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02155.hp2
HG02698.hp1
HG03704.hp1
HG03831.hp2
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18984.hp1
NA18989.hp2
NA18998.hp1
NA19012.hp2
NA19077.hp1
NA19079.hp1
NA20805.hp2
 intron_variant MODIFIER c.104+5975delT
c.104+5975delT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62713253
chr2:62713457 T
T
 G
G
 8 a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0002g0103
others(5): Show 
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
 8 HG01257.hp2
HG01258.hp2
HG02293.hp1
others(5): Show 
HG01257.hp2
HG01258.hp2
HG02293.hp1
NA18960.hp1
NA18963.hp1
NA18992.hp2
NA19065.hp1
NA19068.hp1
 intron_variant MODIFIER c.104+6162T>G
c.104+6162T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62713457
chr2:62713845 T
T
 A
A
 7 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(4): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0005g0066
 7 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(4): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.104+6550T>A
c.104+6550T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62713845
chr2:62714146 G
G
 A
A
 1 a0001c0003t0001g0191
a0001c0003t0001g0191
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.104+6851G>A
c.104+6851G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62714146
chr2:62714290 C
C
 G
G
 1 a0002c0002t0001g0014
a0002c0002t0001g0014
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.104+6995C>G
c.104+6995C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62714290
chr2:62714363 T
T
 G
G
 2 a0001c0001t0001g0198
a0004c0009t0001g0197
a0001c0001t0001g0198
a0004c0009t0001g0197
 2 HG01243.hp2
HG02622.hp2
HG01243.hp2
HG02622.hp2
 intron_variant MODIFIER c.104+7068T>G
c.104+7068T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62714363
chr2:62714528 A
A
 T
T
 1 a0002c0002t0001g0195
a0002c0002t0001g0195
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.104+7233A>T
c.104+7233A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62714528
chr2:62715452 T
T
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.104+8157T>G
c.104+8157T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62715452
chr2:62715705 C
C
 T
T
 83 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(80): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 83 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(80): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp2
HG01256.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp2
HG02622.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18962.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.104+8410C>T
c.104+8410C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62715705
chr2:62715847 G
G
 A
A
 2 a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0004t0003g0114
a0001c0004t0003g0115
 2 HG02280.hp2
NA20300.hp1
HG02280.hp2
NA20300.hp1
 intron_variant MODIFIER c.104+8552G>A
c.104+8552G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62715847
chr2:62715927 A
A
 G
G
 9 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(6): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0198
a0001c0001t0005g0066
a0004c0009t0001g0197
 9 HG01243.hp2
HG02109.hp2
HG02280.hp1
others(6): Show 
HG01243.hp2
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02622.hp2
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.104+8632A>G
c.104+8632A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62715927
chr2:62715948 C
C
 T
T
 2 a0001c0001t0001g0057
a0001c0001t0001g0183
a0001c0001t0001g0057
a0001c0001t0001g0183
 2 HG02109.hp1
HG03453.hp1
HG02109.hp1
HG03453.hp1
 intron_variant MODIFIER c.104+8653C>T
c.104+8653C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62715948
chr2:62716189 C
C
 T
T
 1 a0001c0001t0001g0182
a0001c0001t0001g0182
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.104+8894C>T
c.104+8894C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62716189
chr2:62716555 C
C
 T
T
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.104+9260C>T
c.104+9260C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62716555
chr2:62716667 G
G
 A
A
 1 a0002c0002t0001g0125
a0002c0002t0001g0125
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.104+9372G>A
c.104+9372G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62716667
chr2:62717006 G
G
 A
A
 3 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
 3 HG02818.hp1
HG02886.hp2
HG03139.hp2
HG02818.hp1
HG02886.hp2
HG03139.hp2
 intron_variant MODIFIER c.104+9711G>A
c.104+9711G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62717006
chr2:62717417 A
A
 G
G
 1 a0001c0001t0001g0180
a0001c0001t0001g0180
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.104+10122A>G
c.104+10122A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62717417
chr2:62717687 C
C
 T
T
 1 a0001c0001t0001g0041
a0001c0001t0001g0041
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.104+10392C>T
c.104+10392C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62717687
chr2:62717716 T
T
 A
A
 1 a0001c0001t0001g0068
a0001c0001t0001g0068
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.104+10421T>A
c.104+10421T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62717716
chr2:62717862 T
T
 TA
TA
 2 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0022
a0001c0001t0001g0023
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.104+10568dupA
c.104+10568dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62717862
chr2:62718132 A
A
 T
T
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.104+10837A>T
c.104+10837A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62718132
chr2:62718570 G
G
 T
T
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.104+11275G>T
c.104+11275G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62718570
chr2:62718801 T
T
 C
C
 3 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
 3 HG02818.hp1
HG02886.hp2
HG03139.hp2
HG02818.hp1
HG02886.hp2
HG03139.hp2
 intron_variant MODIFIER c.104+11506T>C
c.104+11506T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62718801
chr2:62718847 G
G
 A
A
 9 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(6): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0198
a0001c0001t0005g0066
a0004c0009t0001g0197
 9 HG01243.hp2
HG02109.hp2
HG02280.hp1
others(6): Show 
HG01243.hp2
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02622.hp2
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.104+11552G>A
c.104+11552G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62718847
chr2:62718954 T
T
 G
G
 2 a0001c0001t0001g0198
a0004c0009t0001g0197
a0001c0001t0001g0198
a0004c0009t0001g0197
 2 HG01243.hp2
HG02622.hp2
HG01243.hp2
HG02622.hp2
 intron_variant MODIFIER c.104+11659T>G
c.104+11659T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62718954
chr2:62718979 AT
AT
 A
A
 5 a0001c0001t0001g0058
a0001c0001t0002g0080
a0001c0001t0002g0081
others(2): Show 
a0001c0001t0001g0058
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0004t0001g0118
a0004c0009t0001g0197
 5 HG01167.hp2
HG01243.hp2
NA18951.hp1
others(2): Show 
HG01167.hp2
HG01243.hp2
NA18951.hp1
NA18955.hp2
NA18984.hp1
 intron_variant MODIFIER c.104+11703delT
c.104+11703delT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62718979
chr2:62719181 G
G
 A
A
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.104+11886G>A
c.104+11886G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62719181
chr2:62719509 A
A
 C
C
 3 a0001c0001t0001g0124
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0124
a0001c0001t0001g0178
a0001c0001t0001g0179
 3 HG01123.hp2
HG01167.hp1
HG02293.hp2
HG01123.hp2
HG01167.hp1
HG02293.hp2
 intron_variant MODIFIER c.104+12214A>C
c.104+12214A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62719509
chr2:62719523 A
A
 G
G
 74 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(71): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0004g0089
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
 74 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(71): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01256.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18962.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19077.hp1
NA19079.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.104+12228A>G
c.104+12228A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62719523
chr2:62719742 A
A
 G
G
 1 a0001c0001t0001g0177
a0001c0001t0001g0177
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.104+12447A>G
c.104+12447A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62719742
chr2:62720032 G
G
 C
C
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.104+12737G>C
c.104+12737G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62720032
chr2:62720342 G
G
 A
A
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.104+13047G>A
c.104+13047G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62720342
chr2:62720765 C
C
 T
T
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.104+13470C>T
c.104+13470C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62720765
chr2:62720809 C
C
 G
G
 1 a0001c0001t0002g0176
a0001c0001t0002g0176
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.104+13514C>G
c.104+13514C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62720809
chr2:62720823 T
T
 C
C
 4 a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
others(1): Show 
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
 4 HG01884.hp2
HG02818.hp2
HG02922.hp2
others(1): Show 
HG01884.hp2
HG02818.hp2
HG02922.hp2
HG03130.hp2
 intron_variant MODIFIER c.104+13528T>C
c.104+13528T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62720823
chr2:62721026 AG
AG
 A
A
 82 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 82 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(79): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01243.hp2
HG01256.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp2
HG02622.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18962.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.104+13733delG
c.104+13733delG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62721026
chr2:62721587 G
G
 C
C
 9 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(6): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0198
a0001c0001t0005g0066
a0004c0009t0001g0197
 9 HG01243.hp2
HG02109.hp2
HG02280.hp1
others(6): Show 
HG01243.hp2
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02622.hp2
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.104+14292G>C
c.104+14292G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62721587
chr2:62721602 T
T
 G
G
 1 a0001c0001t0001g0126
a0001c0001t0001g0126
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.104+14307T>G
c.104+14307T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62721602
chr2:62721705 A
A
 G
G
 2 a0001c0001t0001g0198
a0004c0009t0001g0197
a0001c0001t0001g0198
a0004c0009t0001g0197
 2 HG01243.hp2
HG02622.hp2
HG01243.hp2
HG02622.hp2
 intron_variant MODIFIER c.104+14410A>G
c.104+14410A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62721705
chr2:62721825 A
A
 G
G
 1 a0001c0001t0001g0175
a0001c0001t0001g0175
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.104+14530A>G
c.104+14530A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62721825
chr2:62721979 A
A
 G
G
 1 a0001c0001t0001g0067
a0001c0001t0001g0067
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.104+14684A>G
c.104+14684A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62721979
chr2:62722012 T
T
 A
A
 1 a0001c0001t0001g0127
a0001c0001t0001g0127
 1 NA18951.hp2
NA18951.hp2
 intron_variant MODIFIER c.104+14717T>A
c.104+14717T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62722012
chr2:62722248 C
C
 T
T
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.104+14953C>T
c.104+14953C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62722248
chr2:62722352 C
C
 T
T
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.104+15057C>T
c.104+15057C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62722352
chr2:62722433 AT
AT
 A
A
 7 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(4): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0024
a0001c0001t0001g0045
a0001c0001t0001g0062
a0001c0003t0001g0186
 7 HG01256.hp1
HG01256.hp2
HG01258.hp1
others(4): Show 
HG01256.hp1
HG01256.hp2
HG01258.hp1
NA18972.hp1
NA19240.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.104+15151delT
c.104+15151delT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62722433
chr2:62722818 G
G
 A
A
 1 a0001c0001t0002g0080
a0001c0001t0002g0080
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.104+15523G>A
c.104+15523G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62722818
chr2:62723136 C
C
 T
T
 2 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0116
a0001c0001t0001g0117
 2 HG02818.hp1
HG03139.hp2
HG02818.hp1
HG03139.hp2
 intron_variant MODIFIER c.104+15841C>T
c.104+15841C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62723136
chr2:62723200 C
C
 T
T
 7 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(4): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0005g0066
 7 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(4): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.104+15905C>T
c.104+15905C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62723200
chr2:62723300 A
A
 G
G
 35 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(32): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0192
a0001c0001t0002g0037
 35 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(32): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00621.hp2
HG00738.hp2
HG01074.hp1
HG01175.hp1
HG01256.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG02165.hp1
HG02258.hp1
HG02965.hp1
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18952.hp1
NA18962.hp1
NA18972.hp1
NA18995.hp2
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19057.hp2
NA20752.hp1
 intron_variant MODIFIER c.104+16005A>G
c.104+16005A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62723300
chr2:62723428 T
T
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.104+16133T>G
c.104+16133T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62723428
chr2:62723850 A
A
 G
G
 1 a0001c0001t0002g0102
a0001c0001t0002g0102
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.104+16555A>G
c.104+16555A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62723850
chr2:62724023 G
G
 T
T
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.104+16728G>T
c.104+16728G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62724023
chr2:62724082 A
A
 T
T
 1 a0001c0004t0001g0121
a0001c0004t0001g0121
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.104+16787A>T
c.104+16787A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62724082
chr2:62724801 C
C
 T
T
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.104+17506C>T
c.104+17506C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62724801
chr2:62724860 T
T
 A
A
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.104+17565T>A
c.104+17565T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62724860
chr2:62725054 G
G
 A
A
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.104+17759G>A
c.104+17759G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62725054
chr2:62725249 TTGTGCCT
others(8): Show 
TTGTGCCTTATTTGCA
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.104+17962_104+1797
others(19): Show 
c.104+17962_104+17976delTATTTGCATGTGCCT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62725249
chr2:62725337 A
A
 G
G
 1 a0001c0001t0001g0179
a0001c0001t0001g0179
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.104+18042A>G
c.104+18042A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62725337
chr2:62725539 C
C
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.104+18244C>T
c.104+18244C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62725539
chr2:62725805 G
G
 T
T
 1 a0001c0001t0002g0101
a0001c0001t0002g0101
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.104+18510G>T
c.104+18510G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62725805
chr2:62726031 G
G
 A
A
 93 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(90): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 93 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(90): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.104+18736G>A
c.104+18736G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62726031
chr2:62726641 A
A
 G
G
 1 a0001c0001t0001g0173
a0001c0001t0001g0173
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.104+19346A>G
c.104+19346A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62726641
chr2:62726775 C
C
 T
T
 17 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(14): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0006t0001g0160
a0003c0005t0001g0163
a0003c0005t0001g0164
 17 HG00099.hp1
HG00639.hp1
HG00738.hp1
others(14): Show 
HG00099.hp1
HG00639.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG03491.hp1
HG03710.hp1
HG03927.hp1
NA18960.hp2
NA18972.hp2
NA18989.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.104+19480C>T
c.104+19480C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62726775
chr2:62726974 T
T
 G
G
 2 a0001c0001t0001g0122
a0001c0001t0002g0080
a0001c0001t0001g0122
a0001c0001t0002g0080
 2 NA18984.hp1
NA19077.hp1
NA18984.hp1
NA19077.hp1
 intron_variant MODIFIER c.104+19679T>G
c.104+19679T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62726974
chr2:62726982 C
C
 T
T
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.104+19687C>T
c.104+19687C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62726982
chr2:62727023 C
C
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.104+19728C>T
c.104+19728C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62727023
chr2:62727157 G
G
 A
A
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.104+19862G>A
c.104+19862G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62727157
chr2:62727178 A
A
 G
G
 1 a0001c0001t0001g0173
a0001c0001t0001g0173
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.104+19883A>G
c.104+19883A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62727178
chr2:62727191 C
C
 T
T
 76 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(73): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
 76 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(73): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02809.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.104+19896C>T
c.104+19896C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62727191
chr2:62727575 G
G
 A
A
 2 a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0128
a0001c0001t0001g0129
 2 NA18999.hp1
NA19079.hp2
NA18999.hp1
NA19079.hp2
 intron_variant MODIFIER c.105-19820G>A
c.105-19820G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62727575
chr2:62727609 A
A
 T
T
 1 a0001c0001t0001g0159
a0001c0001t0001g0159
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.105-19786A>T
c.105-19786A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62727609
chr2:62727791 C
C
 T
T
 1 a0001c0001t0002g0110
a0001c0001t0002g0110
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.105-19604C>T
c.105-19604C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62727791
chr2:62727804 T
T
 C
C
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.105-19591T>C
c.105-19591T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62727804
chr2:62727837 T
T
 G
G
 1 a0001c0003t0001g0191
a0001c0003t0001g0191
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.105-19558T>G
c.105-19558T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62727837
chr2:62728221 C
C
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.105-19174C>T
c.105-19174C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62728221
chr2:62728227 AG
AG
 A
A
 14 a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
others(11): Show 
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0002c0002t0001g0071
 14 HG00642.hp1
HG01261.hp1
HG01361.hp2
others(11): Show 
HG00642.hp1
HG01261.hp1
HG01361.hp2
HG01515.hp2
HG02300.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG03130.hp1
HG03540.hp2
NA18906.hp1
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.105-19166delG
c.105-19166delG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62728227
chr2:62728252 A
A
 G
G
 78 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(75): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
 78 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(75): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02809.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.105-19143A>G
c.105-19143A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62728252
chr2:62728421 A
A
 C
C
 1 a0001c0001t0002g0102
a0001c0001t0002g0102
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.105-18974A>C
c.105-18974A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62728421
chr2:62728441 T
T
 C
C
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.105-18954T>C
c.105-18954T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62728441
chr2:62728730 T
T
 A
A
 1 a0001c0001t0001g0130
a0001c0001t0001g0130
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.105-18665T>A
c.105-18665T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62728730
chr2:62728742 A
A
 G
G
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.105-18653A>G
c.105-18653A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62728742
chr2:62728804 GTTGTGCC
others(69): Show 
GTTGTGCCTTCTTAGACTTTGCCTAACCCAAAGTCACAAAGATTTACTAC
TTCTATTTTTTATAAGAGTTTTATAAT
 G
G
 1 a0001c0001t0001g0158
a0001c0001t0001g0158
 1 NA18992.hp1
NA18992.hp1
 intron_variant MODIFIER c.105-18588_105-1851
others(80): Show 
c.105-18588_105-18513delGTGCCTTCTTAGACTTTGCCTAACCC
AAAGTCACAAAGATTTACTACTTCTATTTTTTATAAGAGTTTTATAATTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62728804
chr2:62729385 C
C
 A
A
 93 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(90): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 93 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(90): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.105-18010C>A
c.105-18010C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62729385
chr2:62729390 T
T
 A
A
 93 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(90): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 93 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(90): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.105-18005T>A
c.105-18005T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62729390
chr2:62729432 A
A
 AATAATAA
others(2): Show 
AATAATAAAT
 93 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(90): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 93 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(90): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.105-17955_105-1794
others(13): Show 
c.105-17955_105-17947dupATATAATAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62729432
chr2:62729466 A
A
 C
C
 1 a0001c0001t0001g0196
a0001c0001t0001g0196
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.105-17929A>C
c.105-17929A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62729466
chr2:62729514 A
A
 AATATAAT
others(2): Show 
AATATAATAT
 107 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(104): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0002c0002t0001g0071
a0004c0009t0001g0197
 107 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(104): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02559.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18906.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.105-17880_105-1787
others(13): Show 
c.105-17880_105-17879insTATAATATA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62729514
chr2:62729525 T
T
 A
A
 1 a0001c0001t0001g0126
a0001c0001t0001g0126
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.105-17870T>A
c.105-17870T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62729525
chr2:62729528 A
A
 G
G
 1 a0001c0001t0005g0066
a0001c0001t0005g0066
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.105-17867A>G
c.105-17867A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62729528
chr2:62729597 TA
TA
 T
T
 7 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(4): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0005g0066
 7 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(4): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.105-17796delA
c.105-17796delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62729597
chr2:62729615 TAAATA
TAAATA
 T
T
 3 a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
 3 HG02040.hp2
NA19010.hp1
NA19065.hp2
HG02040.hp2
NA19010.hp1
NA19065.hp2
 intron_variant MODIFIER c.105-17758_105-1775
others(9): Show 
c.105-17758_105-17754delAATAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62729615
chr2:62729615 TAAATAAA
others(3): Show 
TAAATAAAATA
 T
T
 6 a0001c0001t0001g0127
a0001c0001t0001g0156
a0001c0001t0001g0157
others(3): Show 
a0001c0001t0001g0127
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0173
a0001c0001t0001g0196
a0001c0010t0001g0155
 6 HG00280.hp1
HG02155.hp1
HG03704.hp2
others(3): Show 
HG00280.hp1
HG02155.hp1
HG03704.hp2
HG03710.hp2
NA18951.hp2
NA18962.hp2
 intron_variant MODIFIER c.105-17763_105-1775
others(14): Show 
c.105-17763_105-17754delAATAAAATAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62729615
chr2:62729637 A
A
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.105-17758A>T
c.105-17758A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62729637
chr2:62729783 A
A
 G
G
 1 a0001c0003t0001g0190
a0001c0003t0001g0190
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.105-17612A>G
c.105-17612A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62729783
chr2:62729918 T
T
 C
C
 2 a0001c0001t0001g0198
a0004c0009t0001g0197
a0001c0001t0001g0198
a0004c0009t0001g0197
 2 HG01243.hp2
HG02622.hp2
HG01243.hp2
HG02622.hp2
 intron_variant MODIFIER c.105-17477T>C
c.105-17477T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62729918
chr2:62730106 T
T
 C
C
 2 a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0018
a0001c0001t0001g0019
 2 HG02818.hp2
HG02922.hp2
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.105-17289T>C
c.105-17289T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62730106
chr2:62730141 G
G
 T
T
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.105-17254G>T
c.105-17254G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62730141
chr2:62730203 C
C
 T
T
 1 a0001c0001t0001g0075
a0001c0001t0001g0075
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.105-17192C>T
c.105-17192C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62730203
chr2:62730771 C
C
 CAGAT
CAGAT
 94 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(91): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 94 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(91): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02559.hp2
HG02622.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.105-16623_105-1662
others(8): Show 
c.105-16623_105-16622insGATA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730771
chr2:62730841 C
C
 T
T
 1 a0001c0001t0002g0102
a0001c0001t0002g0102
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.105-16554C>T
c.105-16554C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62730841
chr2:62730862 G
G
 GCAGACAG
others(762): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGACAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGA
GACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGA
GAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGA
GAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGA
ATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAG
ACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAG
AGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGA
GAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGA
CAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACA
CACACACACACACACACACA
 2 a0001c0001t0001g0057
a0001c0001t0001g0183
a0001c0001t0001g0057
a0001c0001t0001g0183
 2 HG02109.hp1
HG03453.hp1
HG02109.hp1
HG03453.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(773): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGACAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGA
GAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGA
CAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGA
CAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAG
AGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGAC
AGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGA
GAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGA
CAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACA
CACACACACACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(758): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACACAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGA
GACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGA
GAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGA
GAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGA
ATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAG
ACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAG
AGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGA
GAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGA
CAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACA
CACACACACACACACA
 1 a0001c0001t0001g0158
a0001c0001t0001g0158
 1 NA18992.hp1
NA18992.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(769): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACACAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGA
GAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGA
CAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGA
CAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAG
AGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGAC
AGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGA
GAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGA
CAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACA
CACACACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(734): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGACAGAGACAGGCAGA
GAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGAGAGAGAGA
CAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAAACAGACAGACAGG
GAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGAC
ACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGGAGAGAGAGAGAG
AGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATAAGACAGAAGACA
GACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACAGAAAGAGACAGA
CAAAGACAGAGACGGACAGAGAGAGACAGAGACAGAGAGAGACAGAGAGA
GAGAGAGAGAAACACACACACACACACACACACACACACACA
 1 a0001c0001t0001g0026
a0001c0001t0001g0026
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(745): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACA
GGCAGAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGA
GAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAAT
AAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGAC
AGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAG
AATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGA
GACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACA
GAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACA
CACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(732): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGACAGAGACAGGCAGA
GAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGAGAGAGAGA
CAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGAAACAGACAGA
CAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAAGACAGAAGAC
AGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGGAGAGAGAG
AGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATAAGACAGAA
GACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACAGAAAGAGA
CAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACAGAGAGAGACAGA
GAGAGAGAGAGAGAAACACACACACACACACACACACACA
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(743): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACA
GGCAGAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGA
GAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGA
GAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGAC
AGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAA
AGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACA
GAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGA
GACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACA
CACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(738): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGACAGAGACAGGCAGA
GAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGAGAGAGAGA
CAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGAAACAGACAGA
CAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAAGACAGAAGAC
AGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGGAGAGAGAG
AGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATAAGACAGAA
GACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACAGAAAGAGA
CAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACAGAGAGAGACAGA
GAGAGAGAGAGAGAAACACACACACACACACACACACACACACACA
 29 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(26): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0192
 29 HG00280.hp2
HG00438.hp2
HG00621.hp2
others(26): Show 
HG00280.hp2
HG00438.hp2
HG00621.hp2
HG00738.hp2
HG01074.hp1
HG01175.hp1
HG01256.hp2
HG01496.hp1
HG02165.hp1
HG02258.hp1
HG02922.hp1
HG02970.hp2
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18952.hp1
NA18962.hp1
NA18995.hp2
NA18999.hp2
NA19005.hp1
NA19010.hp2
NA19057.hp2
NA20752.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(749): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACA
GGCAGAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGA
GAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGA
GAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGAC
AGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAA
AGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACA
GAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGA
GACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACA
CACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(740): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGACAGAGACAGGCAGA
GAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGAGAGAGAGA
CAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGAAACAGACAGA
CAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAAGACAGAAGAC
AGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGGAGAGAGAG
AGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATAAGACAGAA
GACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACAGAAAGAGA
CAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACAGAGAGAGACAGA
GAGAGAGAGAGAGAAACACACACACACACACACACACACACACACACA
 3 a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
 3 NA18972.hp1
NA19009.hp1
NA19012.hp1
NA18972.hp1
NA19009.hp1
NA19012.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(751): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACA
GGCAGAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGA
GAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGA
GAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGAC
AGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAA
AGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACA
GAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGA
GACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACA
CACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(738): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGACAGAGACAGGCAGA
GAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGAGAGAGAGA
CAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGAAACAGACAGA
CAGGGAGAGAGAGAGACTGACCGGCAGAGAAAGAGAATAAGACAGAAGAC
AGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGGAGAGAGAG
AGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATAAGACAGAA
GACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACAGAAAGAGA
CAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACAGAGAGAGACAGA
GAGAGAGAGAGAGAAACACACACACACACACACACACACACACACA
 2 a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0035
a0001c0001t0001g0036
 2 HG01884.hp1
HG02965.hp1
HG01884.hp1
HG02965.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(749): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACA
GGCAGAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGA
GAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACCGGCAGAGAAAGA
GAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGAC
AGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAA
AGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACA
GAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGA
GACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACA
CACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(752): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGACAGAGACA
GGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGAGA
GAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGA
AACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAA
GACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAG
GGAGAGAGAGAGAGAGACTGACAGACAGACAGGCAGAGAAAGAGAATAAG
ACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACAGA
AAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACAGAGAGA
GACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACACACACA
CACACACACA
 1 a0001c0001t0001g0063
a0001c0001t0001g0063
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(763): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGA
GAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGG
CAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGG
CAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAG
AGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGGC
AGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACA
GAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGA
GACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACA
CACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(742): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGACAGAGACA
GGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGAGA
GAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGAAACA
GACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAAGACA
GAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGGAG
AGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATAAG
ACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACAGA
AAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACAGAGAGA
GACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACACACACA
 12 a0001c0001t0001g0098
a0001c0001t0002g0081
a0001c0001t0002g0090
others(9): Show 
a0001c0001t0001g0098
a0001c0001t0002g0081
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0102
a0001c0007t0002g0097
 12 HG00544.hp2
HG00639.hp2
HG01070.hp1
others(9): Show 
HG00544.hp2
HG00639.hp2
HG01070.hp1
HG01346.hp2
HG01981.hp2
HG02155.hp2
HG02698.hp1
HG03704.hp1
NA18951.hp1
NA18989.hp2
NA19012.hp2
NA20805.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(753): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGA
GAGACAGGCAGAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGA
GAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGA
GAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAG
ACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGC
AGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACA
GAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGA
GACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACA
CACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(744): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGACAGAGACA
GGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGAGA
GAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGAAACA
GACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAAGACA
GAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGGAG
AGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATAAG
ACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACAGA
AAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACAGAGAGA
GACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACACACACA
CA
 17 a0001c0001t0001g0122
a0001c0001t0002g0082
a0001c0001t0002g0083
others(14): Show 
a0001c0001t0001g0122
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0101
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
 17 HG00558.hp1
HG01071.hp2
HG01243.hp1
others(14): Show 
HG00558.hp1
HG01071.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG02015.hp2
HG02040.hp1
HG02135.hp2
HG02145.hp1
HG02293.hp1
HG02300.hp1
NA18954.hp2
NA18955.hp1
NA18998.hp1
NA19065.hp1
NA19077.hp1
NA19079.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(755): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGA
GAGACAGGCAGAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGA
GAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGA
GAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAG
ACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGC
AGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACA
GAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGA
GACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACA
CACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(746): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGACAGAGACA
GGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGAGA
GAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGAAACA
GACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAAGACA
GAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGGAG
AGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATAAG
ACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACAGA
AAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACAGAGAGA
GACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACACACACA
CACA
 1 a0001c0001t0002g0080
a0001c0001t0002g0080
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(757): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGA
GAGACAGGCAGAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGA
GAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGA
GAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAG
ACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGC
AGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACA
GAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGA
GACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACA
CACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(744): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGACAGAGACA
GGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGAGA
GAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGAAACA
GACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAAGACA
GAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGGAG
AGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATAAG
ACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACAGA
AAGAGACAGACAAAGACAGAGATGGACAGAGAGAGACAGAGACAGAGAGA
GACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACACACACA
CA
 3 a0001c0001t0001g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0001g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
 3 NA18963.hp1
NA18992.hp2
NA19068.hp1
NA18963.hp1
NA18992.hp2
NA19068.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(755): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGA
GAGACAGGCAGAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGA
GAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGA
GAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAG
ACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGC
AGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACA
GAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGATGGACAGAGAGA
GACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACA
CACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(746): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGACAGAGACA
GGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGAGA
GAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGAAACA
GACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAAGACA
GAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGGAG
AGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATAAG
ACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACAGA
AAGAGACAGACAAAGACAGAGATGGACAGAGAGAGACAGAGACAGAGAGA
GACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACACACACA
CACA
 1 a0001c0001t0001g0106
a0001c0001t0001g0106
 1 NA18960.hp1
NA18960.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(757): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGA
GAGACAGGCAGAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGA
GAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGA
GAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAG
ACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGC
AGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACA
GAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGATGGACAGAGAGA
GACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACA
CACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(746): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGA
CAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGA
GAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGAAA
CAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAAGA
CAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGG
AGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATA
AGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACA
GAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACAGAGA
GAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACACACA
CACA
 2 a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0004t0003g0114
a0001c0004t0003g0115
 2 HG02280.hp2
NA20300.hp1
HG02280.hp2
NA20300.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(757): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGA
GAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCA
GAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCA
GAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAG
AGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAG
GCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGA
CAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGA
GAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACA
CACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(748): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGA
CAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGA
GAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGAAA
CAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAAGA
CAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGG
AGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATA
AGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACA
GAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACAGAGA
GAGACAGAGAGAGAGAGAGAGAGAAACACACACACACACACACACACACA
CACACA
 2 a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0001g0118
a0001c0004t0001g0121
 2 HG01167.hp2
HG02809.hp2
HG01167.hp2
HG02809.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(759): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGA
GAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCA
GAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCA
GAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAG
AGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAG
GCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGA
CAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGA
GAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAGAAACACACACA
CACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(750): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGA
GACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGA
GAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGA
GAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGA
ATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAG
ACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAG
AGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGA
GAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGA
CAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACA
CACACACA
 2 a0001c0001t0001g0044
a0001c0001t0001g0117
a0001c0001t0001g0044
a0001c0001t0001g0117
 2 HG03139.hp2
HG03471.hp1
HG03139.hp2
HG03471.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(761): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGA
GAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGA
CAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGA
CAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAG
AGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGAC
AGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGA
GAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGA
CAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACA
CACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(752): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGA
GACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGA
GAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGA
GAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGA
ATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAG
ACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAG
AGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGA
GAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGA
CAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACA
CACACACACA
 1 a0001c0001t0001g0116
a0001c0001t0001g0116
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(763): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGA
GAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGA
CAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGA
CAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAG
AGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGAC
AGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGA
GAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGA
CAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACA
CACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(754): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGA
GACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGA
GAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGA
GAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGA
ATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAG
ACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAG
AGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGA
GAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGA
CAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACA
CACACACACACA
 2 a0001c0001t0001g0061
a0001c0001t0001g0077
a0001c0001t0001g0061
a0001c0001t0001g0077
 2 HG02280.hp1
HG03195.hp1
HG02280.hp1
HG03195.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(765): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGA
GAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGA
CAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGA
CAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAG
AGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGAC
AGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGA
GAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGA
CAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACA
CACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(756): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGA
GACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGA
GAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGA
GAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGA
ATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAG
ACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAG
AGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGA
GAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGA
CAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACA
CACACACACACACA
 2 a0001c0001t0001g0067
a0001c0001t0005g0066
a0001c0001t0001g0067
a0001c0001t0005g0066
 2 HG03098.hp2
HG03540.hp1
HG03098.hp2
HG03540.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(767): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGA
GAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGA
CAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGA
CAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAG
AGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGAC
AGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGA
GAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGA
CAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACA
CACACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(760): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGA
GACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGA
GAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGA
GAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGA
ATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAG
ACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAG
AGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGA
GAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGA
CAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACA
CACACACACACACACACA
 1 a0001c0008t0001g0076
a0001c0008t0001g0076
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(771): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGA
GAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGA
CAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGA
CAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAG
AGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGAC
AGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGA
GAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGA
CAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACA
CACACACACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(762): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGA
GACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGA
GAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGA
GAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGA
ATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAG
ACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAG
AGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGA
GAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGA
CAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACA
CACACACACACACACACACA
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(773): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGA
GAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGA
CAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGA
CAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAG
AGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGAC
AGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGA
GAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGA
CAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACA
CACACACACACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(764): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGA
GACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGA
GAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGA
GAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGA
ATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAG
ACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAG
AGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGA
GAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGA
CAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACA
CACACACACACACACACACACA
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(775): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGA
GAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGA
CAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGA
CAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAG
AGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGAC
AGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGA
GAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGA
CAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACA
CACACACACACACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(746): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGA
GACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGA
GAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGA
GAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGA
ATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAG
ACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGGCAGAGAAAGAGAA
TAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGA
CAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACAGA
GAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACACA
CACA
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(757): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGA
GAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGA
CAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGA
CAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAG
AGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGAC
AGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGA
GACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGA
GAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACA
CACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(754): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACA
GAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCA
GAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGA
GAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGA
GAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGAC
AGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAA
AGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACA
GAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGA
GACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACA
CACACACACACA
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(765): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACA
GAGAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGA
GACAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACT
GACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGG
AGAGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAG
ACAGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACA
GAGAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACG
GACAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACA
CACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(766): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACA
GAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCA
GAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGA
GAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGA
GAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGAC
AGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAA
AGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACA
GAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGA
GACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACA
CACACACACACACACACACACACA
 1 a0001c0001t0001g0065
a0001c0001t0001g0065
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(777): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACA
GAGAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGA
GACAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACT
GACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGG
AGAGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAG
ACAGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACA
GAGAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACG
GACAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACA
CACACACACACACACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(734): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAGAGAG
ACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCAGAGA
GAGAGAGACAGGTGGAGAGAGAGAGAGAGAGACAGAGACAGGCAGAGAGA
GAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGAGAGAGAGACAGA
GAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGAAACAGACAGACAGG
GAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGAC
ACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGGAGAGAGAGAGAG
AGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATAAGACAGAAGACA
GACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACAGAAAGAGACAGA
CAAAGACAGAGACGGACAGAGAGAGACAGAGACAGAGAGAGACAGAGAGA
GAGAGAGAGAAACACACACACACACACACACACACACACACA
 1 a0001c0001t0002g0037
a0001c0001t0002g0037
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(745): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGAC
ACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAG
AAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGACA
GAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCA
GAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGA
GAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAAT
AAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGAC
AGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAG
AATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGA
GACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACA
GAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACA
CACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(740): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAGAGAG
ACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCAGAGA
GAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGACAGAGACAGGCA
GAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGAGAGAGA
GACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGAAACAGACA
GACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAAGACAGAAG
ACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGGAGAGAG
AGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATAAGACAG
AAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACAGAAAGA
GACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACAGAGAGAGACA
GAGAGAGAGAGAGAGAAACACACACACACACACACACACACACACACA
 1 a0001c0001t0002g0100
a0001c0001t0002g0100
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(751): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGAC
ACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAG
AAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGA
GAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGA
CAGGCAGAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGA
GAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAA
GAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAG
ACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAG
AAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGA
CAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACA
GAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACA
CACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(754): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA
CAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAGAGAG
ACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCAGAGA
GAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGA
CAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGA
GAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGA
GAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAAT
AAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGAC
AGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAG
AATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGA
GACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACA
GAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACA
CACACACACACA
 2 a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0078
a0001c0001t0001g0079
 2 HG02258.hp2
HG02717.hp1
HG02258.hp2
HG02717.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(765): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGAC
ACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAG
AAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGA
GAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGA
GAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACA
GGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACA
GGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAG
AGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAG
ACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGA
GAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACA
GAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACA
CACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(758): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGACAGAGAGAGACAGA
GACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGA
GAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGA
GAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGA
ATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAG
ACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAG
AGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGA
GAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGA
CAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACA
CACACACACACACACA
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(769): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GACAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGA
GAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGA
CAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGA
CAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAG
AGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGAC
AGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGA
GAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGA
CAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACA
CACACACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(752): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGACAGAGACAGG
CAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGAGAGA
GAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGAAA
CAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAAGA
CAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGG
AGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATA
AGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACA
GAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACAGAGA
GAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACACACA
CACACACACA
 1 a0001c0001t0001g0173
a0001c0001t0001g0173
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(763): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGA
GACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCA
GAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCA
GAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAG
AGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAG
GCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGA
CAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGA
GAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACA
CACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(754): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGACAGAGACAGG
CAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGAGAGA
GAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGAAA
CAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAAGA
CAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGG
AGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATA
AGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACA
GAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACAGAGA
GAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACACACA
CACACACACACA
 3 a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
 3 HG02818.hp2
HG02922.hp2
HG03130.hp2
HG02818.hp2
HG02922.hp2
HG03130.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(765): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGA
GACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCA
GAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCA
GAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAG
AGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAG
GCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGA
CAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGA
GAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACA
CACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(758): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGACAGAGACAGG
CAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGAGAGA
GAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGAAA
CAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAAGA
CAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGG
AGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATA
AGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACA
GAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACAGAGA
GAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACACACA
CACACACACACACACA
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(769): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGA
GACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCA
GAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCA
GAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAG
AGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAG
GCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGA
CAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGA
GAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACA
CACACACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(756): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGACAGAGACA
GGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGAGA
GAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGA
AACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAA
GACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAG
GGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAGAA
TAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGA
CAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACAGA
GAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACACA
CACACACACACACA
 1 a0001c0006t0001g0160
a0001c0006t0001g0160
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(767): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGA
GAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGG
CAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGG
CAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAG
AGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGAC
AGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGA
GACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGA
GAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACA
CACACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(752): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGA
CAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGA
GAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGA
GAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAAT
AAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGAC
AGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAG
AATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGA
GACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACA
GAGAGAGACAGAGAGAGAGAGAAACACACACACACACACACACACACACA
CACACACACA
 3 a0001c0001t0001g0124
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0124
a0001c0001t0001g0178
a0001c0001t0001g0179
 3 HG01123.hp2
HG01167.hp1
HG02293.hp2
HG01123.hp2
HG01167.hp1
HG02293.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(763): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGA
GAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACA
GGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACA
GGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAG
AGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAG
ACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGA
GAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACA
GAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAAACACACACACA
CACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(750): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGA
CAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGA
GAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGAAA
CAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAAGA
CAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGG
AGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATA
AGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACA
GAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACAGAGA
GAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACACACA
CACACACA
 1 a0002c0002t0001g0005
a0002c0002t0001g0005
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(761): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGA
GAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCA
GAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCA
GAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAG
AGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAG
GCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGA
CAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGA
GAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACA
CACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(752): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGA
CAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGA
GAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGAAA
CAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAAGA
CAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGG
AGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATA
AGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACA
GAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACAGAGA
GAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACACACA
CACACACACA
 1 a0002c0002t0001g0131
a0002c0002t0001g0131
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(763): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGA
GAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCA
GAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCA
GAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAG
AGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAG
GCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGA
CAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGA
GAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACA
CACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(760): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGA
GACAGGCAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGA
GAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGA
GAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGA
ATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAG
ACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAG
AGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGA
GAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGA
CAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACA
CACACACACACACACACA
 2 a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0171
a0001c0001t0001g0172
 2 HG01346.hp1
NA20752.hp2
HG01346.hp1
NA20752.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(771): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACAGACAGA
GAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGA
CAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGA
CAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAG
AGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGAC
AGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGA
GAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGA
CAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACA
CACACACACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(748): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGA
GACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGA
GAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGA
GAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGA
ATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAG
ACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAG
AGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGA
GAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGA
CAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACA
CACACA
 1 a0001c0001t0001g0170
a0001c0001t0001g0170
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(759): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGA
GAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGA
CAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGA
CAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAG
AGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGAC
AGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGA
GAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGA
CAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACA
CACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(754): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGA
GACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGA
GAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGA
GAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGA
ATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAG
ACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAG
AGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGA
GAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGA
CAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACA
CACACACACACA
 1 a0001c0001t0001g0196
a0001c0001t0001g0196
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(765): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGA
GAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGA
CAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGA
CAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAG
AGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGAC
AGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGA
GAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGA
CAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACA
CACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(756): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGA
GACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGA
GAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGA
GAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGA
ATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAG
ACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAG
AGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGA
GAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGA
CAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACA
CACACACACACACA
 2 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0016
a0001c0001t0001g0017
 2 HG03195.hp2
NA19043.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(767): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGA
GAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGA
CAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGA
CAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAG
AGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGAC
AGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGA
GAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGA
CAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACA
CACACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(758): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGA
GACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGA
GAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGA
GAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGA
ATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAG
ACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAG
AGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGA
GAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGA
CAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACA
CACACACACACACACA
 30 a0001c0001t0001g0006
a0001c0001t0001g0126
a0001c0001t0001g0130
others(27): Show 
a0001c0001t0001g0006
a0001c0001t0001g0126
a0001c0001t0001g0130
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0159
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0193
a0001c0001t0002g0143
a0001c0010t0001g0155
a0002c0002t0001g0125
 30 HG00544.hp1
HG00558.hp2
HG00621.hp1
others(27): Show 
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00642.hp2
HG01175.hp2
HG01257.hp1
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02155.hp1
HG02165.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02735.hp1
HG03017.hp2
HG03239.hp2
HG03704.hp2
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18962.hp2
NA18963.hp2
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19057.hp1
NA19065.hp2
NA19068.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(769): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGA
GAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGA
CAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGA
CAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAG
AGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGAC
AGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGA
GAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGA
CAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACA
CACACACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(760): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGA
GACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGA
GAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGA
GAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGA
ATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAG
ACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAG
AGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGA
GAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGA
CAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACA
CACACACACACACACACA
 18 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(15): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0123
a0001c0001t0001g0127
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0002g0168
a0001c0001t0002g0176
a0003c0005t0001g0163
a0003c0005t0001g0164
 18 HG00099.hp1
HG00639.hp1
HG01070.hp2
others(15): Show 
HG00099.hp1
HG00639.hp1
HG01070.hp2
HG01071.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG02145.hp2
HG02559.hp1
HG02965.hp2
HG02970.hp1
HG03098.hp1
HG03471.hp2
HG03710.hp1
HG03927.hp1
NA18951.hp2
NA18960.hp2
NA20805.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(771): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGA
GAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGA
CAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGA
CAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAG
AGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGAC
AGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGA
GAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGA
CAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACA
CACACACACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(762): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGA
GACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGA
GAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGA
GAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGA
ATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAG
ACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAG
AGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGA
GAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGA
CAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACA
CACACACACACACACACACA
 2 a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0161
a0001c0001t0001g0162
 2 NA18972.hp2
NA18989.hp1
NA18972.hp2
NA18989.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(773): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGA
GAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGA
CAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGA
CAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAG
AGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGAC
AGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGA
GAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGA
CAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACA
CACACACACACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(764): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGA
GACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGA
GAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGA
GAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGA
ATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAG
ACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAG
AGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGA
GAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGA
CAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACA
CACACACACACACACACACACA
 1 a0001c0001t0001g0184
a0001c0001t0001g0184
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(775): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGA
GAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGA
CAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGA
CAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAG
AGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGAC
AGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGA
GAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGA
CAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACA
CACACACACACACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(766): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGA
GACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGA
GAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGA
GAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGA
ATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAG
ACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAG
AGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGA
GAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGA
CAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACA
CACACACACACACACACACACACA
 2 a0001c0001t0001g0181
a0001c0001t0001g0194
a0001c0001t0001g0181
a0001c0001t0001g0194
 2 HG01074.hp2
HG03453.hp2
HG01074.hp2
HG03453.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(777): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGA
GAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGA
CAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGA
CAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAG
AGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGAC
AGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGA
GAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGA
CAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACA
CACACACACACACACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(758): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGA
GACAGGCAGAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCA
GAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGA
GAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGA
GAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGAC
AGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAA
AGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACA
GAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGA
GACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACA
CACACACACACACACA
 2 a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0128
a0001c0001t0001g0129
 2 NA18999.hp1
NA19079.hp2
NA18999.hp1
NA19079.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(769): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGAGACAGAGAGACGGACA
GAGAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGA
GACAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACT
GACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGG
AGAGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAG
ACAGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACA
GAGAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACG
GACAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACA
CACACACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(754): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACA
GAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAAAGAGACAGGCA
GAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGA
GAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAAT
AAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGAC
AGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAG
AATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGA
GACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACA
GAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACA
CACACACACACA
 1 a0001c0001t0001g0007
a0001c0001t0001g0007
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(765): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACA
GAGAAAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGAGAGAGAGACA
GGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACA
GGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAG
AGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAG
ACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGA
GAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACA
GAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACA
CACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(758): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACA
GAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCA
GAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGA
GAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGA
GAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGAC
AGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAA
AGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACA
GAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGA
GACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACA
CACACACACACACACA
 1 a0001c0003t0001g0191
a0001c0003t0001g0191
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(769): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACA
GAGAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGA
GACAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACT
GACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGG
AGAGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAG
ACAGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACA
GAGAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACG
GACAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACA
CACACACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(760): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACA
GAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCA
GAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGA
GAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGA
GAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGAC
AGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAA
AGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACA
GAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGA
GACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACA
CACACACACACACACACA
 3 a0001c0001t0001g0068
a0001c0001t0001g0072
a0002c0002t0001g0195
a0001c0001t0001g0068
a0001c0001t0001g0072
a0002c0002t0001g0195
 3 HG00642.hp1
HG02886.hp1
homoSapiens_chm13v2.hp1
HG00642.hp1
HG02886.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(771): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACA
GAGAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGA
GACAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACT
GACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGG
AGAGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAG
ACAGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACA
GAGAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACG
GACAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACA
CACACACACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(762): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACA
GAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCA
GAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGA
GAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGA
GAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGAC
AGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAA
AGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACA
GAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGA
GACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACA
CACACACACACACACACACA
 12 a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
others(9): Show 
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0002c0002t0001g0071
 12 HG01261.hp1
HG01361.hp2
HG01515.hp2
others(9): Show 
HG01261.hp1
HG01361.hp2
HG01515.hp2
HG02300.hp2
HG02717.hp2
HG03130.hp1
NA18906.hp1
NA18952.hp2
NA18955.hp2
NA18984.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(773): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACA
GAGAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGA
GACAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACT
GACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGG
AGAGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAG
ACAGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACA
GAGAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACG
GACAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACA
CACACACACACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(752): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACA
GAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCA
GAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGA
GAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAAT
AAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGAC
AGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAG
AATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGA
GACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACA
GAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACA
CACACACACA
 1 a0002c0002t0001g0013
a0002c0002t0001g0013
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.105-16526_105-1652
others(763): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACA
GAGAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGAGAGAGAGACA
GGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACA
GGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAG
AGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAG
ACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGA
GAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACA
GAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACA
CACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(754): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACA
GAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCA
GAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGA
GAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAAT
AAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGAC
AGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAG
AATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGA
GACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACA
GAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACA
CACACACACACA
 7 a0002c0002t0001g0004
a0002c0002t0001g0008
a0002c0002t0001g0009
others(4): Show 
a0002c0002t0001g0004
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0014
 7 HG01496.hp2
HG03490.hp2
HG03492.hp2
others(4): Show 
HG01496.hp2
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(765): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACA
GAGAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGAGAGAGAGACA
GGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACA
GGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAG
AGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAG
ACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGA
GAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACA
GAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACA
CACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(762): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
CAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGG
CAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGA
GAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAA
GAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAG
ACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAG
AAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGA
CAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACA
GAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACA
CACACACACACACACACACA
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(773): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGA
CAGAGAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGA
GAGACAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGA
CTGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAG
GGAGAGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGAC
AGACAGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGA
CAGAGAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGA
CGGACAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAA
CACACACACACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730862 G
G
 GCAGACAG
others(768): Show 
GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA
CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA
GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA
GACAGAGAGAGAGACAGAGACAGGTAGAGAGAGAGACAGAGAGAGACAGA
CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG
AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA
GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
GACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACA
GGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGA
GAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGA
AAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGAC
AGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAG
AGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGA
GACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGA
CAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACA
CACACACACACACACACACACACACA
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(779): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGTAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACG
GACAGAGAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGA
GAGAGACAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGA
GACTGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGAC
AGGGAGAGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAG
ACAGACAGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGA
GACAGAGAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGA
GACGGACAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGA
AACACACACACACACACACACACACACACACACACACACACACAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730862
chr2:62730863 C
C
 CAGACAGA
others(764): Show 
CAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACAC
ACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACAG
AGAGAGGCAGAAACAGAAAGAGAGAGACACAGAGAGAGAGACAGAGACAG
AGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGACAGAC
AGGCAGAGAAAGACAGTAAGATAGAAGACAGACACACAGAGAGAGAGAGA
CAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCAGAGAG
AGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAG
AGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAG
AGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAG
AGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAG
AATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACA
GACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAA
GAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAG
AGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAG
ACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACAC
ACACACACACACACACACAGAG
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(775): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGAAAGAGAGAGACACAGA
GAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACA
GAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGAC
ACACAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAG
AAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGA
GAGAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACA
GAGAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGA
GACAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACT
GACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGG
AGAGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAG
ACAGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACA
GAGAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACG
GACAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACA
CACACACACACACACACACACACACACACACACACAGAGAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730863
chr2:62730863 C
C
 CAGACAGA
others(754): Show 
CAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACAC
ACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACAG
AGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGAG
ACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGAC
AGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACACAGAGAGAGA
GAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCAG
AGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAG
AGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAG
AGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAG
AGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAG
AATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACA
GACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAA
GAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAG
AGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAG
ACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACAC
ACACACACACAG
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.105-16526_105-1652
others(765): Show 
c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG
AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA
CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA
CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA
GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC
AGACACACAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG
ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA
GAGAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACA
GAGAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGA
GACAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACT
GACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGG
AGAGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAG
ACAGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACA
GAGAGAGACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACG
GACAGAGAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACA
CACACACACACACACACACACACACACAGAGACAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730863
chr2:62730870 G
G
 A
A
 85 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(82): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
 85 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(82): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.105-16525G>A
c.105-16525G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62730870
chr2:62730920 T
T
 TAG
TAG
 12 a0001c0001t0001g0007
a0002c0002t0001g0004
a0002c0002t0001g0005
others(9): Show 
a0001c0001t0001g0007
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0131
a0002c0002t0001g0195
 12 HG00438.hp1
HG01123.hp1
HG01361.hp1
others(9): Show 
HG00438.hp1
HG01123.hp1
HG01361.hp1
HG01496.hp2
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.105-16465_105-1646
others(6): Show 
c.105-16465_105-16464dupGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62730920
chr2:62731214 A
A
 G
G
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.105-16181A>G
c.105-16181A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62731214
chr2:62731402 T
T
 C
C
 1 a0001c0001t0001g0137
a0001c0001t0001g0137
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.105-15993T>C
c.105-15993T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62731402
chr2:62732126 C
C
 T
T
 1 a0001c0001t0001g0060
a0001c0001t0001g0060
 1 NA18984.hp2
NA18984.hp2
 intron_variant MODIFIER c.105-15269C>T
c.105-15269C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62732126
chr2:62732173 T
T
 A
A
 85 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(82): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
 85 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(82): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.105-15222T>A
c.105-15222T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62732173
chr2:62732470 A
A
 C
C
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.105-14925A>C
c.105-14925A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62732470
chr2:62732830 T
T
 C
C
 1 a0001c0001t0002g0101
a0001c0001t0002g0101
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.105-14565T>C
c.105-14565T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62732830
chr2:62732860 T
T
 C
C
 2 a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0058
a0001c0001t0001g0059
 2 NA18952.hp2
NA18955.hp2
NA18952.hp2
NA18955.hp2
 intron_variant MODIFIER c.105-14535T>C
c.105-14535T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62732860
chr2:62733038 A
A
 G
G
 8 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(5): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0079
a0001c0001t0005g0066
 8 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(5): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02717.hp1
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.105-14357A>G
c.105-14357A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62733038
chr2:62733055 T
T
 C
C
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.105-14340T>C
c.105-14340T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62733055
chr2:62733098 A
A
 G
G
 2 a0001c0001t0001g0198
a0004c0009t0001g0197
a0001c0001t0001g0198
a0004c0009t0001g0197
 2 HG01243.hp2
HG02622.hp2
HG01243.hp2
HG02622.hp2
 intron_variant MODIFIER c.105-14297A>G
c.105-14297A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62733098
chr2:62733174 T
T
 A
A
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.105-14221T>A
c.105-14221T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62733174
chr2:62733272 G
G
 T
T
 1 a0001c0001t0001g0177
a0001c0001t0001g0177
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.105-14123G>T
c.105-14123G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62733272
chr2:62733370 C
C
 T
T
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.105-14025C>T
c.105-14025C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62733370
chr2:62733475 A
A
 G
G
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.105-13920A>G
c.105-13920A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62733475
chr2:62733989 A
A
 G
G
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.105-13406A>G
c.105-13406A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62733989
chr2:62734040 T
T
 A
A
 3 a0001c0001t0001g0165
a0003c0005t0001g0163
a0003c0005t0001g0164
a0001c0001t0001g0165
a0003c0005t0001g0163
a0003c0005t0001g0164
 3 HG01070.hp2
HG01071.hp1
HG01261.hp2
HG01070.hp2
HG01071.hp1
HG01261.hp2
 intron_variant MODIFIER c.105-13355T>A
c.105-13355T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62734040
chr2:62734044 G
G
 A
A
 17 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(14): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0006t0001g0160
a0003c0005t0001g0163
a0003c0005t0001g0164
 17 HG00099.hp1
HG00639.hp1
HG00738.hp1
others(14): Show 
HG00099.hp1
HG00639.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG03491.hp1
HG03710.hp1
HG03927.hp1
NA18960.hp2
NA18972.hp2
NA18989.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.105-13351G>A
c.105-13351G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62734044
chr2:62734399 C
C
 CT
CT
 28 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
others(25): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0182
a0001c0001t0002g0037
 28 HG00099.hp2
HG00280.hp2
HG00642.hp2
others(25): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp2
HG00738.hp2
HG01074.hp1
HG01175.hp1
HG01256.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG02015.hp1
HG02258.hp1
HG02965.hp1
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18952.hp2
NA18984.hp2
NA18999.hp1
NA19010.hp2
NA19068.hp2
NA19079.hp2
 intron_variant MODIFIER c.105-12982dupT
c.105-12982dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62734399
chr2:62734399 CT
CT
 C
C
 5 a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
others(2): Show 
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0005g0066
 5 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(2): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG03098.hp2
HG03540.hp1
 intron_variant MODIFIER c.105-12982delT
c.105-12982delT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62734399
chr2:62734441 T
T
 A
A
 1 a0001c0001t0002g0111
a0001c0001t0002g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.105-12954T>A
c.105-12954T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62734441
chr2:62734442 C
C
 T
T
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.105-12953C>T
c.105-12953C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62734442
chr2:62734498 A
A
 G
G
 1 a0001c0001t0001g0150
a0001c0001t0001g0150
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.105-12897A>G
c.105-12897A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62734498
chr2:62734615 T
T
 A
A
 6 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(3): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0005g0066
 6 HG02109.hp2
HG02280.hp1
HG03098.hp2
others(3): Show 
HG02109.hp2
HG02280.hp1
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.105-12780T>A
c.105-12780T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62734615
chr2:62734747 G
G
 A
A
 37 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(34): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0192
a0001c0001t0002g0037
 37 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(34): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00621.hp2
HG00738.hp2
HG01074.hp1
HG01175.hp1
HG01256.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG02165.hp1
HG02258.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18952.hp1
NA18962.hp1
NA18972.hp1
NA18995.hp2
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19057.hp2
NA20752.hp1
 intron_variant MODIFIER c.105-12648G>A
c.105-12648G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62734747
chr2:62734763 G
G
 A
A
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.105-12632G>A
c.105-12632G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62734763
chr2:62735269 A
A
 AT
AT
 9 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(6): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0004g0089
a0001c0001t0005g0066
a0004c0009t0001g0197
 9 HG01243.hp2
HG02015.hp2
HG02109.hp2
others(6): Show 
HG01243.hp2
HG02015.hp2
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.105-12115dupT
c.105-12115dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62735269
chr2:62735300 C
C
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.105-12095C>T
c.105-12095C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62735300
chr2:62736224 C
C
 CT
CT
 19 a0001c0001t0001g0027
a0001c0001t0001g0034
a0001c0001t0001g0044
others(16): Show 
a0001c0001t0001g0027
a0001c0001t0001g0034
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0079
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0174
a0001c0001t0001g0196
a0001c0001t0002g0109
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
 19 HG00280.hp1
HG01167.hp2
HG02109.hp2
others(16): Show 
HG00280.hp1
HG01167.hp2
HG02109.hp2
HG02135.hp1
HG02280.hp1
HG02559.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03540.hp1
HG03831.hp1
NA18972.hp1
NA18992.hp2
NA19010.hp2
NA19240.hp2
 intron_variant MODIFIER c.105-11151dupT
c.105-11151dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62736224
chr2:62736347 C
C
 T
T
 1 a0001c0001t0001g0162
a0001c0001t0001g0162
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.105-11048C>T
c.105-11048C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62736347
chr2:62736457 C
C
 A
A
 1 a0001c0001t0002g0090
a0001c0001t0002g0090
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.105-10938C>A
c.105-10938C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62736457
chr2:62736481 C
C
 T
T
 6 a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
others(3): Show 
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
 6 HG02717.hp2
HG03130.hp1
HG03540.hp2
others(3): Show 
HG02717.hp2
HG03130.hp1
HG03540.hp2
NA18906.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.105-10914C>T
c.105-10914C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62736481
chr2:62737572 G
G
 A
A
 2 a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0128
a0001c0001t0001g0129
 2 NA18999.hp1
NA19079.hp2
NA18999.hp1
NA19079.hp2
 intron_variant MODIFIER c.105-9823G>A
c.105-9823G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62737572
chr2:62738216 A
A
 G
G
 8 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(5): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0079
a0001c0001t0005g0066
 8 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(5): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02717.hp1
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.105-9179A>G
c.105-9179A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62738216
chr2:62738333 C
C
 T
T
 2 a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0001g0118
a0001c0004t0001g0121
 2 HG01167.hp2
HG02809.hp2
HG01167.hp2
HG02809.hp2
 intron_variant MODIFIER c.105-9062C>T
c.105-9062C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62738333
chr2:62738515 G
G
 C
C
 2 a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0004t0003g0114
a0001c0004t0003g0115
 2 HG02280.hp2
NA20300.hp1
HG02280.hp2
NA20300.hp1
 intron_variant MODIFIER c.105-8880G>C
c.105-8880G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62738515
chr2:62738618 T
T
 C
C
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.105-8777T>C
c.105-8777T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62738618
chr2:62738733 A
A
 G
G
 3 a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0002g0176
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0002g0176
 3 HG03491.hp1
HG03710.hp1
HG03927.hp1
HG03491.hp1
HG03710.hp1
HG03927.hp1
 intron_variant MODIFIER c.105-8662A>G
c.105-8662A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62738733
chr2:62738826 T
T
 A
A
 5 a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
others(2): Show 
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
 5 HG02717.hp2
HG03130.hp1
NA18906.hp1
others(2): Show 
HG02717.hp2
HG03130.hp1
NA18906.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.105-8569T>A
c.105-8569T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62738826
chr2:62738827 C
C
 A
A
 5 a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
others(2): Show 
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
 5 HG02717.hp2
HG03130.hp1
NA18906.hp1
others(2): Show 
HG02717.hp2
HG03130.hp1
NA18906.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.105-8568C>A
c.105-8568C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62738827
chr2:62739188 T
T
 C
C
 3 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0008t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0008t0001g0076
 3 HG02258.hp2
HG03195.hp1
NA19043.hp1
HG02258.hp2
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.105-8207T>C
c.105-8207T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62739188
chr2:62739347 A
A
 G
G
 2 a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0104
a0001c0001t0002g0105
 2 HG01257.hp2
HG01258.hp2
HG01257.hp2
HG01258.hp2
 intron_variant MODIFIER c.105-8048A>G
c.105-8048A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62739347
chr2:62739623 T
T
 C
C
 102 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(99): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0182
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 102 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(99): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02559.hp2
HG02622.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18984.hp2
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.105-7772T>C
c.105-7772T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62739623
chr2:62739935 GA
GA
 G
G
 93 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(90): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
 93 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(90): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.105-7442delA
c.105-7442delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62739935
chr2:62740034 C
C
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.105-7361C>T
c.105-7361C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62740034
chr2:62740263 A
A
 G
G
 1 a0001c0001t0001g0149
a0001c0001t0001g0149
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.105-7132A>G
c.105-7132A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62740263
chr2:62740483 A
A
 G
G
 1 a0001c0001t0001g0127
a0001c0001t0001g0127
 1 NA18951.hp2
NA18951.hp2
 intron_variant MODIFIER c.105-6912A>G
c.105-6912A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62740483
chr2:62740753 T
T
 G
G
 8 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(5): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0079
a0001c0001t0005g0066
 8 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(5): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02717.hp1
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.105-6642T>G
c.105-6642T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62740753
chr2:62741382 A
A
 G
G
 7 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(4): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0005g0066
 7 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(4): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.105-6013A>G
c.105-6013A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62741382
chr2:62741436 T
T
 C
C
 10 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(7): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0079
a0001c0001t0001g0198
a0001c0001t0005g0066
a0004c0009t0001g0197
 10 HG01243.hp2
HG02109.hp2
HG02280.hp1
others(7): Show 
HG01243.hp2
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02622.hp2
HG02717.hp1
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.105-5959T>C
c.105-5959T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62741436
chr2:62741588 G
G
 C
C
 1 a0001c0008t0001g0076
a0001c0008t0001g0076
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.105-5807G>C
c.105-5807G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62741588
chr2:62741845 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.105-5550A>G
c.105-5550A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62741845
chr2:62741980 T
T
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.105-5415T>G
c.105-5415T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62741980
chr2:62742076 G
G
 A
A
 1 a0002c0002t0001g0195
a0002c0002t0001g0195
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.105-5319G>A
c.105-5319G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62742076
chr2:62742175 G
G
 C
C
 85 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(82): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
 85 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(82): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.105-5220G>C
c.105-5220G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62742175
chr2:62742328 A
A
 G
G
 7 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(4): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0005g0066
 7 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(4): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.105-5067A>G
c.105-5067A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62742328
chr2:62742528 A
A
 G
G
 1 a0001c0001t0002g0101
a0001c0001t0002g0101
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.105-4867A>G
c.105-4867A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62742528
chr2:62743095 G
G
 A
A
 1 a0001c0001t0001g0126
a0001c0001t0001g0126
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.105-4300G>A
c.105-4300G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62743095
chr2:62743240 T
T
 C
C
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.105-4155T>C
c.105-4155T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62743240
chr2:62743262 T
T
 C
C
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.105-4133T>C
c.105-4133T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62743262
chr2:62743481 A
A
 G
G
 1 a0001c0001t0001g0060
a0001c0001t0001g0060
 1 NA18984.hp2
NA18984.hp2
 intron_variant MODIFIER c.105-3914A>G
c.105-3914A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62743481
chr2:62743810 T
T
 A
A
 1 a0002c0002t0001g0008
a0002c0002t0001g0008
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.105-3585T>A
c.105-3585T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62743810
chr2:62743907 G
G
 T
T
 2 a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0013
a0002c0002t0001g0014
 2 HG01123.hp1
HG01496.hp2
HG01123.hp1
HG01496.hp2
 intron_variant MODIFIER c.105-3488G>T
c.105-3488G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62743907
chr2:62744055 C
C
 T
T
 6 a0001c0001t0001g0123
a0001c0001t0001g0133
a0001c0001t0001g0134
others(3): Show 
a0001c0001t0001g0123
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0159
 6 HG02145.hp2
HG02559.hp1
HG02622.hp1
others(3): Show 
HG02145.hp2
HG02559.hp1
HG02622.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.105-3340C>T
c.105-3340C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62744055
chr2:62744571 T
T
 C
C
 1 a0001c0001t0002g0091
a0001c0001t0002g0091
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.105-2824T>C
c.105-2824T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62744571
chr2:62745038 A
A
 G
G
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.105-2357A>G
c.105-2357A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62745038
chr2:62745044 C
C
 A
A
 1 a0001c0001t0001g0078
a0001c0001t0001g0078
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.105-2351C>A
c.105-2351C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62745044
chr2:62745133 G
G
 C
C
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.105-2262G>C
c.105-2262G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62745133
chr2:62745383 T
T
 C
C
 2 a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0009
a0002c0002t0001g0010
 2 HG03490.hp2
HG03492.hp2
HG03490.hp2
HG03492.hp2
 intron_variant MODIFIER c.105-2012T>C
c.105-2012T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62745383
chr2:62745411 A
A
 G
G
 2 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0116
a0001c0001t0001g0117
 2 HG02818.hp1
HG03139.hp2
HG02818.hp1
HG03139.hp2
 intron_variant MODIFIER c.105-1984A>G
c.105-1984A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62745411
chr2:62745497 T
T
 G
G
 2 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0016
a0001c0001t0001g0017
 2 HG03195.hp2
NA19043.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.105-1898T>G
c.105-1898T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62745497
chr2:62745509 T
T
 G
G
 8 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(5): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0079
a0001c0001t0005g0066
 8 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(5): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02717.hp1
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.105-1886T>G
c.105-1886T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62745509
chr2:62745522 G
G
 C
C
 3 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
 3 HG02818.hp1
HG02886.hp2
HG03139.hp2
HG02818.hp1
HG02886.hp2
HG03139.hp2
 intron_variant MODIFIER c.105-1873G>C
c.105-1873G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62745522
chr2:62745976 A
A
 G
G
 1 a0001c0001t0001g0042
a0001c0001t0001g0042
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.105-1419A>G
c.105-1419A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62745976
chr2:62746691 T
T
 TA
TA
 2 a0001c0001t0001g0198
a0004c0009t0001g0197
a0001c0001t0001g0198
a0004c0009t0001g0197
 2 HG01243.hp2
HG02622.hp2
HG01243.hp2
HG02622.hp2
 intron_variant MODIFIER c.105-703dupA
c.105-703dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 INFO_REALIGN_3_PRIME chr2 62746691
chr2:62747017 C
C
 G
G
 1 a0001c0001t0001g0019
a0001c0001t0001g0019
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.105-378C>G
c.105-378C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62747017
chr2:62747269 C
C
 T
T
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.105-126C>T
c.105-126C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 2/22 chr2 62747269
chr2:62747733 C
C
 T
T
 3 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0008t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0008t0001g0076
 3 HG02258.hp2
HG03195.hp1
NA19043.hp1
HG02258.hp2
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.162+281C>T
c.162+281C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62747733
chr2:62747978 C
C
 G
G
 1 a0001c0001t0001g0173
a0001c0001t0001g0173
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.162+526C>G
c.162+526C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62747978
chr2:62748315 G
G
 A
A
 1 a0001c0001t0001g0166
a0001c0001t0001g0166
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.162+863G>A
c.162+863G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62748315
chr2:62748832 G
G
 T
T
 2 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0116
a0001c0001t0001g0117
 2 HG02818.hp1
HG03139.hp2
HG02818.hp1
HG03139.hp2
 intron_variant MODIFIER c.162+1380G>T
c.162+1380G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62748832
chr2:62749048 A
A
 G
G
 1 a0001c0001t0005g0066
a0001c0001t0005g0066
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.162+1596A>G
c.162+1596A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62749048
chr2:62749201 G
G
 C
C
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.162+1749G>C
c.162+1749G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62749201
chr2:62749206 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.162+1754A>G
c.162+1754A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62749206
chr2:62749597 T
T
 C
C
 1 a0001c0001t0001g0152
a0001c0001t0001g0152
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.162+2145T>C
c.162+2145T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62749597
chr2:62749668 T
T
 C
C
 1 a0001c0001t0001g0016
a0001c0001t0001g0016
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.162+2216T>C
c.162+2216T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62749668
chr2:62749764 G
G
 A
A
 1 a0001c0001t0001g0078
a0001c0001t0001g0078
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.162+2312G>A
c.162+2312G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62749764
chr2:62749776 G
G
 A
A
 3 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0008t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0008t0001g0076
 3 HG02258.hp2
HG03195.hp1
NA19043.hp1
HG02258.hp2
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.162+2324G>A
c.162+2324G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62749776
chr2:62749897 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.162+2445A>G
c.162+2445A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62749897
chr2:62749945 C
C
 T
T
 3 a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0021
 3 HG02818.hp2
HG02922.hp2
HG03130.hp2
HG02818.hp2
HG02922.hp2
HG03130.hp2
 intron_variant MODIFIER c.162+2493C>T
c.162+2493C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62749945
chr2:62749991 A
A
 G
G
 6 a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0031
others(3): Show 
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0041
 6 HG00099.hp2
HG00280.hp2
HG00738.hp2
others(3): Show 
HG00099.hp2
HG00280.hp2
HG00738.hp2
HG01074.hp1
HG02258.hp1
HG03017.hp1
 intron_variant MODIFIER c.162+2539A>G
c.162+2539A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62749991
chr2:62750010 G
G
 T
T
 1 a0002c0002t0001g0131
a0002c0002t0001g0131
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.162+2558G>T
c.162+2558G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62750010
chr2:62750143 C
C
 T
T
 1 a0001c0004t0003g0115
a0001c0004t0003g0115
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.162+2691C>T
c.162+2691C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62750143
chr2:62750366 A
A
 G
G
 2 a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0004t0003g0114
a0001c0004t0003g0115
 2 HG02280.hp2
NA20300.hp1
HG02280.hp2
NA20300.hp1
 intron_variant MODIFIER c.162+2914A>G
c.162+2914A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62750366
chr2:62750575 G
G
 A
A
 1 a0002c0002t0001g0011
a0002c0002t0001g0011
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.162+3123G>A
c.162+3123G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62750575
chr2:62750650 T
T
 C
C
 3 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
 3 HG02818.hp1
HG02886.hp2
HG03139.hp2
HG02818.hp1
HG02886.hp2
HG03139.hp2
 intron_variant MODIFIER c.162+3198T>C
c.162+3198T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62750650
chr2:62750789 G
G
 A
A
 1 a0001c0001t0001g0137
a0001c0001t0001g0137
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.162+3337G>A
c.162+3337G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62750789
chr2:62750911 A
A
 G
G
 1 a0001c0001t0001g0161
a0001c0001t0001g0161
 1 NA18972.hp2
NA18972.hp2
 intron_variant MODIFIER c.162+3459A>G
c.162+3459A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62750911
chr2:62751195 G
G
 A
A
 1 a0001c0001t0001g0158
a0001c0001t0001g0158
 1 NA18992.hp1
NA18992.hp1
 intron_variant MODIFIER c.162+3743G>A
c.162+3743G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62751195
chr2:62751204 A
A
 T
T
 1 a0001c0001t0001g0158
a0001c0001t0001g0158
 1 NA18992.hp1
NA18992.hp1
 intron_variant MODIFIER c.162+3752A>T
c.162+3752A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62751204
chr2:62751212 G
G
 A
A
 1 a0001c0004t0001g0118
a0001c0004t0001g0118
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.162+3760G>A
c.162+3760G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62751212
chr2:62751351 A
A
 G
G
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.162+3899A>G
c.162+3899A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62751351
chr2:62751436 C
C
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.162+3984C>T
c.162+3984C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62751436
chr2:62751536 T
T
 C
C
 2 a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0152
a0001c0001t0001g0153
 2 HG02040.hp2
NA19010.hp1
HG02040.hp2
NA19010.hp1
 intron_variant MODIFIER c.162+4084T>C
c.162+4084T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62751536
chr2:62751593 G
G
 A
A
 1 a0002c0002t0001g0004
a0002c0002t0001g0004
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.162+4141G>A
c.162+4141G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62751593
chr2:62751615 C
C
 G
G
 8 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(5): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0079
a0001c0001t0005g0066
 8 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(5): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02717.hp1
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.162+4163C>G
c.162+4163C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62751615
chr2:62751616 G
G
 A
A
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.162+4164G>A
c.162+4164G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62751616
chr2:62751616 G
G
 T
T
 1 a0001c0001t0001g0030
a0001c0001t0001g0030
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.162+4164G>T
c.162+4164G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62751616
chr2:62751723 G
G
 T
T
 38 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(35): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0088
 38 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(35): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00621.hp2
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01175.hp1
HG01256.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG02165.hp1
HG02258.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18952.hp1
NA18962.hp1
NA18972.hp1
NA18995.hp2
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19057.hp2
NA20752.hp1
 intron_variant MODIFIER c.162+4271G>T
c.162+4271G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62751723
chr2:62751738 T
T
 C
C
 1 a0001c0001t0002g0092
a0001c0001t0002g0092
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.162+4286T>C
c.162+4286T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62751738
chr2:62751746 T
T
 G
G
 1 a0001c0001t0002g0082
a0001c0001t0002g0082
 1 NA18998.hp1
NA18998.hp1
 intron_variant MODIFIER c.162+4294T>G
c.162+4294T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62751746
chr2:62751832 C
C
 A
A
 1 a0001c0001t0001g0138
a0001c0001t0001g0138
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.162+4380C>A
c.162+4380C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62751832
chr2:62751846 G
G
 T
T
 93 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(90): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 93 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(90): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.162+4394G>T
c.162+4394G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62751846
chr2:62752019 C
C
 G
G
 1 a0001c0001t0001g0123
a0001c0001t0001g0123
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.162+4567C>G
c.162+4567C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62752019
chr2:62752184 G
G
 A
A
 1 a0002c0002t0001g0004
a0002c0002t0001g0004
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.162+4732G>A
c.162+4732G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62752184
chr2:62752302 G
G
 T
T
 1 a0001c0001t0002g0092
a0001c0001t0002g0092
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.162+4850G>T
c.162+4850G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62752302
chr2:62752418 G
G
 A
A
 1 a0001c0001t0002g0091
a0001c0001t0002g0091
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.162+4966G>A
c.162+4966G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62752418
chr2:62752530 T
T
 G
G
 1 a0002c0002t0001g0195
a0002c0002t0001g0195
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.162+5078T>G
c.162+5078T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62752530
chr2:62752624 G
G
 C
C
 90 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(87): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
 90 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(87): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
 intron_variant MODIFIER c.162+5172G>C
c.162+5172G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62752624
chr2:62752756 TCTTTGTT
others(19): Show 
TCTTTGTTTAAAGTGTGTTTTATCACA
 T
T
 16 a0001c0001t0001g0006
a0001c0001t0001g0127
a0001c0001t0001g0138
others(13): Show 
a0001c0001t0001g0006
a0001c0001t0001g0127
a0001c0001t0001g0138
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0173
a0001c0001t0001g0180
a0001c0001t0001g0196
a0001c0010t0001g0155
a0002c0002t0001g0125
 16 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(13): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG02071.hp1
HG02155.hp1
HG02602.hp1
HG02602.hp2
HG03704.hp2
HG03710.hp2
NA18612.hp1
NA18951.hp2
NA18962.hp2
NA19005.hp2
NA19009.hp2
NA19065.hp2
 intron_variant MODIFIER c.162+5329_162+5354d
others(28): Show 
c.162+5329_162+5354delCACTTTGTTTAAAGTGTGTTTTATCA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 INFO_REALIGN_3_PRIME chr2 62752756
chr2:62753100 T
T
 C
C
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.162+5648T>C
c.162+5648T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62753100
chr2:62753116 G
G
 A
A
 1 a0001c0001t0001g0069
a0001c0001t0001g0069
 1 HG01515.hp2
HG01515.hp2
 intron_variant MODIFIER c.162+5664G>A
c.162+5664G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62753116
chr2:62753445 T
T
 C
C
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.162+5993T>C
c.162+5993T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62753445
chr2:62753531 G
G
 C
C
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.162+6079G>C
c.162+6079G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62753531
chr2:62753661 T
T
 C
C
 1 a0001c0003t0001g0187
a0001c0003t0001g0187
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.162+6209T>C
c.162+6209T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62753661
chr2:62753783 A
A
 G
G
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.162+6331A>G
c.162+6331A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62753783
chr2:62753812 C
C
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.162+6360C>T
c.162+6360C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62753812
chr2:62754043 C
C
 T
T
 2 a0001c0001t0001g0057
a0001c0001t0001g0183
a0001c0001t0001g0057
a0001c0001t0001g0183
 2 HG02109.hp1
HG03453.hp1
HG02109.hp1
HG03453.hp1
 intron_variant MODIFIER c.162+6591C>T
c.162+6591C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62754043
chr2:62754081 A
A
 G
G
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.162+6629A>G
c.162+6629A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62754081
chr2:62754186 T
T
 C
C
 1 a0001c0001t0001g0196
a0001c0001t0001g0196
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.162+6734T>C
c.162+6734T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62754186
chr2:62754293 G
G
 T
T
 34 a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
others(31): Show 
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0007t0002g0097
 34 HG00544.hp2
HG00558.hp1
HG00639.hp2
others(31): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp2
HG01070.hp1
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG03704.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18998.hp1
NA19012.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20805.hp2
 intron_variant MODIFIER c.162+6841G>T
c.162+6841G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62754293
chr2:62754392 G
G
 A
A
 1 a0001c0001t0001g0133
a0001c0001t0001g0133
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.162+6940G>A
c.162+6940G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62754392
chr2:62754647 G
G
 A
A
 1 a0001c0001t0001g0067
a0001c0001t0001g0067
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.162+7195G>A
c.162+7195G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62754647
chr2:62754663 C
C
 T
T
 119 a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0022
others(116): Show 
a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0131
a0002c0002t0001g0195
a0004c0009t0001g0197
 119 HG00099.hp2
HG00280.hp2
HG00438.hp1
others(116): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01123.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02559.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp2
HG04228.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.162+7211C>T
c.162+7211C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62754663
chr2:62754676 C
C
 T
T
 35 a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
others(32): Show 
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0007t0002g0097
 35 HG00544.hp2
HG00558.hp1
HG00639.hp2
others(32): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG03704.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18998.hp1
NA19012.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20805.hp2
 intron_variant MODIFIER c.162+7224C>T
c.162+7224C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62754676
chr2:62754724 G
G
 T
T
 1 a0001c0001t0002g0099
a0001c0001t0002g0099
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.162+7272G>T
c.162+7272G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62754724
chr2:62754734 C
C
 A
A
 93 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(90): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 93 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(90): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.162+7282C>A
c.162+7282C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62754734
chr2:62754783 G
G
 A
A
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.162+7331G>A
c.162+7331G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62754783
chr2:62754793 C
C
 T
T
 1 a0001c0001t0001g0144
a0001c0001t0001g0144
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.162+7341C>T
c.162+7341C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62754793
chr2:62754810 G
G
 A
A
 3 a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0180
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0180
 3 HG00621.hp1
HG02602.hp2
NA19005.hp2
HG00621.hp1
HG02602.hp2
NA19005.hp2
 intron_variant MODIFIER c.162+7358G>A
c.162+7358G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62754810
chr2:62754934 C
C
 T
T
 1 a0001c0001t0001g0149
a0001c0001t0001g0149
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.162+7482C>T
c.162+7482C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62754934
chr2:62754959 G
G
 C
C
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.162+7507G>C
c.162+7507G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62754959
chr2:62755009 C
C
 T
T
 37 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(34): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0192
a0001c0001t0002g0037
 37 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(34): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00621.hp2
HG00738.hp2
HG01074.hp1
HG01175.hp1
HG01256.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG02165.hp1
HG02258.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18952.hp1
NA18962.hp1
NA18972.hp1
NA18995.hp2
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19057.hp2
NA20752.hp1
 intron_variant MODIFIER c.162+7557C>T
c.162+7557C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62755009
chr2:62755069 T
T
 C
C
 2 a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0018
a0001c0001t0001g0019
 2 HG02818.hp2
HG02922.hp2
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.162+7617T>C
c.162+7617T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62755069
chr2:62755160 C
C
 T
T
 1 a0002c0002t0001g0011
a0002c0002t0001g0011
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.162+7708C>T
c.162+7708C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62755160
chr2:62755413 G
G
 A
A
 3 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0008t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0008t0001g0076
 3 HG02258.hp2
HG03195.hp1
NA19043.hp1
HG02258.hp2
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.162+7961G>A
c.162+7961G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62755413
chr2:62755413 G
G
 GT
GT
 17 a0001c0001t0001g0006
a0001c0001t0001g0123
a0001c0001t0001g0127
others(14): Show 
a0001c0001t0001g0006
a0001c0001t0001g0123
a0001c0001t0001g0127
a0001c0001t0001g0138
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0173
a0001c0001t0001g0180
a0001c0001t0001g0196
a0001c0010t0001g0155
a0002c0002t0001g0125
 17 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(14): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG02071.hp1
HG02155.hp1
HG02602.hp1
HG02602.hp2
HG03098.hp1
HG03704.hp2
HG03710.hp2
NA18612.hp1
NA18951.hp2
NA18962.hp2
NA19005.hp2
NA19009.hp2
NA19065.hp2
 intron_variant MODIFIER c.162+7971dupT
c.162+7971dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 INFO_REALIGN_3_PRIME chr2 62755413
chr2:62755433 T
T
 C
C
 5 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0032
others(2): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0041
 5 HG00280.hp2
HG00738.hp2
HG01074.hp1
others(2): Show 
HG00280.hp2
HG00738.hp2
HG01074.hp1
HG02258.hp1
HG03017.hp1
 intron_variant MODIFIER c.162+7981T>C
c.162+7981T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62755433
chr2:62755509 T
T
 C
C
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.162+8057T>C
c.162+8057T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62755509
chr2:62755726 A
A
 G
G
 1 a0001c0001t0001g0193
a0001c0001t0001g0193
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.162+8274A>G
c.162+8274A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62755726
chr2:62755933 A
A
 G
G
 2 a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0128
a0001c0001t0001g0129
 2 NA18999.hp1
NA19079.hp2
NA18999.hp1
NA19079.hp2
 intron_variant MODIFIER c.163-8333A>G
c.163-8333A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62755933
chr2:62755935 G
G
 A
A
 1 a0001c0001t0002g0080
a0001c0001t0002g0080
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.163-8331G>A
c.163-8331G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62755935
chr2:62755973 G
G
 A
A
 2 a0003c0005t0001g0163
a0003c0005t0001g0164
a0003c0005t0001g0163
a0003c0005t0001g0164
 2 HG01070.hp2
HG01071.hp1
HG01070.hp2
HG01071.hp1
 intron_variant MODIFIER c.163-8293G>A
c.163-8293G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62755973
chr2:62756078 G
G
 A
A
 93 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(90): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 93 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(90): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.163-8188G>A
c.163-8188G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62756078
chr2:62756302 T
T
 C
C
 2 a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0004t0003g0114
a0001c0004t0003g0115
 2 HG02280.hp2
NA20300.hp1
HG02280.hp2
NA20300.hp1
 intron_variant MODIFIER c.163-7964T>C
c.163-7964T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62756302
chr2:62756500 G
G
 A
A
 1 a0001c0001t0001g0137
a0001c0001t0001g0137
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.163-7766G>A
c.163-7766G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62756500
chr2:62756519 A
A
 G
G
 1 a0002c0002t0001g0195
a0002c0002t0001g0195
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.163-7747A>G
c.163-7747A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62756519
chr2:62756768 CA
CA
 C
C
 89 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(86): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 89 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(86): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.163-7477delA
c.163-7477delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 INFO_REALIGN_3_PRIME chr2 62756768
chr2:62756878 A
A
 G
G
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.163-7388A>G
c.163-7388A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62756878
chr2:62757017 T
T
 G
G
 1 a0001c0004t0003g0114
a0001c0004t0003g0114
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.163-7249T>G
c.163-7249T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62757017
chr2:62757426 C
C
 CT
CT
 8 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
others(5): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0047
a0001c0001t0001g0098
a0001c0001t0001g0136
a0001c0001t0001g0148
a0002c0002t0001g0005
 8 HG00438.hp1
HG01884.hp2
HG01981.hp2
others(5): Show 
HG00438.hp1
HG01884.hp2
HG01981.hp2
HG02145.hp2
HG02818.hp2
HG03130.hp2
NA19009.hp2
NA19012.hp1
 intron_variant MODIFIER c.163-6821dupT
c.163-6821dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 INFO_REALIGN_3_PRIME chr2 62757426
chr2:62757430 T
T
 C
C
 1 a0001c0001t0001g0065
a0001c0001t0001g0065
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.163-6836T>C
c.163-6836T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62757430
chr2:62757437 T
T
 C
C
 4 a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
others(1): Show 
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
 4 HG01167.hp2
HG02280.hp2
HG02809.hp2
others(1): Show 
HG01167.hp2
HG02280.hp2
HG02809.hp2
NA20300.hp1
 intron_variant MODIFIER c.163-6829T>C
c.163-6829T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62757437
chr2:62757543 C
C
 T
T
 2 a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0119
a0001c0001t0001g0120
 2 HG02922.hp1
HG02970.hp2
HG02922.hp1
HG02970.hp2
 intron_variant MODIFIER c.163-6723C>T
c.163-6723C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62757543
chr2:62757583 G
G
 A
A
 2 a0001c0001t0001g0122
a0001c0001t0002g0080
a0001c0001t0001g0122
a0001c0001t0002g0080
 2 NA18984.hp1
NA19077.hp1
NA18984.hp1
NA19077.hp1
 intron_variant MODIFIER c.163-6683G>A
c.163-6683G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62757583
chr2:62757683 C
C
 T
T
 2 a0001c0001t0001g0198
a0004c0009t0001g0197
a0001c0001t0001g0198
a0004c0009t0001g0197
 2 HG01243.hp2
HG02622.hp2
HG01243.hp2
HG02622.hp2
 intron_variant MODIFIER c.163-6583C>T
c.163-6583C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62757683
chr2:62757694 A
A
 T
T
 1 a0001c0001t0001g0149
a0001c0001t0001g0149
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.163-6572A>T
c.163-6572A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62757694
chr2:62757911 T
T
 C
C
 2 a0001c0001t0001g0198
a0004c0009t0001g0197
a0001c0001t0001g0198
a0004c0009t0001g0197
 2 HG01243.hp2
HG02622.hp2
HG01243.hp2
HG02622.hp2
 intron_variant MODIFIER c.163-6355T>C
c.163-6355T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62757911
chr2:62758011 C
C
 CA
CA
 14 a0001c0001t0001g0035
a0001c0001t0001g0040
a0001c0001t0001g0048
others(11): Show 
a0001c0001t0001g0035
a0001c0001t0001g0040
a0001c0001t0001g0048
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0079
a0001c0001t0001g0136
a0001c0001t0001g0148
a0001c0001t0001g0162
a0001c0001t0005g0066
 14 HG01884.hp1
HG02109.hp2
HG02145.hp2
others(11): Show 
HG01884.hp1
HG02109.hp2
HG02145.hp2
HG02280.hp1
HG02559.hp2
HG02717.hp1
HG03098.hp2
HG03139.hp1
HG03540.hp1
HG04228.hp1
NA18989.hp1
NA18999.hp2
NA19009.hp2
NA19240.hp2
 intron_variant MODIFIER c.163-6237dupA
c.163-6237dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 INFO_REALIGN_3_PRIME chr2 62758011
chr2:62758370 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.163-5896A>G
c.163-5896A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62758370
chr2:62758800 CAAG
CAAG
 C
C
 2 a0002c0002t0001g0005
a0002c0002t0001g0131
a0002c0002t0001g0005
a0002c0002t0001g0131
 2 HG00438.hp1
NA18612.hp2
HG00438.hp1
NA18612.hp2
 intron_variant MODIFIER c.163-5462_163-5460d
others(5): Show 
c.163-5462_163-5460delAAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 INFO_REALIGN_3_PRIME chr2 62758800
chr2:62759586 G
G
 A
A
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.163-4680G>A
c.163-4680G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62759586
chr2:62759613 C
C
 A
A
 1 a0001c0001t0001g0177
a0001c0001t0001g0177
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.163-4653C>A
c.163-4653C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62759613
chr2:62759750 T
T
 C
C
 1 a0001c0001t0001g0127
a0001c0001t0001g0127
 1 NA18951.hp2
NA18951.hp2
 intron_variant MODIFIER c.163-4516T>C
c.163-4516T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62759750
chr2:62759884 C
C
 T
T
 1 a0002c0002t0001g0004
a0002c0002t0001g0004
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.163-4382C>T
c.163-4382C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62759884
chr2:62759929 C
C
 T
T
 1 a0001c0004t0001g0118
a0001c0004t0001g0118
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.163-4337C>T
c.163-4337C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62759929
chr2:62760327 C
C
 A
A
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.163-3939C>A
c.163-3939C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62760327
chr2:62760337 A
A
 T
T
 1 a0001c0001t0005g0066
a0001c0001t0005g0066
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.163-3929A>T
c.163-3929A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62760337
chr2:62760585 A
A
 G
G
 1 a0001c0001t0001g0178
a0001c0001t0001g0178
 1 HG02293.hp2
HG02293.hp2
 intron_variant MODIFIER c.163-3681A>G
c.163-3681A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62760585
chr2:62760600 C
C
 A
A
 52 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(49): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0005g0066
a0001c0008t0001g0076
 52 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(49): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00621.hp2
HG00738.hp2
HG01074.hp1
HG01175.hp1
HG01256.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18952.hp1
NA18962.hp1
NA18972.hp1
NA18995.hp2
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19057.hp2
NA19240.hp2
NA20752.hp1
 intron_variant MODIFIER c.163-3666C>A
c.163-3666C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62760600
chr2:62760656 T
T
 G
G
 5 a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0067
others(2): Show 
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0067
a0001c0001t0001g0079
a0001c0001t0005g0066
 5 HG02109.hp2
HG02280.hp1
HG02717.hp1
others(2): Show 
HG02109.hp2
HG02280.hp1
HG02717.hp1
HG03098.hp2
HG03540.hp1
 intron_variant MODIFIER c.163-3610T>G
c.163-3610T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62760656
chr2:62760914 A
A
 T
T
 35 a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
others(32): Show 
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0004c0009t0001g0197
 35 HG00558.hp1
HG00639.hp2
HG01070.hp1
others(32): Show 
HG00558.hp1
HG00639.hp2
HG01070.hp1
HG01243.hp1
HG01243.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG03704.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18998.hp1
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.163-3352A>T
c.163-3352A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62760914
chr2:62761034 G
G
 T
T
 89 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(86): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
 89 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(86): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.163-3232G>T
c.163-3232G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62761034
chr2:62761522 G
G
 A
A
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.163-2744G>A
c.163-2744G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62761522
chr2:62761983 G
G
 A
A
 2 a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0134
a0001c0001t0001g0135
 2 HG02970.hp1
HG03471.hp2
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.163-2283G>A
c.163-2283G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62761983
chr2:62762410 A
A
 C
C
 1 a0001c0001t0002g0087
a0001c0001t0002g0087
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.163-1856A>C
c.163-1856A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62762410
chr2:62762484 A
A
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.163-1782A>T
c.163-1782A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62762484
chr2:62763361 G
G
 A
A
 1 a0001c0001t0001g0179
a0001c0001t0001g0179
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.163-905G>A
c.163-905G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62763361
chr2:62763502 G
G
 A
A
 93 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(90): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 93 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(90): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.163-764G>A
c.163-764G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62763502
chr2:62763585 G
G
 A
A
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.163-681G>A
c.163-681G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62763585
chr2:62763943 G
G
 C
C
 1 a0001c0001t0001g0072
a0001c0001t0001g0072
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.163-323G>C
c.163-323G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62763943
chr2:62764102 A
A
 G
G
 3 a0001c0001t0001g0064
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0064
a0001c0001t0001g0116
a0001c0001t0001g0117
 3 HG02559.hp2
HG02818.hp1
HG03139.hp2
HG02559.hp2
HG02818.hp1
HG03139.hp2
 intron_variant MODIFIER c.163-164A>G
c.163-164A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62764102
chr2:62764190 A
A
 G
G
 1 a0001c0001t0001g0142
a0001c0001t0001g0142
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.163-76A>G
c.163-76A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 3/22 chr2 62764190
chr2:62764481 T
T
 C
C
 1 a0001c0001t0001g0146
a0001c0001t0001g0146
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.258+120T>C
c.258+120T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62764481
chr2:62764570 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.258+209A>G
c.258+209A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62764570
chr2:62764583 G
G
 A
A
 17 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(14): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0006t0001g0160
a0003c0005t0001g0163
a0003c0005t0001g0164
 17 HG00099.hp1
HG00639.hp1
HG00738.hp1
others(14): Show 
HG00099.hp1
HG00639.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG03491.hp1
HG03710.hp1
HG03927.hp1
NA18960.hp2
NA18972.hp2
NA18989.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.258+222G>A
c.258+222G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62764583
chr2:62764768 G
G
 A
A
 3 a0001c0001t0001g0138
a0001c0001t0001g0148
a0001c0001t0001g0154
a0001c0001t0001g0138
a0001c0001t0001g0148
a0001c0001t0001g0154
 3 HG00544.hp1
NA19009.hp2
NA19065.hp2
HG00544.hp1
NA19009.hp2
NA19065.hp2
 intron_variant MODIFIER c.258+407G>A
c.258+407G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62764768
chr2:62765107 A
A
 T
T
 1 a0001c0001t0001g0026
a0001c0001t0001g0026
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.258+746A>T
c.258+746A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62765107
chr2:62765517 T
T
 C
C
 2 a0001c0001t0001g0064
a0004c0009t0001g0197
a0001c0001t0001g0064
a0004c0009t0001g0197
 2 HG01243.hp2
HG02559.hp2
HG01243.hp2
HG02559.hp2
 intron_variant MODIFIER c.258+1156T>C
c.258+1156T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62765517
chr2:62765793 G
G
 T
T
 1 a0001c0001t0001g0182
a0001c0001t0001g0182
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.258+1432G>T
c.258+1432G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62765793
chr2:62765911 A
A
 G
G
 1 a0001c0001t0001g0184
a0001c0001t0001g0184
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.258+1550A>G
c.258+1550A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62765911
chr2:62766227 A
A
 G
G
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.258+1866A>G
c.258+1866A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62766227
chr2:62766317 G
G
 A
A
 2 a0001c0001t0001g0063
a0001c0001t0001g0067
a0001c0001t0001g0063
a0001c0001t0001g0067
 2 HG02109.hp2
HG03540.hp1
HG02109.hp2
HG03540.hp1
 intron_variant MODIFIER c.258+1956G>A
c.258+1956G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62766317
chr2:62766384 C
C
 T
T
 3 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0008t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0008t0001g0076
 3 HG02258.hp2
HG03195.hp1
NA19043.hp1
HG02258.hp2
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.258+2023C>T
c.258+2023C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62766384
chr2:62766619 G
G
 A
A
 1 a0001c0001t0001g0049
a0001c0001t0001g0049
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.258+2258G>A
c.258+2258G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62766619
chr2:62766696 T
T
 C
C
 13 a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
others(10): Show 
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
 13 HG00642.hp1
HG01261.hp1
HG01515.hp2
others(10): Show 
HG00642.hp1
HG01261.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG03130.hp1
HG03540.hp2
NA18906.hp1
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.258+2335T>C
c.258+2335T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62766696
chr2:62766808 T
T
 C
C
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.258+2447T>C
c.258+2447T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62766808
chr2:62766958 T
T
 TA
TA
 10 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
others(7): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0064
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0174
a0001c0001t0002g0101
a0001c0001t0002g0112
a0004c0009t0001g0197
 10 HG00558.hp1
HG01243.hp2
HG01884.hp2
others(7): Show 
HG00558.hp1
HG01243.hp2
HG01884.hp2
HG02135.hp1
HG02145.hp1
HG02258.hp2
HG02559.hp2
HG02818.hp2
HG03130.hp2
HG03195.hp1
 intron_variant MODIFIER c.258+2619dupA
c.258+2619dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 INFO_REALIGN_3_PRIME chr2 62766958
chr2:62766958 TA
TA
 T
T
 10 a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0058
others(7): Show 
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0058
a0001c0001t0001g0141
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0002c0002t0001g0010
 10 HG02717.hp2
HG03130.hp1
HG03490.hp2
others(7): Show 
HG02717.hp2
HG03130.hp1
HG03490.hp2
NA18906.hp1
NA18955.hp2
NA18972.hp1
NA19009.hp1
NA19057.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.258+2619delA
c.258+2619delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 INFO_REALIGN_3_PRIME chr2 62766958
chr2:62767139 GTTTA
GTTTA
 G
G
 2 a0001c0001t0001g0122
a0001c0001t0002g0080
a0001c0001t0001g0122
a0001c0001t0002g0080
 2 NA18984.hp1
NA19077.hp1
NA18984.hp1
NA19077.hp1
 intron_variant MODIFIER c.258+2783_258+2786d
others(6): Show 
c.258+2783_258+2786delTTTA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 INFO_REALIGN_3_PRIME chr2 62767139
chr2:62767622 C
C
 T
T
 1 a0001c0001t0001g0175
a0001c0001t0001g0175
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.258+3261C>T
c.258+3261C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62767622
chr2:62767810 T
T
 A
A
 1 a0002c0002t0001g0013
a0002c0002t0001g0013
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.258+3449T>A
c.258+3449T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62767810
chr2:62767811 G
G
 T
T
 1 a0002c0002t0001g0013
a0002c0002t0001g0013
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.258+3450G>T
c.258+3450G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62767811
chr2:62767833 C
C
 CA
CA
 10 a0001c0001t0001g0128
a0001c0001t0001g0147
a0001c0001t0001g0162
others(7): Show 
a0001c0001t0001g0128
a0001c0001t0001g0147
a0001c0001t0001g0162
a0001c0001t0001g0167
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0002g0112
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0006t0001g0160
 10 HG00639.hp1
HG00738.hp1
HG01346.hp1
others(7): Show 
HG00639.hp1
HG00738.hp1
HG01346.hp1
HG02071.hp1
HG02145.hp1
NA18960.hp2
NA18963.hp2
NA18989.hp1
NA19079.hp2
NA20752.hp2
 intron_variant MODIFIER c.259-3486dupA
c.259-3486dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 INFO_REALIGN_3_PRIME chr2 62767833
chr2:62767833 CA
CA
 C
C
 53 a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0015
others(50): Show 
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0129
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0004t0001g0121
a0001c0004t0003g0115
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0131
a0002c0002t0001g0195
 53 HG00099.hp2
HG00280.hp2
HG00438.hp1
others(50): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00738.hp2
HG01074.hp1
HG01123.hp1
HG01175.hp1
HG01256.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG02165.hp1
HG02258.hp1
HG02280.hp2
HG02809.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp2
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18952.hp1
NA18954.hp1
NA18962.hp1
NA18972.hp1
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19057.hp2
NA19077.hp2
NA20752.hp1
 intron_variant MODIFIER c.259-3486delA
c.259-3486delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 INFO_REALIGN_3_PRIME chr2 62767833
chr2:62767999 A
A
 G
G
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.259-3340A>G
c.259-3340A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62767999
chr2:62768048 A
A
 G
G
 101 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(98): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0182
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 101 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(98): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18984.hp2
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.259-3291A>G
c.259-3291A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62768048
chr2:62768633 T
T
 C
C
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.259-2706T>C
c.259-2706T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62768633
chr2:62768818 G
G
 A
A
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.259-2521G>A
c.259-2521G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62768818
chr2:62769082 C
C
 T
T
 1 a0001c0001t0002g0087
a0001c0001t0002g0087
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.259-2257C>T
c.259-2257C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62769082
chr2:62769178 G
G
 C
C
 2 a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0119
a0001c0001t0001g0120
 2 HG02922.hp1
HG02970.hp2
HG02922.hp1
HG02970.hp2
 intron_variant MODIFIER c.259-2161G>C
c.259-2161G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62769178
chr2:62769372 T
T
 G
G
 197 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(194): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 197 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(194): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18972.hp1
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.259-1967T>G
c.259-1967T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62769372
chr2:62769413 C
C
 T
T
 1 a0001c0001t0001g0175
a0001c0001t0001g0175
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.259-1926C>T
c.259-1926C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62769413
chr2:62769438 A
A
 G
G
 1 a0001c0001t0001g0136
a0001c0001t0001g0136
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.259-1901A>G
c.259-1901A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62769438
chr2:62769496 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.259-1843A>G
c.259-1843A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62769496
chr2:62769510 G
G
 A
A
 86 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(83): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 86 HG00099.hp2
HG00438.hp2
HG00544.hp2
others(83): Show 
HG00099.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG01070.hp1
HG01071.hp2
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.259-1829G>A
c.259-1829G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62769510
chr2:62769795 T
T
 TA
TA
 24 a0001c0001t0001g0007
a0001c0001t0001g0025
a0001c0001t0001g0031
others(21): Show 
a0001c0001t0001g0007
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0077
a0001c0001t0001g0136
a0001c0001t0001g0153
a0001c0001t0001g0181
a0001c0003t0001g0188
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
 24 HG00280.hp2
HG00438.hp1
HG00621.hp2
others(21): Show 
HG00280.hp2
HG00438.hp1
HG00621.hp2
HG00738.hp2
HG01074.hp1
HG01123.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG02145.hp2
HG02258.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp2
NA18954.hp1
NA18995.hp1
NA18999.hp2
NA19010.hp1
NA19077.hp2
NA19240.hp2
 intron_variant MODIFIER c.259-1523dupA
c.259-1523dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 INFO_REALIGN_3_PRIME chr2 62769795
chr2:62769814 AAAG
AAAG
 A
A
 29 a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
others(26): Show 
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0002g0080
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0007t0002g0097
 29 HG00544.hp2
HG00558.hp1
HG00639.hp2
others(26): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02135.hp2
HG02155.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG03704.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18998.hp1
NA19065.hp1
NA19068.hp1
NA19079.hp1
NA20805.hp2
 intron_variant MODIFIER c.259-1524_259-1522d
others(5): Show 
c.259-1524_259-1522delAAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62769814
chr2:62770143 T
T
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.259-1196T>G
c.259-1196T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62770143
chr2:62770166 A
A
 G
G
 1 a0001c0001t0001g0146
a0001c0001t0001g0146
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.259-1173A>G
c.259-1173A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62770166
chr2:62770405 G
G
 A
A
 1 a0001c0001t0002g0083
a0001c0001t0002g0083
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.259-934G>A
c.259-934G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62770405
chr2:62770672 A
A
 G
G
 1 a0001c0001t0001g0130
a0001c0001t0001g0130
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.259-667A>G
c.259-667A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62770672
chr2:62770740 A
A
 G
G
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.259-599A>G
c.259-599A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62770740
chr2:62770899 G
G
 A
A
 196 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(193): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 196 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(193): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18972.hp1
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.259-440G>A
c.259-440G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 4/22 chr2 62770899
chr2:62771459 T
T
 C
C
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.312+67T>C
c.312+67T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62771459
chr2:62771504 T
T
 C
C
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.312+112T>C
c.312+112T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62771504
chr2:62771994 G
G
 A
A
 6 a0001c0001t0001g0123
a0001c0001t0001g0133
a0001c0001t0001g0134
others(3): Show 
a0001c0001t0001g0123
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0159
 6 HG02145.hp2
HG02559.hp1
HG02622.hp1
others(3): Show 
HG02145.hp2
HG02559.hp1
HG02622.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.312+602G>A
c.312+602G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62771994
chr2:62772032 C
C
 T
T
 2 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0016
a0001c0001t0001g0017
 2 HG03195.hp2
NA19043.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.312+640C>T
c.312+640C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62772032
chr2:62772197 G
G
 A
A
 1 a0001c0001t0001g0146
a0001c0001t0001g0146
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.312+805G>A
c.312+805G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62772197
chr2:62772224 GAA
GAA
 G
G
 2 a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0171
a0001c0001t0001g0172
 2 HG01346.hp1
NA20752.hp2
HG01346.hp1
NA20752.hp2
 intron_variant MODIFIER c.312+834_312+835del
others(2): Show 
c.312+834_312+835delAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62772224
chr2:62772391 A
A
 G
G
 2 a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0119
a0001c0001t0001g0120
 2 HG02922.hp1
HG02970.hp2
HG02922.hp1
HG02970.hp2
 intron_variant MODIFIER c.312+999A>G
c.312+999A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62772391
chr2:62772521 A
A
 G
G
 1 a0001c0001t0001g0067
a0001c0001t0001g0067
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.312+1129A>G
c.312+1129A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62772521
chr2:62772979 T
T
 G
G
 2 a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0181
a0001c0001t0001g0184
 2 HG03453.hp2
NA18906.hp2
HG03453.hp2
NA18906.hp2
 intron_variant MODIFIER c.312+1587T>G
c.312+1587T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62772979
chr2:62773104 C
C
 T
T
 2 a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0119
a0001c0001t0001g0120
 2 HG02922.hp1
HG02970.hp2
HG02922.hp1
HG02970.hp2
 intron_variant MODIFIER c.312+1712C>T
c.312+1712C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62773104
chr2:62773761 G
G
 C
C
 2 a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0171
a0001c0001t0001g0172
 2 HG01346.hp1
NA20752.hp2
HG01346.hp1
NA20752.hp2
 intron_variant MODIFIER c.312+2369G>C
c.312+2369G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62773761
chr2:62773850 C
C
 CA
CA
 30 a0001c0001t0001g0006
a0001c0001t0001g0018
a0001c0001t0001g0019
others(27): Show 
a0001c0001t0001g0006
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0059
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0175
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0194
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0006t0001g0160
a0002c0002t0001g0005
a0002c0002t0001g0013
a0002c0002t0001g0131
 30 HG00438.hp1
HG00544.hp1
HG00738.hp1
others(27): Show 
HG00438.hp1
HG00544.hp1
HG00738.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01346.hp1
HG01884.hp2
HG02071.hp1
HG02165.hp2
HG02602.hp2
HG02735.hp1
HG02818.hp2
HG02922.hp2
HG03130.hp2
HG03491.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
NA18612.hp1
NA18612.hp2
NA18952.hp2
NA18960.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19065.hp2
NA19068.hp2
NA19079.hp2
NA20752.hp2
 intron_variant MODIFIER c.312+2493dupA
c.312+2493dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62773850
chr2:62773850 C
C
 CAA
CAA
 16 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0007
others(13): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0130
a0001c0001t0001g0145
a0001c0001t0001g0161
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0003c0005t0001g0163
a0003c0005t0001g0164
 16 HG00621.hp1
HG01070.hp2
HG01071.hp1
others(13): Show 
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG03239.hp2
HG03453.hp1
HG04228.hp2
NA18906.hp2
NA18972.hp2
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.312+2492_312+2493d
others(4): Show 
c.312+2492_312+2493dupAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62773850
chr2:62773850 C
C
 CAAA
CAAA
 7 a0001c0001t0001g0001
a0001c0001t0001g0057
a0001c0001t0001g0127
others(4): Show 
a0001c0001t0001g0001
a0001c0001t0001g0057
a0001c0001t0001g0127
a0001c0001t0001g0132
a0001c0001t0001g0166
a0001c0001t0001g0167
a0002c0002t0001g0008
 7 HG00099.hp1
HG00639.hp1
HG02109.hp1
others(4): Show 
HG00099.hp1
HG00639.hp1
HG02109.hp1
HG02965.hp2
NA18951.hp2
NA18954.hp1
NA20805.hp1
 intron_variant MODIFIER c.312+2491_312+2493d
others(5): Show 
c.312+2491_312+2493dupAAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62773850
chr2:62773850 CAA
CAA
 C
C
 5 a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
others(2): Show 
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0165
 5 HG00642.hp1
HG01261.hp1
HG01261.hp2
others(2): Show 
HG00642.hp1
HG01261.hp1
HG01261.hp2
HG02300.hp2
HG02698.hp2
 intron_variant MODIFIER c.312+2492_312+2493d
others(4): Show 
c.312+2492_312+2493delAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62773850
chr2:62773850 CAAAAAA
CAAAAAA
 C
C
 7 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0077
others(4): Show 
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
a0004c0009t0001g0197
 7 HG01243.hp2
HG02258.hp2
HG02717.hp1
others(4): Show 
HG01243.hp2
HG02258.hp2
HG02717.hp1
HG02809.hp1
HG03195.hp1
HG03471.hp1
NA19043.hp1
 intron_variant MODIFIER c.312+2488_312+2493d
others(8): Show 
c.312+2488_312+2493delAAAAAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62773850
chr2:62773850 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 C
C
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.312+2484_312+2493d
others(12): Show 
c.312+2484_312+2493delAAAAAAAAAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62773850
chr2:62773850 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 C
C
 4 a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
others(1): Show 
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
 4 HG01167.hp2
HG02280.hp2
HG02809.hp2
others(1): Show 
HG01167.hp2
HG02280.hp2
HG02809.hp2
NA20300.hp1
 intron_variant MODIFIER c.312+2482_312+2493d
others(14): Show 
c.312+2482_312+2493delAAAAAAAAAAAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62773850
chr2:62773850 CAAAAAAA
others(6): Show 
CAAAAAAAAAAAAA
 C
C
 78 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(75): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0002c0002t0001g0009
a0002c0002t0001g0010
 78 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(75): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01175.hp1
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03239.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19079.hp1
NA19240.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.312+2481_312+2493d
others(15): Show 
c.312+2481_312+2493delAAAAAAAAAAAAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62773850
chr2:62773850 CAAAAAAA
others(7): Show 
CAAAAAAAAAAAAAA
 C
C
 4 a0001c0001t0001g0024
a0001c0001t0002g0080
a0001c0001t0002g0086
others(1): Show 
a0001c0001t0001g0024
a0001c0001t0002g0080
a0001c0001t0002g0086
a0001c0007t0002g0097
 4 HG01070.hp1
HG01256.hp2
HG02040.hp1
others(1): Show 
HG01070.hp1
HG01256.hp2
HG02040.hp1
NA18984.hp1
 intron_variant MODIFIER c.312+2480_312+2493d
others(16): Show 
c.312+2480_312+2493delAAAAAAAAAAAAAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62773850
chr2:62773850 CAAAAAAA
others(8): Show 
CAAAAAAAAAAAAAAA
 C
C
 6 a0001c0001t0001g0122
a0001c0003t0001g0186
a0001c0003t0001g0187
others(3): Show 
a0001c0001t0001g0122
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
 6 HG02717.hp2
HG03130.hp1
NA18906.hp1
others(3): Show 
HG02717.hp2
HG03130.hp1
NA18906.hp1
NA19077.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.312+2479_312+2493d
others(17): Show 
c.312+2479_312+2493delAAAAAAAAAAAAAAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62773850
chr2:62773884 A
A
 AG
AG
 3 a0001c0001t0001g0133
a0001c0001t0001g0135
a0001c0001t0001g0174
a0001c0001t0001g0133
a0001c0001t0001g0135
a0001c0001t0001g0174
 3 HG02135.hp1
HG02559.hp1
HG03471.hp2
HG02135.hp1
HG02559.hp1
HG03471.hp2
 intron_variant MODIFIER c.312+2492_312+2493i
others(3): Show 
c.312+2492_312+2493insG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62773884
chr2:62773884 A
A
 G
G
 39 a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
others(36): Show 
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0192
a0001c0001t0002g0037
 39 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(36): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00621.hp2
HG00738.hp2
HG01074.hp1
HG01175.hp1
HG01256.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG02165.hp1
HG02258.hp1
HG02809.hp1
HG02965.hp1
HG03017.hp1
HG03195.hp2
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18952.hp1
NA18962.hp1
NA18972.hp1
NA18995.hp2
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp2
NA19057.hp2
NA20752.hp1
 intron_variant MODIFIER c.312+2492A>G
c.312+2492A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62773884
chr2:62773886 G
G
 A
A
 3 a0001c0001t0001g0175
a0002c0002t0001g0012
a0002c0002t0001g0125
a0001c0001t0001g0175
a0002c0002t0001g0012
a0002c0002t0001g0125
 3 HG02165.hp2
HG02602.hp1
NA19077.hp2
HG02165.hp2
HG02602.hp1
NA19077.hp2
 intron_variant MODIFIER c.312+2494G>A
c.312+2494G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62773886
chr2:62774004 C
C
 T
T
 38 a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
others(35): Show 
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0002g0080
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
 38 HG00544.hp2
HG00558.hp1
HG00639.hp2
others(35): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp2
HG01167.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02809.hp2
HG03704.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18998.hp1
NA19012.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.312+2612C>T
c.312+2612C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62774004
chr2:62774200 G
G
 A
A
 92 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(89): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 92 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(89): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.312+2808G>A
c.312+2808G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62774200
chr2:62774416 T
T
 A
A
 1 a0001c0008t0001g0076
a0001c0008t0001g0076
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.312+3024T>A
c.312+3024T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62774416
chr2:62774867 C
C
 A
A
 6 a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
others(3): Show 
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
 6 HG02717.hp2
HG03130.hp1
HG03540.hp2
others(3): Show 
HG02717.hp2
HG03130.hp1
HG03540.hp2
NA18906.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.312+3475C>A
c.312+3475C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62774867
chr2:62775004 A
A
 G
G
 7 a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
others(4): Show 
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0192
 7 NA18952.hp1
NA18962.hp1
NA18972.hp1
others(4): Show 
NA18952.hp1
NA18962.hp1
NA18972.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
 intron_variant MODIFIER c.312+3612A>G
c.312+3612A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62775004
chr2:62775059 C
C
 T
T
 1 a0001c0001t0001g0126
a0001c0001t0001g0126
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.312+3667C>T
c.312+3667C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62775059
chr2:62775067 A
A
 G
G
 1 a0001c0001t0002g0093
a0001c0001t0002g0093
 1 NA19012.hp2
NA19012.hp2
 intron_variant MODIFIER c.312+3675A>G
c.312+3675A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62775067
chr2:62775091 A
A
 G
G
 1 a0001c0001t0001g0172
a0001c0001t0001g0172
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.312+3699A>G
c.312+3699A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62775091
chr2:62775124 T
T
 C
C
 1 a0001c0001t0001g0130
a0001c0001t0001g0130
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.312+3732T>C
c.312+3732T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62775124
chr2:62775137 T
T
 C
C
 1 a0001c0001t0001g0184
a0001c0001t0001g0184
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.312+3745T>C
c.312+3745T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62775137
chr2:62775155 T
T
 C
C
 1 a0001c0001t0001g0150
a0001c0001t0001g0150
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.312+3763T>C
c.312+3763T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62775155
chr2:62775555 T
T
 C
C
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.312+4163T>C
c.312+4163T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62775555
chr2:62775668 G
G
 T
T
 1 a0001c0003t0001g0191
a0001c0003t0001g0191
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.312+4276G>T
c.312+4276G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62775668
chr2:62776501 G
G
 T
T
 1 a0001c0001t0002g0081
a0001c0001t0002g0081
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.312+5109G>T
c.312+5109G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62776501
chr2:62776551 C
C
 T
T
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.312+5159C>T
c.312+5159C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62776551
chr2:62777394 C
C
 CTATTTTG
others(15): Show 
CTATTTTGCAATATTTTATATGG
 3 a0001c0001t0001g0006
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0006
a0001c0001t0001g0156
a0001c0001t0001g0157
 3 HG02155.hp1
NA18612.hp1
NA18962.hp2
HG02155.hp1
NA18612.hp1
NA18962.hp2
 intron_variant MODIFIER c.312+6002_312+6003i
others(24): Show 
c.312+6002_312+6003insTATTTTGCAATATTTTATATGG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62777394
chr2:62777528 A
A
 C
C
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.312+6136A>C
c.312+6136A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62777528
chr2:62777757 T
T
 C
C
 1 a0001c0001t0001g0006
a0001c0001t0001g0006
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.312+6365T>C
c.312+6365T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62777757
chr2:62777946 T
T
 C
C
 4 a0001c0001t0001g0124
a0001c0001t0001g0158
a0001c0001t0001g0178
others(1): Show 
a0001c0001t0001g0124
a0001c0001t0001g0158
a0001c0001t0001g0178
a0001c0001t0001g0179
 4 HG01123.hp2
HG01167.hp1
HG02293.hp2
others(1): Show 
HG01123.hp2
HG01167.hp1
HG02293.hp2
NA18992.hp1
 intron_variant MODIFIER c.312+6554T>C
c.312+6554T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62777946
chr2:62778389 A
A
 G
G
 4 a0001c0001t0002g0091
a0001c0001t0002g0094
a0001c0001t0002g0099
others(1): Show 
a0001c0001t0002g0091
a0001c0001t0002g0094
a0001c0001t0002g0099
a0001c0007t0002g0097
 4 HG01070.hp1
HG01346.hp2
HG03704.hp1
others(1): Show 
HG01070.hp1
HG01346.hp2
HG03704.hp1
NA20805.hp2
 intron_variant MODIFIER c.312+6997A>G
c.312+6997A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62778389
chr2:62778541 C
C
 CA
CA
 5 a0001c0001t0001g0137
a0001c0001t0001g0145
a0001c0001t0001g0177
others(2): Show 
a0001c0001t0001g0137
a0001c0001t0001g0145
a0001c0001t0001g0177
a0001c0001t0002g0084
a0001c0001t0002g0111
 5 HG00621.hp1
HG01243.hp1
HG02015.hp1
others(2): Show 
HG00621.hp1
HG01243.hp1
HG02015.hp1
NA18954.hp2
NA19068.hp2
 intron_variant MODIFIER c.312+7168dupA
c.312+7168dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62778541
chr2:62778541 CA
CA
 C
C
 14 a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
others(11): Show 
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0165
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
 14 HG00642.hp1
HG01261.hp1
HG01261.hp2
others(11): Show 
HG00642.hp1
HG01261.hp1
HG01261.hp2
HG01515.hp2
HG02300.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG03130.hp1
HG03540.hp2
NA18906.hp1
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+7168delA
c.312+7168delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62778541
chr2:62778568 C
C
 CAGT
CAGT
 4 a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0012
others(1): Show 
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0125
 4 HG02602.hp1
NA18954.hp1
NA18995.hp1
others(1): Show 
HG02602.hp1
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.312+7180_312+7182d
others(5): Show 
c.312+7180_312+7182dupAGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62778568
chr2:62778868 G
G
 GT
GT
 101 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(98): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0182
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 101 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(98): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18984.hp2
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.312+7485dupT
c.312+7485dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62778868
chr2:62779066 A
A
 C
C
 2 a0001c0001t0001g0132
a0004c0009t0001g0197
a0001c0001t0001g0132
a0004c0009t0001g0197
 2 HG01243.hp2
HG02965.hp2
HG01243.hp2
HG02965.hp2
 intron_variant MODIFIER c.312+7674A>C
c.312+7674A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62779066
chr2:62779242 T
T
 C
C
 1 a0001c0001t0001g0054
a0001c0001t0001g0054
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.312+7850T>C
c.312+7850T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62779242
chr2:62779443 C
C
 T
T
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.312+8051C>T
c.312+8051C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62779443
chr2:62779535 T
T
 G
G
 1 a0001c0001t0001g0130
a0001c0001t0001g0130
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.312+8143T>G
c.312+8143T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62779535
chr2:62779652 C
C
 T
T
 5 a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
others(2): Show 
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0159
 5 HG02145.hp2
HG02559.hp1
HG02622.hp1
others(2): Show 
HG02145.hp2
HG02559.hp1
HG02622.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.312+8260C>T
c.312+8260C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62779652
chr2:62779924 A
A
 G
G
 100 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(97): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0182
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
 100 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(97): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18984.hp2
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.312+8532A>G
c.312+8532A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62779924
chr2:62779943 G
G
 A
A
 2 a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0062
a0001c0001t0001g0065
 2 HG03139.hp1
NA19240.hp2
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.312+8551G>A
c.312+8551G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62779943
chr2:62780230 T
T
 C
C
 3 a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0180
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0180
 3 HG00621.hp1
HG02602.hp2
NA19005.hp2
HG00621.hp1
HG02602.hp2
NA19005.hp2
 intron_variant MODIFIER c.312+8838T>C
c.312+8838T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62780230
chr2:62780331 G
G
 T
T
 1 a0001c0001t0001g0026
a0001c0001t0001g0026
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.312+8939G>T
c.312+8939G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62780331
chr2:62780463 A
A
 G
G
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.312+9071A>G
c.312+9071A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62780463
chr2:62780471 C
C
 A
A
 6 a0001c0001t0001g0123
a0001c0001t0001g0133
a0001c0001t0001g0134
others(3): Show 
a0001c0001t0001g0123
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0159
 6 HG02145.hp2
HG02559.hp1
HG02622.hp1
others(3): Show 
HG02145.hp2
HG02559.hp1
HG02622.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.312+9079C>A
c.312+9079C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62780471
chr2:62780646 A
A
 G
G
 4 a0001c0001t0001g0124
a0001c0001t0001g0158
a0001c0001t0001g0178
others(1): Show 
a0001c0001t0001g0124
a0001c0001t0001g0158
a0001c0001t0001g0178
a0001c0001t0001g0179
 4 HG01123.hp2
HG01167.hp1
HG02293.hp2
others(1): Show 
HG01123.hp2
HG01167.hp1
HG02293.hp2
NA18992.hp1
 intron_variant MODIFIER c.312+9254A>G
c.312+9254A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62780646
chr2:62780763 A
A
 G
G
 1 a0002c0002t0001g0195
a0002c0002t0001g0195
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.312+9371A>G
c.312+9371A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62780763
chr2:62780909 G
G
 A
A
 75 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(72): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
 75 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(72): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02809.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.312+9517G>A
c.312+9517G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62780909
chr2:62780911 GATT
GATT
 G
G
 104 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(101): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 104 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(101): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02559.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18906.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+9523_312+9525d
others(5): Show 
c.312+9523_312+9525delATT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62780911
chr2:62781279 T
T
 C
C
 100 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(97): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0182
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 100 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(97): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18984.hp2
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.312+9887T>C
c.312+9887T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62781279
chr2:62781368 A
A
 G
G
 1 a0002c0002t0001g0125
a0002c0002t0001g0125
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.312+9976A>G
c.312+9976A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62781368
chr2:62781690 G
G
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.312+10298G>T
c.312+10298G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62781690
chr2:62781817 A
A
 G
G
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.312+10425A>G
c.312+10425A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62781817
chr2:62781847 A
A
 G
G
 2 a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0035
a0001c0001t0001g0036
 2 HG01884.hp1
HG02965.hp1
HG01884.hp1
HG02965.hp1
 intron_variant MODIFIER c.312+10455A>G
c.312+10455A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62781847
chr2:62781934 A
A
 G
G
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.312+10542A>G
c.312+10542A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62781934
chr2:62782401 A
A
 G
G
 1 a0001c0006t0001g0160
a0001c0006t0001g0160
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.312+11009A>G
c.312+11009A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62782401
chr2:62782826 C
C
 T
T
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.312+11434C>T
c.312+11434C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62782826
chr2:62782908 C
C
 CT
CT
 23 a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
others(20): Show 
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0074
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0002g0081
a0001c0001t0002g0143
 23 HG00642.hp2
HG01123.hp2
HG01167.hp1
others(20): Show 
HG00642.hp2
HG01123.hp2
HG01167.hp1
HG01175.hp2
HG01257.hp1
HG02015.hp1
HG02040.hp2
HG02135.hp1
HG02293.hp2
HG02735.hp1
HG02735.hp2
HG03017.hp2
NA18951.hp1
NA18952.hp2
NA18955.hp2
NA18963.hp2
NA18984.hp2
NA18992.hp1
NA18998.hp2
NA18999.hp1
NA19010.hp1
NA19068.hp2
NA19079.hp2
 intron_variant MODIFIER c.312+11517dupT
c.312+11517dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62782908
chr2:62782927 C
C
 T
T
 3 a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0198
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0198
 3 HG02622.hp2
HG03453.hp2
NA18906.hp2
HG02622.hp2
HG03453.hp2
NA18906.hp2
 intron_variant MODIFIER c.312+11535C>T
c.312+11535C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62782927
chr2:62782997 A
A
 T
T
 1 a0001c0007t0002g0097
a0001c0007t0002g0097
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.312+11605A>T
c.312+11605A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62782997
chr2:62783017 G
G
 A
A
 2 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0016
a0001c0001t0001g0017
 2 HG03195.hp2
NA19043.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.312+11625G>A
c.312+11625G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62783017
chr2:62783061 G
G
 A
A
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.312+11669G>A
c.312+11669G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62783061
chr2:62783214 T
T
 C
C
 11 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(8): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0002g0176
a0001c0006t0001g0160
 11 HG00099.hp1
HG00639.hp1
HG00738.hp1
others(8): Show 
HG00099.hp1
HG00639.hp1
HG00738.hp1
HG01256.hp1
HG01258.hp1
HG01346.hp1
HG03491.hp1
HG03710.hp1
HG03927.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.312+11822T>C
c.312+11822T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62783214
chr2:62783232 C
C
 A
A
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.312+11840C>A
c.312+11840C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62783232
chr2:62783490 A
A
 G
G
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.312+12098A>G
c.312+12098A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62783490
chr2:62783755 G
G
 GGGA
GGGA
 22 a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
others(19): Show 
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0002g0080
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
 22 HG00558.hp1
HG01243.hp1
HG01257.hp2
others(19): Show 
HG00558.hp1
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02293.hp1
HG02300.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18984.hp1
NA18992.hp2
NA18998.hp1
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
 intron_variant MODIFIER c.312+12366_312+1236
others(7): Show 
c.312+12366_312+12368dupAGG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62783755
chr2:62784536 C
C
 T
T
 90 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(87): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
 90 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(87): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.312+13144C>T
c.312+13144C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62784536
chr2:62784745 G
G
 A
A
 2 a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0119
a0001c0001t0001g0120
 2 HG02922.hp1
HG02970.hp2
HG02922.hp1
HG02970.hp2
 intron_variant MODIFIER c.312+13353G>A
c.312+13353G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62784745
chr2:62785607 A
A
 G
G
 1 a0001c0001t0001g0196
a0001c0001t0001g0196
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.312+14215A>G
c.312+14215A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62785607
chr2:62785802 T
T
 C
C
 1 a0001c0003t0001g0188
a0001c0003t0001g0188
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.312+14410T>C
c.312+14410T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62785802
chr2:62786380 C
C
 G
G
 91 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(88): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
 91 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(88): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.312+14988C>G
c.312+14988C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62786380
chr2:62786896 A
A
 G
G
 1 a0001c0001t0001g0016
a0001c0001t0001g0016
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.312+15504A>G
c.312+15504A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62786896
chr2:62787110 G
G
 A
A
 2 a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0146
a0001c0001t0001g0147
 2 HG00558.hp2
HG02071.hp1
HG00558.hp2
HG02071.hp1
 intron_variant MODIFIER c.312+15718G>A
c.312+15718G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62787110
chr2:62787394 G
G
 GC
GC
 74 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
others(71): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0068
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0107
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0153
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0198
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0096
a0001c0001t0002g0100
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0168
a0001c0001t0005g0066
a0001c0003t0001g0188
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0009
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
 74 HG00544.hp1
HG00558.hp2
HG00639.hp2
others(71): Show 
HG00544.hp1
HG00558.hp2
HG00639.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01175.hp2
HG01243.hp1
HG01256.hp1
HG01261.hp1
HG01361.hp1
HG01361.hp2
HG01884.hp2
HG02071.hp1
HG02071.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp2
HG02280.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03492.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18963.hp1
NA18972.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19010.hp1
NA19068.hp1
NA19077.hp1
NA19077.hp2
NA19079.hp2
NA19240.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+16014dupC
c.312+16014dupC
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62787394
chr2:62787394 G
G
 GCC
GCC
 12 a0001c0001t0001g0003
a0001c0001t0001g0064
a0001c0001t0001g0145
others(9): Show 
a0001c0001t0001g0003
a0001c0001t0001g0064
a0001c0001t0001g0145
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0167
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0002g0113
a0001c0001t0002g0176
a0002c0002t0001g0005
a0004c0009t0001g0197
 12 HG00438.hp1
HG00621.hp1
HG00639.hp1
others(9): Show 
HG00438.hp1
HG00621.hp1
HG00639.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG02300.hp1
HG02559.hp2
HG03710.hp1
NA18989.hp1
NA20752.hp2
 intron_variant MODIFIER c.312+16013_312+1601
others(6): Show 
c.312+16013_312+16014dupCC
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62787394
chr2:62787394 GC
GC
 G
G
 26 a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
others(23): Show 
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0116
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0141
a0001c0001t0001g0166
a0001c0001t0002g0099
a0001c0004t0001g0118
 26 HG00099.hp1
HG00099.hp2
HG01074.hp1
others(23): Show 
HG00099.hp1
HG00099.hp2
HG01074.hp1
HG01167.hp2
HG01256.hp2
HG02165.hp1
HG02258.hp1
HG02818.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03195.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03831.hp1
NA18747.hp2
NA18972.hp1
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.312+16014delC
c.312+16014delC
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62787394
chr2:62787405 C
C
 G
G
 1 a0001c0003t0001g0190
a0001c0003t0001g0190
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.312+16013C>G
c.312+16013C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62787405
chr2:62787774 G
G
 A
A
 6 a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
others(3): Show 
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0002g0168
a0003c0005t0001g0163
a0003c0005t0001g0164
 6 HG01070.hp2
HG01071.hp1
HG01261.hp2
others(3): Show 
HG01070.hp2
HG01071.hp1
HG01261.hp2
NA18960.hp2
NA18972.hp2
NA18989.hp1
 intron_variant MODIFIER c.312+16382G>A
c.312+16382G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62787774
chr2:62787909 C
C
 T
T
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.312+16517C>T
c.312+16517C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62787909
chr2:62787966 TGGAGTAG
others(15): Show 
TGGAGTAGGATGGTTTCTTTACA
 T
T
 1 a0001c0001t0001g0030
a0001c0001t0001g0030
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.312+16575_312+1659
others(26): Show 
c.312+16575_312+16596delGGAGTAGGATGGTTTCTTTACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62787966
chr2:62788160 CAAT
CAAT
 C
C
 5 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0032
others(2): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0041
 5 HG00280.hp2
HG00738.hp2
HG01074.hp1
others(2): Show 
HG00280.hp2
HG00738.hp2
HG01074.hp1
HG02258.hp1
HG03017.hp1
 intron_variant MODIFIER c.312+16772_312+1677
others(7): Show 
c.312+16772_312+16774delAAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62788160
chr2:62788170 G
G
 C
C
 1 a0001c0001t0001g0132
a0001c0001t0001g0132
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.312+16778G>C
c.312+16778G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62788170
chr2:62788219 T
T
 C
C
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.312+16827T>C
c.312+16827T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62788219
chr2:62788327 C
C
 T
T
 3 a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0002g0176
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0002g0176
 3 HG03491.hp1
HG03710.hp1
HG03927.hp1
HG03491.hp1
HG03710.hp1
HG03927.hp1
 intron_variant MODIFIER c.312+16935C>T
c.312+16935C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62788327
chr2:62788423 G
G
 A
A
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.312+17031G>A
c.312+17031G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62788423
chr2:62788874 C
C
 T
T
 6 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(3): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0005g0066
 6 HG02109.hp2
HG02280.hp1
HG03098.hp2
others(3): Show 
HG02109.hp2
HG02280.hp1
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.312+17482C>T
c.312+17482C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62788874
chr2:62789071 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.312+17679A>G
c.312+17679A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62789071
chr2:62789335 C
C
 T
T
 2 a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0062
a0001c0001t0001g0065
 2 HG03139.hp1
NA19240.hp2
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.312+17943C>T
c.312+17943C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62789335
chr2:62789693 C
C
 G
G
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.312+18301C>G
c.312+18301C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62789693
chr2:62790203 T
T
 C
C
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.312+18811T>C
c.312+18811T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62790203
chr2:62790294 T
T
 C
C
 1 a0001c0001t0001g0068
a0001c0001t0001g0068
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+18902T>C
c.312+18902T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62790294
chr2:62790503 A
A
 T
T
 2 a0001c0001t0001g0140
a0001c0001t0002g0143
a0001c0001t0001g0140
a0001c0001t0002g0143
 2 NA18963.hp2
NA18998.hp2
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.312+19111A>T
c.312+19111A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62790503
chr2:62790625 C
C
 T
T
 3 a0001c0001t0001g0048
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0048
a0001c0001t0001g0054
a0001c0001t0001g0055
 3 NA18962.hp1
NA18999.hp2
NA19005.hp1
NA18962.hp1
NA18999.hp2
NA19005.hp1
 intron_variant MODIFIER c.312+19233C>T
c.312+19233C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62790625
chr2:62791010 A
A
 G
G
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.312+19618A>G
c.312+19618A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62791010
chr2:62791042 A
A
 G
G
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.312+19650A>G
c.312+19650A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62791042
chr2:62791557 A
A
 G
G
 2 a0001c0001t0001g0122
a0001c0001t0002g0080
a0001c0001t0001g0122
a0001c0001t0002g0080
 2 NA18984.hp1
NA19077.hp1
NA18984.hp1
NA19077.hp1
 intron_variant MODIFIER c.312+20165A>G
c.312+20165A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62791557
chr2:62791606 C
C
 T
T
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.312+20214C>T
c.312+20214C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62791606
chr2:62791633 G
G
 A
A
 1 a0001c0004t0001g0118
a0001c0004t0001g0118
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.312+20241G>A
c.312+20241G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62791633
chr2:62791828 A
A
 T
T
 4 a0001c0001t0001g0161
a0001c0001t0001g0165
a0003c0005t0001g0163
others(1): Show 
a0001c0001t0001g0161
a0001c0001t0001g0165
a0003c0005t0001g0163
a0003c0005t0001g0164
 4 HG01070.hp2
HG01071.hp1
HG01261.hp2
others(1): Show 
HG01070.hp2
HG01071.hp1
HG01261.hp2
NA18972.hp2
 intron_variant MODIFIER c.312+20436A>T
c.312+20436A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62791828
chr2:62791952 C
C
 T
T
 2 a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0009
a0002c0002t0001g0010
 2 HG03490.hp2
HG03492.hp2
HG03490.hp2
HG03492.hp2
 intron_variant MODIFIER c.312+20560C>T
c.312+20560C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62791952
chr2:62792124 T
T
 C
C
 1 a0001c0001t0001g0063
a0001c0001t0001g0063
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.312+20732T>C
c.312+20732T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62792124
chr2:62792373 T
T
 G
G
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.312+20981T>G
c.312+20981T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62792373
chr2:62792570 A
A
 G
G
 2 a0001c0001t0002g0090
a0001c0001t0002g0096
a0001c0001t0002g0090
a0001c0001t0002g0096
 2 HG00639.hp2
HG02698.hp1
HG00639.hp2
HG02698.hp1
 intron_variant MODIFIER c.312+21178A>G
c.312+21178A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62792570
chr2:62792680 G
G
 C
C
 99 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(96): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0182
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 99 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(96): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18984.hp2
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.312+21288G>C
c.312+21288G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62792680
chr2:62793001 G
G
 A
A
 1 a0001c0001t0001g0184
a0001c0001t0001g0184
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.312+21609G>A
c.312+21609G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62793001
chr2:62793184 T
T
 G
G
 2 a0001c0001t0002g0091
a0001c0007t0002g0097
a0001c0001t0002g0091
a0001c0007t0002g0097
 2 HG01070.hp1
HG03704.hp1
HG01070.hp1
HG03704.hp1
 intron_variant MODIFIER c.312+21792T>G
c.312+21792T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62793184
chr2:62793647 T
T
 C
C
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.312+22255T>C
c.312+22255T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62793647
chr2:62793724 G
G
 A
A
 3 a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0198
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0198
 3 HG02622.hp2
HG03453.hp2
NA18906.hp2
HG02622.hp2
HG03453.hp2
NA18906.hp2
 intron_variant MODIFIER c.312+22332G>A
c.312+22332G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62793724
chr2:62793835 A
A
 G
G
 92 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(89): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 92 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(89): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.312+22443A>G
c.312+22443A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62793835
chr2:62794619 TTA
TTA
 T
T
 2 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0022
a0001c0001t0001g0023
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.312+23229_312+2323
others(6): Show 
c.312+23229_312+23230delAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62794619
chr2:62794704 T
T
 G
G
 1 a0001c0007t0002g0097
a0001c0007t0002g0097
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.312+23312T>G
c.312+23312T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62794704
chr2:62794915 T
T
 C
C
 129 a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0022
others(126): Show 
a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0182
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0004c0009t0001g0197
 129 HG00099.hp2
HG00280.hp2
HG00438.hp1
others(126): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02559.hp2
HG02602.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp2
HG04228.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18984.hp2
NA18989.hp2
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+23523T>C
c.312+23523T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62794915
chr2:62795244 T
T
 C
C
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.312+23852T>C
c.312+23852T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62795244
chr2:62795626 A
A
 G
G
 1 a0001c0001t0001g0123
a0001c0001t0001g0123
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.312+24234A>G
c.312+24234A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62795626
chr2:62795697 G
G
 A
A
 14 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(11): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
 14 HG00642.hp1
HG01261.hp1
HG01361.hp1
others(11): Show 
HG00642.hp1
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG03130.hp1
HG03540.hp2
NA18906.hp1
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.312+24305G>A
c.312+24305G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62795697
chr2:62796275 C
C
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.312+24883C>T
c.312+24883C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62796275
chr2:62796658 T
T
 C
C
 1 a0002c0002t0001g0013
a0002c0002t0001g0013
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.312+25266T>C
c.312+25266T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62796658
chr2:62796701 T
T
 C
C
 1 a0002c0002t0001g0013
a0002c0002t0001g0013
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.312+25309T>C
c.312+25309T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62796701
chr2:62796826 CT
CT
 C
C
 7 a0001c0001t0001g0038
a0001c0001t0001g0077
a0001c0001t0001g0078
others(4): Show 
a0001c0001t0001g0038
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0158
a0001c0008t0001g0076
a0002c0002t0001g0131
 7 HG01515.hp1
HG02258.hp2
HG02717.hp1
others(4): Show 
HG01515.hp1
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA18612.hp2
NA18992.hp1
NA19043.hp1
 intron_variant MODIFIER c.312+25450delT
c.312+25450delT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62796826
chr2:62796969 A
A
 G
G
 2 a0001c0001t0001g0029
a0001c0001t0001g0034
a0001c0001t0001g0029
a0001c0001t0001g0034
 2 HG03239.hp1
HG03831.hp1
HG03239.hp1
HG03831.hp1
 intron_variant MODIFIER c.312+25577A>G
c.312+25577A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62796969
chr2:62797208 T
T
 C
C
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.312+25816T>C
c.312+25816T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62797208
chr2:62797421 G
G
 A
A
 1 a0001c0001t0001g0135
a0001c0001t0001g0135
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.312+26029G>A
c.312+26029G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62797421
chr2:62797518 G
G
 A
A
 22 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
others(19): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0098
a0001c0007t0002g0097
 22 HG00099.hp2
HG00280.hp2
HG00738.hp2
others(19): Show 
HG00099.hp2
HG00280.hp2
HG00738.hp2
HG01070.hp1
HG01074.hp1
HG01175.hp1
HG01256.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp2
HG02258.hp1
HG02965.hp1
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA19010.hp2
 intron_variant MODIFIER c.312+26126G>A
c.312+26126G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62797518
chr2:62797769 T
T
 C
C
 1 a0001c0001t0001g0184
a0001c0001t0001g0184
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.312+26377T>C
c.312+26377T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62797769
chr2:62798002 T
T
 C
C
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.312+26610T>C
c.312+26610T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62798002
chr2:62798214 A
A
 T
T
 10 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(7): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
a0001c0001t0005g0066
 10 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(7): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02818.hp1
HG02886.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.312+26822A>T
c.312+26822A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62798214
chr2:62798268 T
T
 C
C
 1 a0001c0001t0002g0091
a0001c0001t0002g0091
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.312+26876T>C
c.312+26876T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62798268
chr2:62798275 C
C
 T
T
 46 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(43): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0098
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0192
 46 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(43): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00621.hp2
HG00642.hp2
HG00738.hp2
HG01074.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01256.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp2
HG02015.hp1
HG02165.hp1
HG02258.hp1
HG02293.hp2
HG02965.hp1
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp2
NA18962.hp1
NA18972.hp1
NA18984.hp2
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19057.hp2
NA19068.hp2
NA19079.hp2
NA20752.hp1
 intron_variant MODIFIER c.312+26883C>T
c.312+26883C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62798275
chr2:62798324 C
C
 T
T
 34 a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
others(31): Show 
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0007t0002g0097
 34 HG00544.hp2
HG00558.hp1
HG00639.hp2
others(31): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18998.hp1
NA19012.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20805.hp2
 intron_variant MODIFIER c.312+26932C>T
c.312+26932C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62798324
chr2:62798815 C
C
 T
T
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.313-27272C>T
c.313-27272C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62798815
chr2:62798914 G
G
 A
A
 3 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
 3 HG01256.hp1
HG01258.hp1
NA20805.hp1
HG01256.hp1
HG01258.hp1
NA20805.hp1
 intron_variant MODIFIER c.313-27173G>A
c.313-27173G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62798914
chr2:62798982 T
T
 C
C
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.313-27105T>C
c.313-27105T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62798982
chr2:62798998 C
C
 T
T
 1 a0001c0001t0001g0006
a0001c0001t0001g0006
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.313-27089C>T
c.313-27089C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62798998
chr2:62799003 C
C
 CA
CA
 61 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(58): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0005g0066
a0001c0008t0001g0076
 61 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(58): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00621.hp2
HG00642.hp2
HG00738.hp2
HG01074.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01256.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp2
HG02015.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02293.hp2
HG02559.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp2
NA18962.hp1
NA18984.hp2
NA18995.hp2
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19057.hp2
NA19079.hp2
NA19240.hp2
NA20752.hp1
 intron_variant MODIFIER c.313-27062dupA
c.313-27062dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62799003
chr2:62799003 C
C
 CAA
CAA
 41 a0001c0001t0001g0045
a0001c0001t0001g0106
a0001c0001t0001g0107
others(38): Show 
a0001c0001t0001g0045
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
 41 HG00544.hp2
HG00558.hp1
HG00639.hp2
others(38): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp2
HG01167.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02155.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02809.hp2
HG03704.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18998.hp1
NA18999.hp1
NA19012.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19079.hp1
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.313-27063_313-2706
others(6): Show 
c.313-27063_313-27062dupAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62799003
chr2:62799003 CA
CA
 C
C
 16 a0001c0001t0001g0016
a0001c0001t0001g0127
a0001c0001t0001g0158
others(13): Show 
a0001c0001t0001g0016
a0001c0001t0001g0127
a0001c0001t0001g0158
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0003c0005t0001g0164
 16 HG00438.hp1
HG01070.hp2
HG01123.hp1
others(13): Show 
HG00438.hp1
HG01070.hp2
HG01123.hp1
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG03490.hp2
HG03492.hp2
HG03704.hp2
HG03831.hp2
NA18612.hp2
NA18951.hp2
NA18992.hp1
NA18995.hp1
NA19043.hp2
NA19077.hp2
 intron_variant MODIFIER c.313-27062delA
c.313-27062delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62799003
chr2:62799514 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.313-26573A>G
c.313-26573A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62799514
chr2:62799535 C
C
 A
A
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.313-26552C>A
c.313-26552C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62799535
chr2:62799705 G
G
 A
A
 1 a0001c0001t0001g0007
a0001c0001t0001g0007
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.313-26382G>A
c.313-26382G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62799705
chr2:62799760 T
T
 C
C
 2 a0001c0001t0001g0138
a0001c0001t0001g0148
a0001c0001t0001g0138
a0001c0001t0001g0148
 2 HG00544.hp1
NA19009.hp2
HG00544.hp1
NA19009.hp2
 intron_variant MODIFIER c.313-26327T>C
c.313-26327T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62799760
chr2:62800184 A
A
 G
G
 1 a0001c0001t0001g0154
a0001c0001t0001g0154
 1 NA19065.hp2
NA19065.hp2
 intron_variant MODIFIER c.313-25903A>G
c.313-25903A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62800184
chr2:62800202 T
T
 G
G
 16 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(13): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0002g0168
a0001c0006t0001g0160
a0003c0005t0001g0163
a0003c0005t0001g0164
 16 HG00099.hp1
HG00639.hp1
HG00738.hp1
others(13): Show 
HG00099.hp1
HG00639.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG03491.hp1
HG03927.hp1
NA18960.hp2
NA18972.hp2
NA18989.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.313-25885T>G
c.313-25885T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62800202
chr2:62800530 T
T
 C
C
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.313-25557T>C
c.313-25557T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62800530
chr2:62800536 C
C
 T
T
 91 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(88): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
 91 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(88): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.313-25551C>T
c.313-25551C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62800536
chr2:62800604 T
T
 A
A
 1 a0001c0001t0001g0162
a0001c0001t0001g0162
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.313-25483T>A
c.313-25483T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62800604
chr2:62801937 G
G
 A
A
 2 a0002c0002t0001g0005
a0002c0002t0001g0131
a0002c0002t0001g0005
a0002c0002t0001g0131
 2 HG00438.hp1
NA18612.hp2
HG00438.hp1
NA18612.hp2
 intron_variant MODIFIER c.313-24150G>A
c.313-24150G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62801937
chr2:62801976 C
C
 G
G
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 NA18952.hp1
NA18952.hp1
 intron_variant MODIFIER c.313-24111C>G
c.313-24111C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62801976
chr2:62802435 G
G
 C
C
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.313-23652G>C
c.313-23652G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62802435
chr2:62802444 G
G
 A
A
 1 a0001c0004t0001g0121
a0001c0004t0001g0121
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.313-23643G>A
c.313-23643G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62802444
chr2:62802719 C
C
 CT
CT
 13 a0001c0001t0001g0027
a0001c0001t0001g0034
a0001c0001t0001g0050
others(10): Show 
a0001c0001t0001g0027
a0001c0001t0001g0034
a0001c0001t0001g0050
a0001c0001t0001g0053
a0001c0001t0001g0063
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0177
a0001c0001t0001g0180
a0001c0001t0001g0192
a0001c0001t0002g0087
a0001c0001t0002g0176
a0002c0002t0001g0005
 13 HG00438.hp1
HG00438.hp2
HG00621.hp1
others(10): Show 
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG01175.hp2
HG02015.hp1
HG02109.hp2
HG02135.hp2
HG03710.hp1
HG03831.hp1
NA18952.hp1
NA19005.hp2
NA19010.hp2
 intron_variant MODIFIER c.313-23345dupT
c.313-23345dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62802719
chr2:62802719 CT
CT
 C
C
 8 a0001c0001t0001g0074
a0001c0001t0001g0119
a0001c0001t0001g0120
others(5): Show 
a0001c0001t0001g0074
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0123
a0001c0001t0002g0083
a0001c0001t0002g0168
a0001c0001t0004g0089
a0002c0002t0001g0010
 8 HG02015.hp2
HG02735.hp2
HG02922.hp1
others(5): Show 
HG02015.hp2
HG02735.hp2
HG02922.hp1
HG02970.hp2
HG03098.hp1
HG03490.hp2
NA18955.hp1
NA18960.hp2
 intron_variant MODIFIER c.313-23345delT
c.313-23345delT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62802719
chr2:62802773 G
G
 A
A
 1 a0001c0001t0002g0110
a0001c0001t0002g0110
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.313-23314G>A
c.313-23314G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62802773
chr2:62802798 C
C
 A
A
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.313-23289C>A
c.313-23289C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62802798
chr2:62802882 G
G
 A
A
 1 a0001c0001t0002g0176
a0001c0001t0002g0176
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.313-23205G>A
c.313-23205G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62802882
chr2:62803234 CA
CA
 C
C
 36 a0001c0001t0001g0002
a0001c0001t0001g0015
a0001c0001t0001g0022
others(33): Show 
a0001c0001t0001g0002
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0127
a0001c0001t0001g0192
 36 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(33): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00621.hp2
HG00738.hp2
HG01074.hp1
HG01175.hp1
HG01256.hp1
HG01256.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG02165.hp1
HG02258.hp1
HG02965.hp1
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp2
NA18952.hp1
NA18962.hp1
NA18972.hp1
NA18995.hp2
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19057.hp2
NA20752.hp1
 intron_variant MODIFIER c.313-22837delA
c.313-22837delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62803234
chr2:62803270 T
T
 TA
TA
 2 a0001c0001t0002g0090
a0001c0001t0002g0096
a0001c0001t0002g0090
a0001c0001t0002g0096
 2 HG00639.hp2
HG02698.hp1
HG00639.hp2
HG02698.hp1
 intron_variant MODIFIER c.313-22816dupA
c.313-22816dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62803270
chr2:62803574 T
T
 C
C
 1 a0001c0001t0001g0072
a0001c0001t0001g0072
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.313-22513T>C
c.313-22513T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62803574
chr2:62803811 C
C
 T
T
 2 a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0004t0003g0114
a0001c0004t0003g0115
 2 HG02280.hp2
NA20300.hp1
HG02280.hp2
NA20300.hp1
 intron_variant MODIFIER c.313-22276C>T
c.313-22276C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62803811
chr2:62803880 C
C
 T
T
 7 a0001c0001t0001g0074
a0001c0003t0001g0186
a0001c0003t0001g0187
others(4): Show 
a0001c0001t0001g0074
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
 7 HG02717.hp2
HG02735.hp2
HG03130.hp1
others(4): Show 
HG02717.hp2
HG02735.hp2
HG03130.hp1
HG03540.hp2
NA18906.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.313-22207C>T
c.313-22207C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62803880
chr2:62803926 GC
GC
 G
G
 91 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(88): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
 91 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(88): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.313-22158delC
c.313-22158delC
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62803926
chr2:62804063 T
T
 C
C
 7 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(4): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
 7 HG00642.hp1
HG01261.hp1
HG01361.hp1
others(4): Show 
HG00642.hp1
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-22024T>C
c.313-22024T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62804063
chr2:62804067 T
T
 C
C
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.313-22020T>C
c.313-22020T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62804067
chr2:62804243 C
C
 T
T
 1 a0001c0001t0002g0176
a0001c0001t0002g0176
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.313-21844C>T
c.313-21844C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62804243
chr2:62804592 C
C
 T
T
 2 a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0062
a0001c0001t0001g0065
 2 HG03139.hp1
NA19240.hp2
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.313-21495C>T
c.313-21495C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62804592
chr2:62804787 C
C
 T
T
 7 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(4): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
 7 HG00642.hp1
HG01261.hp1
HG01361.hp1
others(4): Show 
HG00642.hp1
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-21300C>T
c.313-21300C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62804787
chr2:62804791 C
C
 T
T
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.313-21296C>T
c.313-21296C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62804791
chr2:62804886 C
C
 T
T
 1 a0001c0001t0002g0081
a0001c0001t0002g0081
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.313-21201C>T
c.313-21201C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62804886
chr2:62804983 C
C
 T
T
 8 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(5): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
a0004c0009t0001g0197
 8 HG00642.hp1
HG01243.hp2
HG01261.hp1
others(5): Show 
HG00642.hp1
HG01243.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-21104C>T
c.313-21104C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62804983
chr2:62805468 C
C
 CT
CT
 7 a0001c0001t0001g0044
a0001c0001t0001g0077
a0001c0001t0001g0078
others(4): Show 
a0001c0001t0001g0044
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0008t0001g0076
 7 HG02258.hp2
HG02717.hp1
HG02818.hp1
others(4): Show 
HG02258.hp2
HG02717.hp1
HG02818.hp1
HG03139.hp2
HG03195.hp1
HG03471.hp1
NA19043.hp1
 intron_variant MODIFIER c.313-20602dupT
c.313-20602dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62805468
chr2:62805468 CT
CT
 C
C
 13 a0001c0001t0001g0007
a0001c0001t0001g0018
a0001c0001t0001g0019
others(10): Show 
a0001c0001t0001g0007
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0126
a0001c0001t0002g0102
 13 HG00642.hp1
HG01261.hp1
HG01361.hp1
others(10): Show 
HG00642.hp1
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG01884.hp2
HG02155.hp2
HG02300.hp2
HG02698.hp2
HG02735.hp1
HG02818.hp2
HG02922.hp2
HG03130.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-20602delT
c.313-20602delT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62805468
chr2:62805561 A
A
 T
T
 103 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(100): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
 103 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(100): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18984.hp2
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.313-20526A>T
c.313-20526A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62805561
chr2:62805849 A
A
 T
T
 1 a0001c0001t0001g0184
a0001c0001t0001g0184
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.313-20238A>T
c.313-20238A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62805849
chr2:62805939 A
A
 G
G
 1 a0001c0001t0001g0078
a0001c0001t0001g0078
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.313-20148A>G
c.313-20148A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62805939
chr2:62805983 A
A
 AT
AT
 96 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(93): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
 96 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(93): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG01070.hp1
HG01074.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02559.hp2
HG02698.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18984.hp2
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.313-20093dupT
c.313-20093dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62805983
chr2:62806064 C
C
 T
T
 2 a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0171
a0001c0001t0001g0172
 2 HG01346.hp1
NA20752.hp2
HG01346.hp1
NA20752.hp2
 intron_variant MODIFIER c.313-20023C>T
c.313-20023C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62806064
chr2:62806295 T
T
 C
C
 7 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(4): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
 7 HG00642.hp1
HG01261.hp1
HG01361.hp1
others(4): Show 
HG00642.hp1
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-19792T>C
c.313-19792T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62806295
chr2:62806498 G
G
 A
A
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.313-19589G>A
c.313-19589G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62806498
chr2:62806657 T
T
 A
A
 3 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
 3 HG01256.hp1
HG01258.hp1
NA20805.hp1
HG01256.hp1
HG01258.hp1
NA20805.hp1
 intron_variant MODIFIER c.313-19430T>A
c.313-19430T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62806657
chr2:62806725 T
T
 G
G
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.313-19362T>G
c.313-19362T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62806725
chr2:62806912 C
C
 T
T
 7 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(4): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
 7 HG00642.hp1
HG01261.hp1
HG01361.hp1
others(4): Show 
HG00642.hp1
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-19175C>T
c.313-19175C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62806912
chr2:62806972 C
C
 G
G
 1 a0001c0001t0001g0028
a0001c0001t0001g0028
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.313-19115C>G
c.313-19115C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62806972
chr2:62807362 A
A
 G
G
 2 a0001c0001t0001g0140
a0001c0001t0002g0143
a0001c0001t0001g0140
a0001c0001t0002g0143
 2 NA18963.hp2
NA18998.hp2
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.313-18725A>G
c.313-18725A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62807362
chr2:62807521 C
C
 T
T
 2 a0001c0001t0001g0029
a0001c0001t0001g0034
a0001c0001t0001g0029
a0001c0001t0001g0034
 2 HG03239.hp1
HG03831.hp1
HG03239.hp1
HG03831.hp1
 intron_variant MODIFIER c.313-18566C>T
c.313-18566C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62807521
chr2:62807548 CA
CA
 C
C
 7 a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
others(4): Show 
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0192
 7 NA18952.hp1
NA18962.hp1
NA18972.hp1
others(4): Show 
NA18952.hp1
NA18962.hp1
NA18972.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
 intron_variant MODIFIER c.313-18531delA
c.313-18531delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62807548
chr2:62807553 A
A
 T
T
 7 a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
others(4): Show 
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0192
 7 NA18952.hp1
NA18962.hp1
NA18972.hp1
others(4): Show 
NA18952.hp1
NA18962.hp1
NA18972.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
 intron_variant MODIFIER c.313-18534A>T
c.313-18534A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62807553
chr2:62807735 A
A
 G
G
 103 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(100): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
 103 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(100): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18984.hp2
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.313-18352A>G
c.313-18352A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62807735
chr2:62807941 C
C
 G
G
 1 a0001c0001t0002g0111
a0001c0001t0002g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.313-18146C>G
c.313-18146C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62807941
chr2:62808001 C
C
 T
T
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.313-18086C>T
c.313-18086C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62808001
chr2:62808050 C
C
 T
T
 2 a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0035
a0001c0001t0001g0036
 2 HG01884.hp1
HG02965.hp1
HG01884.hp1
HG02965.hp1
 intron_variant MODIFIER c.313-18037C>T
c.313-18037C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62808050
chr2:62808218 CT
CT
 C
C
 16 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(13): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0002g0168
a0001c0006t0001g0160
a0003c0005t0001g0163
a0003c0005t0001g0164
 16 HG00099.hp1
HG00639.hp1
HG00738.hp1
others(13): Show 
HG00099.hp1
HG00639.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG03491.hp1
HG03927.hp1
NA18960.hp2
NA18972.hp2
NA18989.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.313-17854delT
c.313-17854delT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62808218
chr2:62808338 T
T
 C
C
 1 a0001c0001t0001g0075
a0001c0001t0001g0075
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.313-17749T>C
c.313-17749T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62808338
chr2:62808833 T
T
 C
C
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.313-17254T>C
c.313-17254T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62808833
chr2:62808840 C
C
 T
T
 7 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(4): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
 7 HG00642.hp1
HG01261.hp1
HG01361.hp1
others(4): Show 
HG00642.hp1
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-17247C>T
c.313-17247C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62808840
chr2:62809004 C
C
 G
G
 6 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(3): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0005g0066
 6 HG02109.hp2
HG02280.hp1
HG03098.hp2
others(3): Show 
HG02109.hp2
HG02280.hp1
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.313-17083C>G
c.313-17083C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62809004
chr2:62809074 C
C
 T
T
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.313-17013C>T
c.313-17013C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62809074
chr2:62809292 G
G
 GA
GA
 29 a0001c0001t0001g0027
a0001c0001t0001g0040
a0001c0001t0001g0064
others(26): Show 
a0001c0001t0001g0027
a0001c0001t0001g0040
a0001c0001t0001g0064
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0123
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0142
a0001c0001t0001g0145
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0158
a0001c0001t0001g0169
a0001c0001t0001g0192
a0001c0001t0002g0087
a0001c0001t0002g0094
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0143
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0191
 29 HG00544.hp1
HG00621.hp1
HG01257.hp1
others(26): Show 
HG00544.hp1
HG00621.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG02040.hp2
HG02135.hp2
HG02258.hp2
HG02559.hp2
HG02717.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp2
HG03927.hp1
HG04228.hp1
NA18906.hp1
NA18952.hp1
NA18963.hp2
NA18992.hp1
NA18998.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19065.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.313-16772dupA
c.313-16772dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62809292
chr2:62809305 A
A
 AC
AC
 7 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(4): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
 7 HG00642.hp1
HG01261.hp1
HG01361.hp1
others(4): Show 
HG00642.hp1
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-16782_313-1678
others(5): Show 
c.313-16782_313-16781insC
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62809305
chr2:62809317 A
A
 G
G
 2 a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0004t0003g0114
a0001c0004t0003g0115
 2 HG02280.hp2
NA20300.hp1
HG02280.hp2
NA20300.hp1
 intron_variant MODIFIER c.313-16770A>G
c.313-16770A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62809317
chr2:62809361 C
C
 T
T
 1 a0001c0001t0001g0035
a0001c0001t0001g0035
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.313-16726C>T
c.313-16726C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62809361
chr2:62809372 A
A
 G
G
 2 a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0169
a0001c0001t0001g0170
 2 HG03491.hp1
HG03927.hp1
HG03491.hp1
HG03927.hp1
 intron_variant MODIFIER c.313-16715A>G
c.313-16715A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62809372
chr2:62809464 G
G
 A
A
 1 a0001c0001t0001g0132
a0001c0001t0001g0132
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.313-16623G>A
c.313-16623G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62809464
chr2:62809661 C
C
 G
G
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.313-16426C>G
c.313-16426C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62809661
chr2:62809802 A
A
 G
G
 1 a0001c0001t0001g0130
a0001c0001t0001g0130
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.313-16285A>G
c.313-16285A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62809802
chr2:62809852 A
A
 T
T
 2 a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0062
a0001c0001t0001g0065
 2 HG03139.hp1
NA19240.hp2
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.313-16235A>T
c.313-16235A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62809852
chr2:62810131 A
A
 G
G
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.313-15956A>G
c.313-15956A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62810131
chr2:62810395 T
T
 G
G
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.313-15692T>G
c.313-15692T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62810395
chr2:62810634 G
G
 A
A
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.313-15453G>A
c.313-15453G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62810634
chr2:62810767 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.313-15320A>G
c.313-15320A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62810767
chr2:62810802 C
C
 T
T
 7 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(4): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
 7 HG00642.hp1
HG01261.hp1
HG01361.hp1
others(4): Show 
HG00642.hp1
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-15285C>T
c.313-15285C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62810802
chr2:62810838 T
T
 C
C
 1 a0001c0001t0001g0137
a0001c0001t0001g0137
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.313-15249T>C
c.313-15249T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62810838
chr2:62810971 T
T
 G
G
 1 a0001c0001t0002g0099
a0001c0001t0002g0099
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.313-15116T>G
c.313-15116T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62810971
chr2:62811231 T
T
 C
C
 1 a0001c0001t0002g0093
a0001c0001t0002g0093
 1 NA19012.hp2
NA19012.hp2
 intron_variant MODIFIER c.313-14856T>C
c.313-14856T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62811231
chr2:62812334 G
G
 A
A
 10 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(7): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
a0001c0001t0005g0066
 10 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(7): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02818.hp1
HG02886.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.313-13753G>A
c.313-13753G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62812334
chr2:62812672 T
T
 C
C
 1 a0001c0001t0001g0150
a0001c0001t0001g0150
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.313-13415T>C
c.313-13415T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62812672
chr2:62813260 C
C
 T
T
 1 a0001c0001t0001g0137
a0001c0001t0001g0137
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.313-12827C>T
c.313-12827C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62813260
chr2:62813261 GGTAGGCC
others(3): Show 
GGTAGGCCTTA
 G
G
 2 a0001c0001t0002g0091
a0001c0007t0002g0097
a0001c0001t0002g0091
a0001c0007t0002g0097
 2 HG01070.hp1
HG03704.hp1
HG01070.hp1
HG03704.hp1
 intron_variant MODIFIER c.313-12823_313-1281
others(14): Show 
c.313-12823_313-12814delAGGCCTTAGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62813261
chr2:62813296 T
T
 C
C
 1 a0001c0003t0001g0188
a0001c0003t0001g0188
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.313-12791T>C
c.313-12791T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62813296
chr2:62813341 T
T
 C
C
 3 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
 3 HG01256.hp1
HG01258.hp1
NA20805.hp1
HG01256.hp1
HG01258.hp1
NA20805.hp1
 intron_variant MODIFIER c.313-12746T>C
c.313-12746T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62813341
chr2:62813367 A
A
 G
G
 1 a0001c0001t0001g0173
a0001c0001t0001g0173
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.313-12720A>G
c.313-12720A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62813367
chr2:62813532 G
G
 A
A
 197 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(194): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 197 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(194): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18972.hp1
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-12555G>A
c.313-12555G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62813532
chr2:62813607 T
T
 A
A
 1 a0001c0001t0002g0102
a0001c0001t0002g0102
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.313-12480T>A
c.313-12480T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62813607
chr2:62813817 T
T
 C
C
 1 a0001c0001t0001g0183
a0001c0001t0001g0183
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.313-12270T>C
c.313-12270T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62813817
chr2:62814082 A
A
 C
C
 1 a0001c0001t0001g0028
a0001c0001t0001g0028
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.313-12005A>C
c.313-12005A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62814082
chr2:62814721 A
A
 G
G
 5 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0032
others(2): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0041
 5 HG00280.hp2
HG00738.hp2
HG01074.hp1
others(2): Show 
HG00280.hp2
HG00738.hp2
HG01074.hp1
HG02258.hp1
HG03017.hp1
 intron_variant MODIFIER c.313-11366A>G
c.313-11366A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62814721
chr2:62815008 C
C
 T
T
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.313-11079C>T
c.313-11079C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62815008
chr2:62815030 A
A
 G
G
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.313-11057A>G
c.313-11057A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62815030
chr2:62815116 C
C
 T
T
 14 a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
others(11): Show 
a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
 14 HG00438.hp1
HG01074.hp2
HG01123.hp1
others(11): Show 
HG00438.hp1
HG01074.hp2
HG01123.hp1
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.313-10971C>T
c.313-10971C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62815116
chr2:62815327 C
C
 G
G
 2 a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0169
a0001c0001t0001g0170
 2 HG03491.hp1
HG03927.hp1
HG03491.hp1
HG03927.hp1
 intron_variant MODIFIER c.313-10760C>G
c.313-10760C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62815327
chr2:62815555 G
G
 A
A
 8 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(5): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
a0004c0009t0001g0197
 8 HG00642.hp1
HG01243.hp2
HG01261.hp1
others(5): Show 
HG00642.hp1
HG01243.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-10532G>A
c.313-10532G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62815555
chr2:62815733 A
A
 G
G
 10 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(7): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
a0001c0001t0005g0066
 10 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(7): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02818.hp1
HG02886.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.313-10354A>G
c.313-10354A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62815733
chr2:62815830 G
G
 A
A
 6 a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
others(3): Show 
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
 6 HG02717.hp2
HG03130.hp1
HG03540.hp2
others(3): Show 
HG02717.hp2
HG03130.hp1
HG03540.hp2
NA18906.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.313-10257G>A
c.313-10257G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62815830
chr2:62816003 A
A
 G
G
 7 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(4): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0005g0066
 7 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(4): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.313-10084A>G
c.313-10084A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62816003
chr2:62816198 C
C
 G
G
 1 a0001c0001t0001g0124
a0001c0001t0001g0124
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.313-9889C>G
c.313-9889C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62816198
chr2:62816275 A
A
 G
G
 7 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(4): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
 7 HG00642.hp1
HG01261.hp1
HG01361.hp1
others(4): Show 
HG00642.hp1
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-9812A>G
c.313-9812A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62816275
chr2:62816417 A
A
 G
G
 1 a0002c0002t0001g0004
a0002c0002t0001g0004
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.313-9670A>G
c.313-9670A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62816417
chr2:62816511 A
A
 G
G
 4 a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
others(1): Show 
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
 4 HG01167.hp2
HG02280.hp2
HG02809.hp2
others(1): Show 
HG01167.hp2
HG02280.hp2
HG02809.hp2
NA20300.hp1
 intron_variant MODIFIER c.313-9576A>G
c.313-9576A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62816511
chr2:62816708 G
G
 A
A
 1 a0001c0001t0001g0193
a0001c0001t0001g0193
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.313-9379G>A
c.313-9379G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62816708
chr2:62817469 G
G
 A
A
 1 a0001c0001t0002g0099
a0001c0001t0002g0099
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.313-8618G>A
c.313-8618G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62817469
chr2:62817520 G
G
 A
A
 37 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(34): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0192
 37 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(34): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00621.hp2
HG00738.hp2
HG01074.hp1
HG01175.hp1
HG01256.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp2
HG02165.hp1
HG02258.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18952.hp1
NA18962.hp1
NA18972.hp1
NA18995.hp2
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19057.hp2
NA20752.hp1
 intron_variant MODIFIER c.313-8567G>A
c.313-8567G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62817520
chr2:62817793 AAG
AAG
 A
A
 13 a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
others(10): Show 
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
 13 HG00438.hp1
HG01123.hp1
HG01361.hp2
others(10): Show 
HG00438.hp1
HG01123.hp1
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.313-8291_313-8290d
others(4): Show 
c.313-8291_313-8290delAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62817793
chr2:62817947 A
A
 G
G
 1 a0001c0001t0002g0110
a0001c0001t0002g0110
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.313-8140A>G
c.313-8140A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62817947
chr2:62818301 A
A
 G
G
 2 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0002
a0001c0001t0001g0003
 2 HG01256.hp1
HG01258.hp1
HG01256.hp1
HG01258.hp1
 intron_variant MODIFIER c.313-7786A>G
c.313-7786A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62818301
chr2:62818576 A
A
 T
T
 2 a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0119
a0001c0001t0001g0120
 2 HG02922.hp1
HG02970.hp2
HG02922.hp1
HG02970.hp2
 intron_variant MODIFIER c.313-7511A>T
c.313-7511A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62818576
chr2:62818597 C
C
 T
T
 1 a0001c0001t0001g0030
a0001c0001t0001g0030
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.313-7490C>T
c.313-7490C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62818597
chr2:62818853 A
A
 G
G
 35 a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
others(32): Show 
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0007t0002g0097
 35 HG00544.hp2
HG00558.hp1
HG00639.hp2
others(32): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG03704.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18998.hp1
NA19012.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20805.hp2
 intron_variant MODIFIER c.313-7234A>G
c.313-7234A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62818853
chr2:62818904 T
T
 G
G
 87 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(84): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
 87 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(84): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02698.hp1
HG02809.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18984.hp2
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.313-7183T>G
c.313-7183T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62818904
chr2:62819400 T
T
 C
C
 3 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
 3 HG01256.hp1
HG01258.hp1
NA20805.hp1
HG01256.hp1
HG01258.hp1
NA20805.hp1
 intron_variant MODIFIER c.313-6687T>C
c.313-6687T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62819400
chr2:62819490 G
G
 T
T
 1 a0001c0001t0001g0026
a0001c0001t0001g0026
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.313-6597G>T
c.313-6597G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62819490
chr2:62819703 G
G
 T
T
 1 a0001c0001t0001g0130
a0001c0001t0001g0130
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.313-6384G>T
c.313-6384G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62819703
chr2:62819771 C
C
 CA
CA
 11 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(8): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0106
a0001c0001t0001g0117
a0001c0001t0002g0091
a0001c0007t0002g0097
 11 HG00642.hp1
HG01070.hp1
HG01261.hp1
others(8): Show 
HG00642.hp1
HG01070.hp1
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
HG03139.hp2
HG03704.hp1
NA18960.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-6303dupA
c.313-6303dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62819771
chr2:62819775 A
A
 C
C
 48 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(45): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0098
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0192
 48 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(45): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00621.hp2
HG00642.hp2
HG00738.hp2
HG01074.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01256.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp2
HG02015.hp1
HG02165.hp1
HG02258.hp1
HG02293.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp2
NA18962.hp1
NA18972.hp1
NA18984.hp2
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19057.hp2
NA19068.hp2
NA19079.hp2
NA20752.hp1
 intron_variant MODIFIER c.313-6312A>C
c.313-6312A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62819775
chr2:62819778 A
A
 C
C
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.313-6309A>C
c.313-6309A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62819778
chr2:62820219 A
A
 G
G
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.313-5868A>G
c.313-5868A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62820219
chr2:62820220 A
A
 G
G
 7 a0001c0001t0001g0074
a0001c0003t0001g0186
a0001c0003t0001g0187
others(4): Show 
a0001c0001t0001g0074
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
 7 HG02717.hp2
HG02735.hp2
HG03130.hp1
others(4): Show 
HG02717.hp2
HG02735.hp2
HG03130.hp1
HG03540.hp2
NA18906.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.313-5867A>G
c.313-5867A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62820220
chr2:62820225 G
G
 GA
GA
 7 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(4): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
 7 HG00642.hp1
HG01261.hp1
HG01361.hp1
others(4): Show 
HG00642.hp1
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-5848dupA
c.313-5848dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62820225
chr2:62820255 G
G
 T
T
 2 a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0119
a0001c0001t0001g0120
 2 HG02922.hp1
HG02970.hp2
HG02922.hp1
HG02970.hp2
 intron_variant MODIFIER c.313-5832G>T
c.313-5832G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62820255
chr2:62820476 A
A
 G
G
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.313-5611A>G
c.313-5611A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62820476
chr2:62820710 G
G
 T
T
 7 a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
others(4): Show 
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0192
 7 NA18952.hp1
NA18962.hp1
NA18972.hp1
others(4): Show 
NA18952.hp1
NA18962.hp1
NA18972.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
 intron_variant MODIFIER c.313-5377G>T
c.313-5377G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62820710
chr2:62820727 GTGTGTGT
others(6): Show 
GTGTGTGTATAATA
 G
G
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.313-5358_313-5346d
others(15): Show 
c.313-5358_313-5346delGTGTGTATAATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62820727
chr2:62820731 G
G
 A
A
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.313-5356G>A
c.313-5356G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62820731
chr2:62820733 G
G
 A
A
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.313-5354G>A
c.313-5354G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62820733
chr2:62820733 GTATAATA
others(8): Show 
GTATAATATATATATA
 G
G
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.313-5349_313-5335d
others(17): Show 
c.313-5349_313-5335delATATATATATATATA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62820733
chr2:62820735 A
A
 G
G
 4 a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0098
others(1): Show 
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0098
a0001c0001t0001g0123
 4 HG01981.hp2
HG03098.hp1
HG03139.hp1
others(1): Show 
HG01981.hp2
HG03098.hp1
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.313-5352A>G
c.313-5352A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62820735
chr2:62820737 A
A
 AAT
AAT
 28 a0001c0001t0001g0015
a0001c0001t0001g0024
a0001c0001t0001g0025
others(25): Show 
a0001c0001t0001g0015
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0072
a0001c0001t0001g0119
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0171
a0001c0001t0001g0180
a0001c0001t0001g0194
a0001c0001t0002g0088
a0001c0001t0002g0113
a0001c0001t0002g0176
a0001c0003t0001g0189
a0001c0004t0001g0118
a0001c0007t0002g0097
a0002c0002t0001g0008
a0002c0002t0001g0013
a0002c0002t0001g0071
a0002c0002t0001g0125
a0004c0009t0001g0197
 28 HG00099.hp2
HG00558.hp2
HG00642.hp1
others(25): Show 
HG00099.hp2
HG00558.hp2
HG00642.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01123.hp1
HG01167.hp2
HG01243.hp2
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG02165.hp1
HG02258.hp1
HG02300.hp1
HG02559.hp1
HG02602.hp1
HG02717.hp2
HG02970.hp1
HG02970.hp2
HG03710.hp1
NA18954.hp1
NA18972.hp2
NA19005.hp2
NA19009.hp2
 intron_variant MODIFIER c.313-5307_313-5306d
others(4): Show 
c.313-5307_313-5306dupAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62820737
chr2:62820737 A
A
 AATAT
AATAT
 25 a0001c0001t0001g0032
a0001c0001t0001g0034
a0001c0001t0001g0039
others(22): Show 
a0001c0001t0001g0032
a0001c0001t0001g0034
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0055
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0136
a0001c0001t0001g0159
a0001c0001t0002g0081
a0001c0001t0002g0090
a0001c0001t0002g0099
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0002c0002t0001g0004
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
 25 HG00280.hp2
HG00639.hp2
HG00738.hp1
others(22): Show 
HG00280.hp2
HG00639.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp1
HG01175.hp1
HG01257.hp2
HG01258.hp2
HG02145.hp2
HG02622.hp1
HG02886.hp1
HG03139.hp2
HG03490.hp2
HG03492.hp2
HG03540.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp2
NA18906.hp1
NA18951.hp1
NA18962.hp1
NA19077.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-5309_313-5306d
others(6): Show 
c.313-5309_313-5306dupATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62820737
chr2:62820737 A
A
 AATATAT
AATATAT
 13 a0001c0001t0001g0033
a0001c0001t0001g0061
a0001c0001t0001g0079
others(10): Show 
a0001c0001t0001g0033
a0001c0001t0001g0061
a0001c0001t0001g0079
a0001c0001t0001g0116
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0149
a0001c0001t0002g0091
a0001c0001t0002g0096
a0001c0001t0002g0102
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0112
 13 HG02145.hp1
HG02155.hp2
HG02280.hp1
others(10): Show 
HG02145.hp1
HG02155.hp2
HG02280.hp1
HG02602.hp2
HG02698.hp1
HG02717.hp1
HG02818.hp1
HG02922.hp1
HG03017.hp1
HG03704.hp1
NA18992.hp2
NA19068.hp1
NA19077.hp1
 intron_variant MODIFIER c.313-5311_313-5306d
others(8): Show 
c.313-5311_313-5306dupATATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62820737
chr2:62820737 A
A
 AATATATA
others(1): Show 
AATATATAT
 13 a0001c0001t0001g0054
a0001c0001t0001g0077
a0001c0001t0001g0078
others(10): Show 
a0001c0001t0001g0054
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0094
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0103
a0001c0001t0002g0111
a0001c0010t0001g0155
 13 HG00558.hp1
HG01243.hp1
HG01346.hp2
others(10): Show 
HG00558.hp1
HG01243.hp1
HG01346.hp2
HG02071.hp2
HG02258.hp2
HG02293.hp1
HG03195.hp1
HG03704.hp2
NA18954.hp2
NA18960.hp1
NA18963.hp1
NA18998.hp1
NA19005.hp1
 intron_variant MODIFIER c.313-5313_313-5306d
others(10): Show 
c.313-5313_313-5306dupATATATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62820737
chr2:62820737 A
A
 AATATATA
others(3): Show 
AATATATATAT
 6 a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0002g0083
others(3): Show 
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0002g0083
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0110
 6 HG02040.hp1
HG02135.hp2
HG03490.hp1
others(3): Show 
HG02040.hp1
HG02135.hp2
HG03490.hp1
NA18955.hp1
NA19010.hp2
NA19065.hp1
 intron_variant MODIFIER c.313-5315_313-5306d
others(12): Show 
c.313-5315_313-5306dupATATATATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62820737
chr2:62820737 A
A
 AATATATA
others(5): Show 
AATATATATATAT
 1 a0001c0001t0001g0048
a0001c0001t0001g0048
 1 NA18999.hp2
NA18999.hp2
 intron_variant MODIFIER c.313-5317_313-5306d
others(14): Show 
c.313-5317_313-5306dupATATATATATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62820737
chr2:62820737 A
A
 AATATATA
others(7): Show 
AATATATATATATAT
 1 a0001c0001t0002g0080
a0001c0001t0002g0080
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.313-5319_313-5306d
others(16): Show 
c.313-5319_313-5306dupATATATATATATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62820737
chr2:62820737 A
A
 AATATATA
others(11): Show 
AATATATATATATATATAT
 1 a0001c0001t0004g0089
a0001c0001t0004g0089
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.313-5323_313-5306d
others(20): Show 
c.313-5323_313-5306dupATATATATATATATATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62820737
chr2:62820737 A
A
 ATAATAT
ATAATAT
 2 a0001c0001t0001g0062
a0001c0001t0001g0098
a0001c0001t0001g0062
a0001c0001t0001g0098
 2 HG01981.hp2
NA19240.hp2
HG01981.hp2
NA19240.hp2
 intron_variant MODIFIER c.313-5350_313-5349i
others(8): Show 
c.313-5350_313-5349insTAATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62820737
chr2:62820737 AAT
AAT
 A
A
 23 a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0016
others(20): Show 
a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0020
a0001c0001t0001g0028
a0001c0001t0001g0043
a0001c0001t0001g0067
a0001c0001t0001g0074
a0001c0001t0001g0135
a0001c0001t0001g0138
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0002g0037
a0001c0001t0005g0066
a0001c0008t0001g0076
a0002c0002t0001g0011
a0002c0002t0001g0014
a0002c0002t0001g0131
 23 HG00099.hp1
HG00544.hp1
HG01496.hp1
others(20): Show 
HG00099.hp1
HG00544.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01981.hp1
HG02735.hp2
HG02809.hp1
HG03098.hp2
HG03195.hp2
HG03471.hp2
HG03491.hp1
HG03540.hp1
HG03710.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18952.hp1
NA18995.hp1
NA19043.hp1
NA19043.hp2
NA20805.hp1
 intron_variant MODIFIER c.313-5307_313-5306d
others(4): Show 
c.313-5307_313-5306delAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62820737
chr2:62820737 AATAT
AATAT
 A
A
 22 a0001c0001t0001g0007
a0001c0001t0001g0018
a0001c0001t0001g0019
others(19): Show 
a0001c0001t0001g0007
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0044
a0001c0001t0001g0056
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0152
a0001c0001t0001g0157
a0001c0001t0001g0162
a0001c0001t0001g0177
a0001c0001t0002g0085
a0001c0001t0002g0095
a0001c0001t0002g0168
a0001c0004t0001g0121
a0001c0004t0003g0115
 22 HG00621.hp1
HG01175.hp2
HG01361.hp1
others(19): Show 
HG00621.hp1
HG01175.hp2
HG01361.hp1
HG01515.hp2
HG01884.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp1
HG02280.hp2
HG02300.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG03239.hp2
HG03471.hp1
NA18951.hp2
NA18960.hp2
NA18989.hp1
NA18989.hp2
NA19079.hp1
NA20752.hp1
 intron_variant MODIFIER c.313-5309_313-5306d
others(6): Show 
c.313-5309_313-5306delATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62820737
chr2:62820737 AATATAT
AATATAT
 A
A
 14 a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
others(11): Show 
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0075
a0001c0001t0001g0126
a0001c0001t0001g0132
a0001c0001t0001g0139
a0001c0001t0001g0142
a0001c0001t0001g0153
a0001c0001t0001g0156
a0001c0001t0001g0167
a0001c0001t0001g0183
a0001c0001t0001g0196
a0001c0004t0003g0114
 14 HG00280.hp1
HG00639.hp1
HG01257.hp1
others(11): Show 
HG00280.hp1
HG00639.hp1
HG01257.hp1
HG01261.hp1
HG02735.hp1
HG02965.hp2
HG03017.hp2
HG03453.hp1
NA18962.hp2
NA18972.hp1
NA19009.hp1
NA19010.hp1
NA19012.hp1
NA20300.hp1
 intron_variant MODIFIER c.313-5311_313-5306d
others(8): Show 
c.313-5311_313-5306delATATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62820737
chr2:62820737 AATATATA
others(1): Show 
AATATATAT
 A
A
 11 a0001c0001t0001g0057
a0001c0001t0001g0124
a0001c0001t0001g0128
others(8): Show 
a0001c0001t0001g0057
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0140
a0001c0001t0001g0158
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0002g0143
 11 HG00642.hp2
HG01123.hp2
HG01167.hp1
others(8): Show 
HG00642.hp2
HG01123.hp2
HG01167.hp1
HG02109.hp1
HG02293.hp2
NA18963.hp2
NA18992.hp1
NA18998.hp2
NA18999.hp1
NA19068.hp2
NA19079.hp2
 intron_variant MODIFIER c.313-5313_313-5306d
others(10): Show 
c.313-5313_313-5306delATATATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62820737
chr2:62820737 AATATATA
others(3): Show 
AATATATATAT
 A
A
 5 a0001c0001t0001g0021
a0001c0001t0001g0058
a0001c0001t0001g0059
others(2): Show 
a0001c0001t0001g0021
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0150
 5 HG03130.hp2
NA18747.hp1
NA18952.hp2
others(2): Show 
HG03130.hp2
NA18747.hp1
NA18952.hp2
NA18955.hp2
NA18984.hp2
 intron_variant MODIFIER c.313-5315_313-5306d
others(12): Show 
c.313-5315_313-5306delATATATATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62820737
chr2:62820737 AATATATA
others(5): Show 
AATATATATATAT
 A
A
 3 a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0002g0092
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0002g0092
 3 HG00544.hp2
HG02135.hp1
HG02165.hp2
HG00544.hp2
HG02135.hp1
HG02165.hp2
 intron_variant MODIFIER c.313-5317_313-5306d
others(14): Show 
c.313-5317_313-5306delATATATATATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62820737
chr2:62820737 AATATATA
others(7): Show 
AATATATATATATAT
 A
A
 2 a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0001t0001g0141
a0001c0001t0001g0147
 2 HG02071.hp1
NA19057.hp1
HG02071.hp1
NA19057.hp1
 intron_variant MODIFIER c.313-5319_313-5306d
others(16): Show 
c.313-5319_313-5306delATATATATATATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62820737
chr2:62820737 AATATATA
others(11): Show 
AATATATATATATATATAT
 A
A
 1 a0001c0001t0002g0093
a0001c0001t0002g0093
 1 NA19012.hp2
NA19012.hp2
 intron_variant MODIFIER c.313-5323_313-5306d
others(20): Show 
c.313-5323_313-5306delATATATATATATATATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62820737
chr2:62820737 AATATATA
others(19): Show 
AATATATATATATATATATATATATAT
 A
A
 1 a0001c0001t0001g0154
a0001c0001t0001g0154
 1 NA19065.hp2
NA19065.hp2
 intron_variant MODIFIER c.313-5331_313-5306d
others(28): Show 
c.313-5331_313-5306delATATATATATATATATATATATATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 INFO_REALIGN_3_PRIME chr2 62820737
chr2:62820740 AT
AT
 A
A
 2 a0001c0001t0001g0123
a0001c0001t0001g0184
a0001c0001t0001g0123
a0001c0001t0001g0184
 2 HG03098.hp1
NA18906.hp2
HG03098.hp1
NA18906.hp2
 intron_variant MODIFIER c.313-5346delT
c.313-5346delT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62820740
chr2:62820750 A
A
 G
G
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.313-5337A>G
c.313-5337A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62820750
chr2:62820838 G
G
 C
C
 85 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(82): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
 85 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(82): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.313-5249G>C
c.313-5249G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62820838
chr2:62820847 A
A
 C
C
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.313-5240A>C
c.313-5240A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62820847
chr2:62820858 C
C
 G
G
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.313-5229C>G
c.313-5229C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62820858
chr2:62821117 A
A
 G
G
 2 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0116
a0001c0001t0001g0117
 2 HG02818.hp1
HG03139.hp2
HG02818.hp1
HG03139.hp2
 intron_variant MODIFIER c.313-4970A>G
c.313-4970A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62821117
chr2:62821132 G
G
 C
C
 7 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(4): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
 7 HG00642.hp1
HG01261.hp1
HG01361.hp1
others(4): Show 
HG00642.hp1
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-4955G>C
c.313-4955G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62821132
chr2:62821282 A
A
 G
G
 37 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(34): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0192
 37 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(34): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00621.hp2
HG00738.hp2
HG01074.hp1
HG01175.hp1
HG01256.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp2
HG02165.hp1
HG02258.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18952.hp1
NA18962.hp1
NA18972.hp1
NA18995.hp2
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19057.hp2
NA20752.hp1
 intron_variant MODIFIER c.313-4805A>G
c.313-4805A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62821282
chr2:62821313 A
A
 G
G
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.313-4774A>G
c.313-4774A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62821313
chr2:62821483 G
G
 A
A
 1 a0001c0001t0002g0096
a0001c0001t0002g0096
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.313-4604G>A
c.313-4604G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62821483
chr2:62822152 T
T
 C
C
 1 a0001c0003t0001g0191
a0001c0003t0001g0191
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.313-3935T>C
c.313-3935T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62822152
chr2:62822253 T
T
 A
A
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.313-3834T>A
c.313-3834T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62822253
chr2:62822341 T
T
 C
C
 2 a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0001g0118
a0001c0004t0001g0121
 2 HG01167.hp2
HG02809.hp2
HG01167.hp2
HG02809.hp2
 intron_variant MODIFIER c.313-3746T>C
c.313-3746T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62822341
chr2:62822623 C
C
 T
T
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.313-3464C>T
c.313-3464C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62822623
chr2:62822963 T
T
 A
A
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.313-3124T>A
c.313-3124T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62822963
chr2:62823309 T
T
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.313-2778T>G
c.313-2778T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62823309
chr2:62824232 A
A
 G
G
 8 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(5): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
a0004c0009t0001g0197
 8 HG00642.hp1
HG01243.hp2
HG01261.hp1
others(5): Show 
HG00642.hp1
HG01243.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-1855A>G
c.313-1855A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62824232
chr2:62824700 G
G
 C
C
 1 a0001c0001t0001g0152
a0001c0001t0001g0152
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.313-1387G>C
c.313-1387G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62824700
chr2:62824907 G
G
 T
T
 6 a0001c0001t0001g0123
a0001c0001t0001g0133
a0001c0001t0001g0134
others(3): Show 
a0001c0001t0001g0123
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0159
 6 HG02145.hp2
HG02559.hp1
HG02622.hp1
others(3): Show 
HG02145.hp2
HG02559.hp1
HG02622.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.313-1180G>T
c.313-1180G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62824907
chr2:62825090 A
A
 C
C
 6 a0001c0001t0001g0123
a0001c0001t0001g0133
a0001c0001t0001g0134
others(3): Show 
a0001c0001t0001g0123
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0159
 6 HG02145.hp2
HG02559.hp1
HG02622.hp1
others(3): Show 
HG02145.hp2
HG02559.hp1
HG02622.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.313-997A>C
c.313-997A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62825090
chr2:62825240 G
G
 A
A
 1 a0001c0001t0001g0130
a0001c0001t0001g0130
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.313-847G>A
c.313-847G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62825240
chr2:62825564 A
A
 T
T
 1 a0001c0007t0002g0097
a0001c0007t0002g0097
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.313-523A>T
c.313-523A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62825564
chr2:62825702 T
T
 A
A
 1 a0001c0001t0001g0117
a0001c0001t0001g0117
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.313-385T>A
c.313-385T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62825702
chr2:62825825 C
C
 T
T
 37 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(34): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0192
 37 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(34): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00621.hp2
HG00738.hp2
HG01074.hp1
HG01175.hp1
HG01256.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp2
HG02165.hp1
HG02258.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18952.hp1
NA18962.hp1
NA18972.hp1
NA18995.hp2
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19057.hp2
NA20752.hp1
 intron_variant MODIFIER c.313-262C>T
c.313-262C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62825825
chr2:62825908 T
T
 A
A
 3 a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
 3 HG02559.hp1
HG02970.hp1
HG03471.hp2
HG02559.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.313-179T>A
c.313-179T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62825908
chr2:62825913 G
G
 A
A
 100 a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0022
others(97): Show 
a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 100 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(97): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02559.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.313-174G>A
c.313-174G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62825913
chr2:62826045 A
A
 G
G
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.313-42A>G
c.313-42A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 5/22 chr2 62826045
chr2:62826289 A
A
 T
T
 5 a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
others(2): Show 
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
 5 HG02717.hp2
HG03130.hp1
NA18906.hp1
others(2): Show 
HG02717.hp2
HG03130.hp1
NA18906.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.494+21A>T
c.494+21A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62826289
chr2:62826944 C
C
 T
T
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.494+676C>T
c.494+676C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62826944
chr2:62826960 G
G
 A
A
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.494+692G>A
c.494+692G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62826960
chr2:62827190 A
A
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.494+922A>T
c.494+922A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62827190
chr2:62827229 C
C
 T
T
 1 a0002c0002t0001g0131
a0002c0002t0001g0131
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.494+961C>T
c.494+961C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62827229
chr2:62827277 G
G
 T
T
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.494+1009G>T
c.494+1009G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62827277
chr2:62827723 A
A
 G
G
 2 a0001c0001t0002g0091
a0001c0007t0002g0097
a0001c0001t0002g0091
a0001c0007t0002g0097
 2 HG01070.hp1
HG03704.hp1
HG01070.hp1
HG03704.hp1
 intron_variant MODIFIER c.494+1455A>G
c.494+1455A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62827723
chr2:62827958 C
C
 T
T
 1 a0002c0002t0001g0005
a0002c0002t0001g0005
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.494+1690C>T
c.494+1690C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62827958
chr2:62828204 C
C
 T
T
 1 a0001c0001t0001g0170
a0001c0001t0001g0170
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.494+1936C>T
c.494+1936C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62828204
chr2:62828412 G
G
 A
A
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.494+2144G>A
c.494+2144G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62828412
chr2:62828436 A
A
 T
T
 1 a0001c0001t0002g0091
a0001c0001t0002g0091
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.494+2168A>T
c.494+2168A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62828436
chr2:62829115 TAAAAAAA
others(6): Show 
TAAAAAAAAGAAAA
 T
T
 1 a0002c0002t0001g0195
a0002c0002t0001g0195
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.495-1890_495-1878d
others(15): Show 
c.495-1890_495-1878delAAAAAAAAGAAAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 INFO_REALIGN_3_PRIME chr2 62829115
chr2:62829163 A
A
 T
T
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.495-1856A>T
c.495-1856A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62829163
chr2:62829270 C
C
 T
T
 1 a0001c0001t0001g0123
a0001c0001t0001g0123
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.495-1749C>T
c.495-1749C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62829270
chr2:62829371 C
C
 G
G
 1 a0001c0001t0001g0149
a0001c0001t0001g0149
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.495-1648C>G
c.495-1648C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62829371
chr2:62829571 T
T
 TTG
TTG
 7 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(4): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
 7 HG00642.hp1
HG01261.hp1
HG01361.hp1
others(4): Show 
HG00642.hp1
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.495-1424_495-1423d
others(4): Show 
c.495-1424_495-1423dupGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 INFO_REALIGN_3_PRIME chr2 62829571
chr2:62829571 TTG
TTG
 T
T
 139 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(136): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0168
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
 139 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(136): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04228.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18972.hp2
NA18984.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19068.hp1
NA19077.hp1
NA19077.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.495-1424_495-1423d
others(4): Show 
c.495-1424_495-1423delGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 INFO_REALIGN_3_PRIME chr2 62829571
chr2:62829597 A
A
 G
G
 1 a0001c0006t0001g0160
a0001c0006t0001g0160
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.495-1422A>G
c.495-1422A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62829597
chr2:62830125 A
A
 G
G
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.495-894A>G
c.495-894A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62830125
chr2:62830140 A
A
 T
T
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.495-879A>T
c.495-879A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62830140
chr2:62830151 TAGACACA
others(1): Show 
TAGACACAC
 T
T
 7 a0001c0001t0001g0029
a0001c0001t0001g0032
a0001c0001t0001g0033
others(4): Show 
a0001c0001t0001g0029
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0098
 7 HG00280.hp2
HG00738.hp2
HG01981.hp2
others(4): Show 
HG00280.hp2
HG00738.hp2
HG01981.hp2
HG03017.hp1
HG03239.hp1
HG03831.hp1
HG03927.hp2
 intron_variant MODIFIER c.495-866_495-859del
others(8): Show 
c.495-866_495-859delGACACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 INFO_REALIGN_3_PRIME chr2 62830151
chr2:62830151 TAGACACA
others(3): Show 
TAGACACACAC
 T
T
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.495-866_495-857del
others(10): Show 
c.495-866_495-857delGACACACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 INFO_REALIGN_3_PRIME chr2 62830151
chr2:62830153 G
G
 C
C
 2 a0001c0001t0001g0122
a0001c0001t0001g0136
a0001c0001t0001g0122
a0001c0001t0001g0136
 2 HG02145.hp2
NA19077.hp1
HG02145.hp2
NA19077.hp1
 intron_variant MODIFIER c.495-866G>C
c.495-866G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62830153
chr2:62830153 G
G
 GAC
GAC
 24 a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
others(21): Show 
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0050
a0001c0001t0001g0055
a0001c0001t0001g0106
a0001c0001t0001g0126
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0171
a0001c0001t0001g0173
a0001c0001t0001g0175
a0001c0001t0002g0084
a0001c0001t0002g0088
a0001c0001t0002g0096
a0001c0001t0002g0103
a0001c0004t0001g0121
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0131
 24 HG00438.hp1
HG00621.hp2
HG01071.hp2
others(21): Show 
HG00438.hp1
HG00621.hp2
HG01071.hp2
HG01346.hp1
HG01884.hp2
HG02165.hp2
HG02293.hp1
HG02622.hp1
HG02698.hp1
HG02735.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG03130.hp2
HG03710.hp2
HG03831.hp2
NA18612.hp2
NA18747.hp1
NA18954.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18992.hp1
NA19065.hp2
 intron_variant MODIFIER c.495-824_495-823dup
others(2): Show 
c.495-824_495-823dupCA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 INFO_REALIGN_3_PRIME chr2 62830153
chr2:62830153 G
G
 GACAC
GACAC
 25 a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
others(22): Show 
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0074
a0001c0001t0001g0127
a0001c0001t0001g0132
a0001c0001t0001g0138
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0167
a0001c0001t0001g0174
a0001c0001t0001g0180
a0001c0001t0002g0080
a0001c0001t0002g0086
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0004t0001g0118
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
 25 HG00438.hp2
HG00544.hp1
HG00639.hp1
others(22): Show 
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG01070.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp1
HG02071.hp1
HG02135.hp1
HG02165.hp1
HG02280.hp2
HG02735.hp2
HG02965.hp2
HG03195.hp2
NA18747.hp2
NA18951.hp2
NA18984.hp1
NA18995.hp2
NA18999.hp2
NA19005.hp2
NA19009.hp2
NA19012.hp2
NA19043.hp2
NA19057.hp2
NA20300.hp1
 intron_variant MODIFIER c.495-826_495-823dup
others(4): Show 
c.495-826_495-823dupCACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 INFO_REALIGN_3_PRIME chr2 62830153
chr2:62830153 G
G
 GACACAC
GACACAC
 26 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(23): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0054
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0123
a0001c0001t0001g0146
a0001c0001t0001g0161
a0001c0001t0001g0169
a0001c0001t0001g0172
a0001c0001t0001g0193
a0001c0001t0001g0196
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0099
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0010t0001g0155
 26 HG00280.hp1
HG00558.hp2
HG00639.hp2
others(23): Show 
HG00280.hp1
HG00558.hp2
HG00639.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG02145.hp1
HG02300.hp1
HG02922.hp1
HG02970.hp2
HG03098.hp1
HG03704.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18972.hp1
NA18972.hp2
NA18992.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19068.hp1
NA19079.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.495-828_495-823dup
others(6): Show 
c.495-828_495-823dupCACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 INFO_REALIGN_3_PRIME chr2 62830153
chr2:62830153 G
G
 GACACACA
others(1): Show 
GACACACAC
 21 a0001c0001t0001g0057
a0001c0001t0001g0107
a0001c0001t0001g0145
others(18): Show 
a0001c0001t0001g0057
a0001c0001t0001g0107
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0162
a0001c0001t0001g0166
a0001c0001t0001g0170
a0001c0001t0001g0183
a0001c0001t0001g0192
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0087
a0001c0001t0002g0095
a0001c0001t0002g0100
a0001c0001t0002g0102
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0110
a0001c0001t0004g0089
a0001c0006t0001g0160
 21 HG00099.hp1
HG00621.hp1
HG00738.hp1
others(18): Show 
HG00099.hp1
HG00621.hp1
HG00738.hp1
HG01257.hp2
HG01258.hp2
HG02015.hp2
HG02071.hp2
HG02109.hp1
HG02135.hp2
HG02155.hp2
HG02602.hp2
HG03453.hp1
HG03491.hp1
NA18951.hp1
NA18952.hp1
NA18955.hp1
NA18963.hp1
NA18989.hp1
NA18989.hp2
NA18998.hp1
NA19065.hp1
 intron_variant MODIFIER c.495-830_495-823dup
others(8): Show 
c.495-830_495-823dupCACACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 INFO_REALIGN_3_PRIME chr2 62830153
chr2:62830153 G
G
 GACACACA
others(3): Show 
GACACACACAC
 4 a0001c0001t0002g0037
a0001c0001t0002g0168
a0003c0005t0001g0163
others(1): Show 
a0001c0001t0002g0037
a0001c0001t0002g0168
a0003c0005t0001g0163
a0003c0005t0001g0164
 4 HG01070.hp2
HG01071.hp1
HG01981.hp1
others(1): Show 
HG01070.hp2
HG01071.hp1
HG01981.hp1
NA18960.hp2
 intron_variant MODIFIER c.495-832_495-823dup
others(10): Show 
c.495-832_495-823dupCACACACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 INFO_REALIGN_3_PRIME chr2 62830153
chr2:62830153 G
G
 GACACACA
others(5): Show 
GACACACACACAC
 1 a0001c0001t0001g0165
a0001c0001t0001g0165
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.495-834_495-823dup
others(12): Show 
c.495-834_495-823dupCACACACACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 INFO_REALIGN_3_PRIME chr2 62830153
chr2:62830153 G
G
 GACACACA
others(7): Show 
GACACACACACACAC
 1 a0001c0001t0002g0092
a0001c0001t0002g0092
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.495-836_495-823dup
others(14): Show 
c.495-836_495-823dupCACACACACACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 INFO_REALIGN_3_PRIME chr2 62830153
chr2:62830153 GAC
GAC
 G
G
 7 a0001c0001t0001g0079
a0001c0001t0001g0134
a0001c0001t0001g0135
others(4): Show 
a0001c0001t0001g0079
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0198
a0001c0001t0002g0143
 7 HG02622.hp2
HG02717.hp1
HG02970.hp1
others(4): Show 
HG02622.hp2
HG02717.hp1
HG02970.hp1
HG03471.hp2
NA18963.hp2
NA18998.hp2
NA19057.hp1
 intron_variant MODIFIER c.495-824_495-823del
others(2): Show 
c.495-824_495-823delCA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 INFO_REALIGN_3_PRIME chr2 62830153
chr2:62830153 GACAC
GACAC
 G
G
 3 a0001c0001t0001g0077
a0001c0001t0001g0181
a0001c0008t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0181
a0001c0008t0001g0076
 3 HG03195.hp1
HG03453.hp2
NA19043.hp1
HG03195.hp1
HG03453.hp2
NA19043.hp1
 intron_variant MODIFIER c.495-826_495-823del
others(4): Show 
c.495-826_495-823delCACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 INFO_REALIGN_3_PRIME chr2 62830153
chr2:62830153 GACACACA
others(3): Show 
GACACACACAC
 G
G
 25 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
others(22): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0002g0091
 25 HG00099.hp2
HG00642.hp2
HG01074.hp1
others(22): Show 
HG00099.hp2
HG00642.hp2
HG01074.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01256.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG02015.hp1
HG02258.hp1
HG02293.hp2
HG02965.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03704.hp1
NA18952.hp2
NA18955.hp2
NA18984.hp2
NA18999.hp1
NA19010.hp2
NA19068.hp2
NA19079.hp2
 intron_variant MODIFIER c.495-832_495-823del
others(10): Show 
c.495-832_495-823delCACACACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 INFO_REALIGN_3_PRIME chr2 62830153
chr2:62830153 GACACACA
others(9): Show 
GACACACACACACACAC
 G
G
 2 a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0062
a0001c0001t0001g0065
 2 HG03139.hp1
NA19240.hp2
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.495-838_495-823del
others(16): Show 
c.495-838_495-823delCACACACACACACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 INFO_REALIGN_3_PRIME chr2 62830153
chr2:62830153 GACACACA
others(11): Show 
GACACACACACACACACAC
 G
G
 11 a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
others(8): Show 
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0139
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0185
a0001c0001t0005g0066
 11 HG01175.hp2
HG01257.hp1
HG02040.hp2
others(8): Show 
HG01175.hp2
HG01257.hp1
HG02040.hp2
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02886.hp2
HG03017.hp2
HG03098.hp2
HG03540.hp1
NA19010.hp1
 intron_variant MODIFIER c.495-840_495-823del
others(18): Show 
c.495-840_495-823delCACACACACACACACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 INFO_REALIGN_3_PRIME chr2 62830153
chr2:62830153 GACACACA
others(15): Show 
GACACACACACACACACACACAC
 G
G
 2 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0116
a0001c0001t0001g0117
 2 HG02818.hp1
HG03139.hp2
HG02818.hp1
HG03139.hp2
 intron_variant MODIFIER c.495-844_495-823del
others(22): Show 
c.495-844_495-823delCACACACACACACACACACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 INFO_REALIGN_3_PRIME chr2 62830153
chr2:62830159 C
C
 T
T
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.495-860C>T
c.495-860C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62830159
chr2:62830161 C
C
 G
G
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.495-858C>G
c.495-858C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62830161
chr2:62830161 C
C
 T
T
 7 a0001c0001t0001g0029
a0001c0001t0001g0032
a0001c0001t0001g0033
others(4): Show 
a0001c0001t0001g0029
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0098
 7 HG00280.hp2
HG00738.hp2
HG01981.hp2
others(4): Show 
HG00280.hp2
HG00738.hp2
HG01981.hp2
HG03017.hp1
HG03239.hp1
HG03831.hp1
HG03927.hp2
 intron_variant MODIFIER c.495-858C>T
c.495-858C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62830161
chr2:62830163 C
C
 G
G
 7 a0001c0001t0001g0029
a0001c0001t0001g0032
a0001c0001t0001g0033
others(4): Show 
a0001c0001t0001g0029
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0098
 7 HG00280.hp2
HG00738.hp2
HG01981.hp2
others(4): Show 
HG00280.hp2
HG00738.hp2
HG01981.hp2
HG03017.hp1
HG03239.hp1
HG03831.hp1
HG03927.hp2
 intron_variant MODIFIER c.495-856C>G
c.495-856C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62830163
chr2:62830163 C
C
 T
T
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.495-856C>T
c.495-856C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62830163
chr2:62830165 C
C
 G
G
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.495-854C>G
c.495-854C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62830165
chr2:62830195 C
C
 CACACAT
CACACAT
 3 a0001c0001t0001g0007
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0007
a0001c0001t0001g0069
a0001c0001t0001g0070
 3 HG01361.hp1
HG01515.hp2
HG02300.hp2
HG01361.hp1
HG01515.hp2
HG02300.hp2
 intron_variant MODIFIER c.495-823_495-822ins
others(6): Show 
c.495-823_495-822insCACATA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 INFO_REALIGN_3_PRIME chr2 62830195
chr2:62830195 C
C
 CACAT
CACAT
 3 a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0073
 3 HG00642.hp1
HG02698.hp2
homoSapiens_chm13v2.hp1
HG00642.hp1
HG02698.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.495-823_495-822ins
others(4): Show 
c.495-823_495-822insCATA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 INFO_REALIGN_3_PRIME chr2 62830195
chr2:62830195 C
C
 T
T
 9 a0001c0001t0001g0044
a0001c0001t0002g0101
a0001c0003t0001g0191
others(6): Show 
a0001c0001t0001g0044
a0001c0001t0002g0101
a0001c0003t0001g0191
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0195
a0004c0009t0001g0197
 9 HG00558.hp1
HG01243.hp2
HG01361.hp2
others(6): Show 
HG00558.hp1
HG01243.hp2
HG01361.hp2
HG01496.hp2
HG02886.hp1
HG03471.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp2
 intron_variant MODIFIER c.495-824C>T
c.495-824C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62830195
chr2:62830197 T
T
 C
C
 10 a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
others(7): Show 
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0047
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0192
a0001c0001t0002g0102
a0001c0001t0002g0113
 10 HG01884.hp2
HG02155.hp2
HG02300.hp1
others(7): Show 
HG01884.hp2
HG02155.hp2
HG02300.hp1
HG02559.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG03130.hp2
NA18952.hp1
NA19012.hp1
 intron_variant MODIFIER c.495-822T>C
c.495-822T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62830197
chr2:62830203 T
T
 C
C
 11 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(8): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0002g0101
a0001c0003t0001g0191
a0001c0008t0001g0076
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0195
 11 HG00558.hp1
HG01361.hp2
HG01496.hp2
others(8): Show 
HG00558.hp1
HG01361.hp2
HG01496.hp2
HG02258.hp2
HG02717.hp1
HG02886.hp1
HG03195.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.495-816T>C
c.495-816T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62830203
chr2:62830207 C
C
 T
T
 11 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(8): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0002g0101
a0001c0003t0001g0191
a0001c0008t0001g0076
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0195
 11 HG00558.hp1
HG01361.hp2
HG01496.hp2
others(8): Show 
HG00558.hp1
HG01361.hp2
HG01496.hp2
HG02258.hp2
HG02717.hp1
HG02886.hp1
HG03195.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.495-812C>T
c.495-812C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62830207
chr2:62830211 T
T
 C
C
 11 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(8): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0002g0101
a0001c0003t0001g0191
a0001c0008t0001g0076
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0195
 11 HG00558.hp1
HG01361.hp2
HG01496.hp2
others(8): Show 
HG00558.hp1
HG01361.hp2
HG01496.hp2
HG02258.hp2
HG02717.hp1
HG02886.hp1
HG03195.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.495-808T>C
c.495-808T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62830211
chr2:62830211 T
T
 TAC
TAC
 121 a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0022
others(118): Show 
a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0125
a0002c0002t0001g0131
a0004c0009t0001g0197
 121 HG00099.hp2
HG00280.hp2
HG00438.hp1
others(118): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp2
HG02602.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp2
HG04228.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18984.hp2
NA18989.hp2
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.495-796_495-795dup
others(2): Show 
c.495-796_495-795dupCA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 INFO_REALIGN_3_PRIME chr2 62830211
chr2:62830280 C
C
 T
T
 2 a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0119
a0001c0001t0001g0120
 2 HG02922.hp1
HG02970.hp2
HG02922.hp1
HG02970.hp2
 intron_variant MODIFIER c.495-739C>T
c.495-739C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62830280
chr2:62830284 T
T
 C
C
 1 a0001c0003t0001g0187
a0001c0003t0001g0187
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.495-735T>C
c.495-735T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62830284
chr2:62830344 T
T
 G
G
 35 a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
others(32): Show 
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0007t0002g0097
 35 HG00544.hp2
HG00558.hp1
HG00639.hp2
others(32): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG03704.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18998.hp1
NA19012.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20805.hp2
 intron_variant MODIFIER c.495-675T>G
c.495-675T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62830344
chr2:62830428 C
C
 T
T
 10 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(7): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
a0001c0001t0005g0066
 10 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(7): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02818.hp1
HG02886.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.495-591C>T
c.495-591C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62830428
chr2:62830503 T
T
 C
C
 7 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(4): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
 7 HG00642.hp1
HG01261.hp1
HG01361.hp1
others(4): Show 
HG00642.hp1
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.495-516T>C
c.495-516T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62830503
chr2:62830768 C
C
 T
T
 1 a0001c0001t0001g0173
a0001c0001t0001g0173
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.495-251C>T
c.495-251C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 6/22 chr2 62830768
chr2:62831514 C
C
 T
T
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.634+356C>T
c.634+356C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62831514
chr2:62831757 G
G
 T
T
 1 a0001c0001t0001g0078
a0001c0001t0001g0078
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.634+599G>T
c.634+599G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62831757
chr2:62832014 C
C
 T
T
 2 a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0119
a0001c0001t0001g0120
 2 HG02922.hp1
HG02970.hp2
HG02922.hp1
HG02970.hp2
 intron_variant MODIFIER c.634+856C>T
c.634+856C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62832014
chr2:62832438 C
C
 CT
CT
 48 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(45): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0098
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0192
a0001c0001t0002g0091
a0001c0001t0002g0112
a0002c0002t0001g0004
 48 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(45): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00621.hp2
HG00642.hp2
HG00738.hp2
HG01074.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01256.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp2
HG02015.hp1
HG02145.hp1
HG02165.hp1
HG02258.hp1
HG02293.hp2
HG02965.hp1
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp2
NA18962.hp1
NA18972.hp1
NA18984.hp2
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19057.hp2
NA19068.hp2
NA19079.hp2
NA20752.hp1
 intron_variant MODIFIER c.634+1299dupT
c.634+1299dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 INFO_REALIGN_3_PRIME chr2 62832438
chr2:62832792 G
G
 A
A
 120 a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0022
others(117): Show 
a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0004c0009t0001g0197
 120 HG00099.hp2
HG00280.hp2
HG00438.hp1
others(117): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01123.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02559.hp2
HG02602.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp2
HG04228.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.634+1634G>A
c.634+1634G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62832792
chr2:62832800 C
C
 G
G
 1 a0002c0002t0001g0131
a0002c0002t0001g0131
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.634+1642C>G
c.634+1642C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62832800
chr2:62832944 C
C
 T
T
 7 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(4): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
 7 HG00642.hp1
HG01261.hp1
HG01361.hp1
others(4): Show 
HG00642.hp1
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.634+1786C>T
c.634+1786C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62832944
chr2:62833528 G
G
 A
A
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.634+2370G>A
c.634+2370G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62833528
chr2:62833843 C
C
 G
G
 2 a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0001g0118
a0001c0004t0001g0121
 2 HG01167.hp2
HG02809.hp2
HG01167.hp2
HG02809.hp2
 intron_variant MODIFIER c.634+2685C>G
c.634+2685C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62833843
chr2:62834395 A
A
 G
G
 3 a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
 3 NA18952.hp2
NA18955.hp2
NA18984.hp2
NA18952.hp2
NA18955.hp2
NA18984.hp2
 intron_variant MODIFIER c.634+3237A>G
c.634+3237A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62834395
chr2:62834774 A
A
 G
G
 2 a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0062
a0001c0001t0001g0065
 2 HG03139.hp1
NA19240.hp2
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.634+3616A>G
c.634+3616A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62834774
chr2:62834826 C
C
 T
T
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.634+3668C>T
c.634+3668C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62834826
chr2:62835316 T
T
 C
C
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.634+4158T>C
c.634+4158T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62835316
chr2:62835402 A
A
 G
G
 1 a0001c0001t0001g0036
a0001c0001t0001g0036
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.634+4244A>G
c.634+4244A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62835402
chr2:62835409 C
C
 A
A
 3 a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0012
 3 NA18954.hp1
NA18995.hp1
NA19077.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.634+4251C>A
c.634+4251C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62835409
chr2:62835536 A
A
 C
C
 97 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(94): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
 97 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(94): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02559.hp2
HG02698.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18984.hp2
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.634+4378A>C
c.634+4378A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62835536
chr2:62835542 G
G
 A
A
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.634+4384G>A
c.634+4384G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62835542
chr2:62835685 G
G
 A
A
 1 a0001c0001t0001g0030
a0001c0001t0001g0030
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.634+4527G>A
c.634+4527G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62835685
chr2:62835731 G
G
 A
A
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.634+4573G>A
c.634+4573G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62835731
chr2:62835758 A
A
 G
G
 4 a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
others(1): Show 
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
 4 HG01884.hp2
HG02818.hp2
HG02922.hp2
others(1): Show 
HG01884.hp2
HG02818.hp2
HG02922.hp2
HG03130.hp2
 intron_variant MODIFIER c.634+4600A>G
c.634+4600A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62835758
chr2:62835830 C
C
 T
T
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.634+4672C>T
c.634+4672C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62835830
chr2:62835864 G
G
 A
A
 1 a0001c0001t0001g0030
a0001c0001t0001g0030
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.634+4706G>A
c.634+4706G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62835864
chr2:62835880 G
G
 C
C
 1 a0001c0008t0001g0076
a0001c0008t0001g0076
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.634+4722G>C
c.634+4722G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62835880
chr2:62835921 G
G
 A
A
 1 a0002c0002t0001g0014
a0002c0002t0001g0014
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.634+4763G>A
c.634+4763G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62835921
chr2:62835958 G
G
 A
A
 155 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(152): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0168
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 155 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(152): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04228.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18972.hp2
NA18984.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.634+4800G>A
c.634+4800G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62835958
chr2:62835962 C
C
 G
G
 5 a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0073
others(2): Show 
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
a0004c0009t0001g0197
 5 HG00642.hp1
HG01243.hp2
HG01261.hp1
others(2): Show 
HG00642.hp1
HG01243.hp2
HG01261.hp1
HG02698.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.634+4804C>G
c.634+4804C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62835962
chr2:62835962 C
C
 T
T
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.634+4804C>T
c.634+4804C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62835962
chr2:62836222 G
G
 A
A
 1 a0001c0001t0001g0063
a0001c0001t0001g0063
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.634+5064G>A
c.634+5064G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62836222
chr2:62836287 T
T
 C
C
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.634+5129T>C
c.634+5129T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62836287
chr2:62836435 C
C
 T
T
 1 a0001c0001t0002g0099
a0001c0001t0002g0099
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.634+5277C>T
c.634+5277C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62836435
chr2:62836455 G
G
 A
A
 1 a0002c0002t0001g0004
a0002c0002t0001g0004
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.634+5297G>A
c.634+5297G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62836455
chr2:62836474 G
G
 A
A
 197 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(194): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 197 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(194): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18972.hp1
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.634+5316G>A
c.634+5316G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62836474
chr2:62836547 C
C
 T
T
 8 a0001c0001t0001g0006
a0001c0001t0001g0127
a0001c0001t0001g0156
others(5): Show 
a0001c0001t0001g0006
a0001c0001t0001g0127
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0173
a0001c0001t0001g0196
a0001c0001t0002g0176
a0001c0010t0001g0155
 8 HG00280.hp1
HG02155.hp1
HG03704.hp2
others(5): Show 
HG00280.hp1
HG02155.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
NA18612.hp1
NA18951.hp2
NA18962.hp2
 intron_variant MODIFIER c.634+5389C>T
c.634+5389C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62836547
chr2:62836612 A
A
 G
G
 2 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0116
a0001c0001t0001g0117
 2 HG02818.hp1
HG03139.hp2
HG02818.hp1
HG03139.hp2
 intron_variant MODIFIER c.634+5454A>G
c.634+5454A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62836612
chr2:62836674 G
G
 A
A
 1 a0001c0001t0001g0123
a0001c0001t0001g0123
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.634+5516G>A
c.634+5516G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62836674
chr2:62836714 C
C
 G
G
 1 a0001c0001t0001g0173
a0001c0001t0001g0173
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.634+5556C>G
c.634+5556C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62836714
chr2:62836732 G
G
 A
A
 13 a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
others(10): Show 
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
 13 HG00438.hp1
HG01123.hp1
HG01361.hp2
others(10): Show 
HG00438.hp1
HG01123.hp1
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.634+5574G>A
c.634+5574G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62836732
chr2:62836754 A
A
 G
G
 5 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0032
others(2): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0041
 5 HG00280.hp2
HG00738.hp2
HG01074.hp1
others(2): Show 
HG00280.hp2
HG00738.hp2
HG01074.hp1
HG02258.hp1
HG03017.hp1
 intron_variant MODIFIER c.634+5596A>G
c.634+5596A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62836754
chr2:62836989 C
C
 T
T
 5 a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0073
others(2): Show 
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
a0004c0009t0001g0197
 5 HG00642.hp1
HG01243.hp2
HG01261.hp1
others(2): Show 
HG00642.hp1
HG01243.hp2
HG01261.hp1
HG02698.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.634+5831C>T
c.634+5831C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62836989
chr2:62837007 C
C
 A
A
 1 a0001c0001t0002g0100
a0001c0001t0002g0100
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.634+5849C>A
c.634+5849C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62837007
chr2:62837008 G
G
 A
A
 1 a0001c0001t0001g0150
a0001c0001t0001g0150
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.634+5850G>A
c.634+5850G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62837008
chr2:62837143 G
G
 A
A
 1 a0001c0001t0001g0127
a0001c0001t0001g0127
 1 NA18951.hp2
NA18951.hp2
 intron_variant MODIFIER c.634+5985G>A
c.634+5985G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62837143
chr2:62837336 G
G
 A
A
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.634+6178G>A
c.634+6178G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62837336
chr2:62837340 T
T
 C
C
 1 a0001c0001t0001g0132
a0001c0001t0001g0132
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.634+6182T>C
c.634+6182T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62837340
chr2:62837436 A
A
 G
G
 1 a0001c0001t0001g0127
a0001c0001t0001g0127
 1 NA18951.hp2
NA18951.hp2
 intron_variant MODIFIER c.634+6278A>G
c.634+6278A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62837436
chr2:62837445 C
C
 A
A
 1 a0001c0001t0001g0193
a0001c0001t0001g0193
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.634+6287C>A
c.634+6287C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62837445
chr2:62837503 T
T
 A
A
 4 a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0067
others(1): Show 
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0067
a0001c0001t0005g0066
 4 HG02109.hp2
HG02280.hp1
HG03098.hp2
others(1): Show 
HG02109.hp2
HG02280.hp1
HG03098.hp2
HG03540.hp1
 intron_variant MODIFIER c.634+6345T>A
c.634+6345T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62837503
chr2:62837602 G
G
 A
A
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.634+6444G>A
c.634+6444G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62837602
chr2:62837692 A
A
 G
G
 1 a0001c0001t0001g0182
a0001c0001t0001g0182
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.634+6534A>G
c.634+6534A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62837692
chr2:62837818 G
G
 A
A
 2 a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0119
a0001c0001t0001g0120
 2 HG02922.hp1
HG02970.hp2
HG02922.hp1
HG02970.hp2
 intron_variant MODIFIER c.634+6660G>A
c.634+6660G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62837818
chr2:62838195 G
G
 A
A
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.634+7037G>A
c.634+7037G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62838195
chr2:62838406 C
C
 T
T
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.634+7248C>T
c.634+7248C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62838406
chr2:62838540 G
G
 A
A
 1 a0001c0001t0001g0158
a0001c0001t0001g0158
 1 NA18992.hp1
NA18992.hp1
 intron_variant MODIFIER c.634+7382G>A
c.634+7382G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62838540
chr2:62838579 T
T
 C
C
 1 a0002c0002t0001g0195
a0002c0002t0001g0195
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.634+7421T>C
c.634+7421T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62838579
chr2:62838720 C
C
 T
T
 1 a0001c0001t0002g0088
a0001c0001t0002g0088
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.634+7562C>T
c.634+7562C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62838720
chr2:62838780 G
G
 C
C
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.634+7622G>C
c.634+7622G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62838780
chr2:62838922 A
A
 G
G
 2 a0001c0003t0001g0189
a0004c0009t0001g0197
a0001c0003t0001g0189
a0004c0009t0001g0197
 2 HG01243.hp2
HG02717.hp2
HG01243.hp2
HG02717.hp2
 intron_variant MODIFIER c.634+7764A>G
c.634+7764A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62838922
chr2:62839051 T
T
 G
G
 1 a0001c0001t0001g0026
a0001c0001t0001g0026
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.634+7893T>G
c.634+7893T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62839051
chr2:62839109 C
C
 T
T
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.634+7951C>T
c.634+7951C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62839109
chr2:62839184 A
A
 C
C
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.634+8026A>C
c.634+8026A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62839184
chr2:62839190 C
C
 T
T
 1 a0001c0001t0001g0042
a0001c0001t0001g0042
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.634+8032C>T
c.634+8032C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62839190
chr2:62839204 T
T
 C
C
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.634+8046T>C
c.634+8046T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62839204
chr2:62839208 A
A
 G
G
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.634+8050A>G
c.634+8050A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62839208
chr2:62839210 C
C
 G
G
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.634+8052C>G
c.634+8052C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62839210
chr2:62839217 A
A
 G
G
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.634+8059A>G
c.634+8059A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62839217
chr2:62839280 A
A
 G
G
 1 a0001c0001t0002g0092
a0001c0001t0002g0092
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.634+8122A>G
c.634+8122A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62839280
chr2:62839351 A
A
 G
G
 1 a0001c0001t0001g0137
a0001c0001t0001g0137
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.634+8193A>G
c.634+8193A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62839351
chr2:62839448 C
C
 G
G
 1 a0001c0001t0001g0159
a0001c0001t0001g0159
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.634+8290C>G
c.634+8290C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62839448
chr2:62839459 C
C
 T
T
 2 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0016
a0001c0001t0001g0017
 2 HG03195.hp2
NA19043.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.634+8301C>T
c.634+8301C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62839459
chr2:62839654 C
C
 CA
CA
 10 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(7): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
a0001c0001t0005g0066
 10 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(7): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02818.hp1
HG02886.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.634+8500dupA
c.634+8500dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 INFO_REALIGN_3_PRIME chr2 62839654
chr2:62840016 G
G
 A
A
 3 a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
 3 HG01257.hp2
HG01258.hp2
HG02293.hp1
HG01257.hp2
HG01258.hp2
HG02293.hp1
 intron_variant MODIFIER c.634+8858G>A
c.634+8858G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62840016
chr2:62840183 C
C
 T
T
 1 a0001c0001t0004g0089
a0001c0001t0004g0089
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.634+9025C>T
c.634+9025C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62840183
chr2:62840262 G
G
 T
T
 2 a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0004t0003g0114
a0001c0004t0003g0115
 2 HG02280.hp2
NA20300.hp1
HG02280.hp2
NA20300.hp1
 intron_variant MODIFIER c.634+9104G>T
c.634+9104G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62840262
chr2:62840355 C
C
 T
T
 104 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(101): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 104 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(101): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18984.hp2
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.634+9197C>T
c.634+9197C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62840355
chr2:62840357 G
G
 T
T
 104 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(101): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 104 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(101): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18984.hp2
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.634+9199G>T
c.634+9199G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62840357
chr2:62840362 A
A
 G
G
 104 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(101): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 104 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(101): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18984.hp2
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.634+9204A>G
c.634+9204A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62840362
chr2:62840364 A
A
 T
T
 104 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(101): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 104 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(101): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18984.hp2
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.634+9206A>T
c.634+9206A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62840364
chr2:62840428 G
G
 A
A
 1 a0001c0001t0001g0123
a0001c0001t0001g0123
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.634+9270G>A
c.634+9270G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62840428
chr2:62840468 C
C
 G
G
 1 a0001c0001t0002g0093
a0001c0001t0002g0093
 1 NA19012.hp2
NA19012.hp2
 intron_variant MODIFIER c.634+9310C>G
c.634+9310C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62840468
chr2:62840680 G
G
 C
C
 3 a0001c0001t0001g0007
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0007
a0001c0001t0001g0069
a0001c0001t0001g0070
 3 HG01361.hp1
HG01515.hp2
HG02300.hp2
HG01361.hp1
HG01515.hp2
HG02300.hp2
 intron_variant MODIFIER c.634+9522G>C
c.634+9522G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62840680
chr2:62840787 G
G
 A
A
 2 a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0171
a0001c0001t0001g0172
 2 HG01346.hp1
NA20752.hp2
HG01346.hp1
NA20752.hp2
 intron_variant MODIFIER c.634+9629G>A
c.634+9629G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62840787
chr2:62840843 T
T
 G
G
 2 a0001c0001t0001g0166
a0004c0009t0001g0197
a0001c0001t0001g0166
a0004c0009t0001g0197
 2 HG00099.hp1
HG01243.hp2
HG00099.hp1
HG01243.hp2
 intron_variant MODIFIER c.634+9685T>G
c.634+9685T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62840843
chr2:62840871 A
A
 G
G
 7 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(4): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0005g0066
 7 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(4): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.634+9713A>G
c.634+9713A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62840871
chr2:62840899 A
A
 C
C
 1 a0001c0001t0001g0057
a0001c0001t0001g0057
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.634+9741A>C
c.634+9741A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62840899
chr2:62840947 C
C
 G
G
 2 a0001c0001t0001g0057
a0001c0001t0001g0183
a0001c0001t0001g0057
a0001c0001t0001g0183
 2 HG02109.hp1
HG03453.hp1
HG02109.hp1
HG03453.hp1
 intron_variant MODIFIER c.634+9789C>G
c.634+9789C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62840947
chr2:62841053 C
C
 T
T
 1 a0001c0003t0001g0186
a0001c0003t0001g0186
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.634+9895C>T
c.634+9895C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62841053
chr2:62841069 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.634+9911A>G
c.634+9911A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62841069
chr2:62841264 C
C
 G
G
 1 a0001c0001t0001g0144
a0001c0001t0001g0144
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.634+10106C>G
c.634+10106C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62841264
chr2:62841266 C
C
 G
G
 1 a0001c0001t0002g0176
a0001c0001t0002g0176
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.634+10108C>G
c.634+10108C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62841266
chr2:62841271 ATAGG
ATAGG
 A
A
 2 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0116
a0001c0001t0001g0117
 2 HG02818.hp1
HG03139.hp2
HG02818.hp1
HG03139.hp2
 intron_variant MODIFIER c.634+10115_634+1011
others(8): Show 
c.634+10115_634+10118delAGGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 INFO_REALIGN_3_PRIME chr2 62841271
chr2:62841289 A
A
 C
C
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.634+10131A>C
c.634+10131A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62841289
chr2:62841352 A
A
 G
G
 1 a0001c0001t0002g0087
a0001c0001t0002g0087
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.634+10194A>G
c.634+10194A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62841352
chr2:62841354 G
G
 T
T
 37 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(34): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0192
 37 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(34): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00621.hp2
HG00738.hp2
HG01074.hp1
HG01175.hp1
HG01256.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp2
HG02165.hp1
HG02258.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18952.hp1
NA18962.hp1
NA18972.hp1
NA18995.hp2
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19057.hp2
NA20752.hp1
 intron_variant MODIFIER c.634+10196G>T
c.634+10196G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62841354
chr2:62841463 A
A
 T
T
 1 a0002c0002t0001g0004
a0002c0002t0001g0004
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.634+10305A>T
c.634+10305A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62841463
chr2:62841465 A
A
 C
C
 2 a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0062
a0001c0001t0001g0065
 2 HG03139.hp1
NA19240.hp2
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.634+10307A>C
c.634+10307A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62841465
chr2:62841764 C
C
 T
T
 2 a0001c0001t0002g0094
a0001c0001t0002g0099
a0001c0001t0002g0094
a0001c0001t0002g0099
 2 HG01346.hp2
NA20805.hp2
HG01346.hp2
NA20805.hp2
 intron_variant MODIFIER c.634+10606C>T
c.634+10606C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62841764
chr2:62841977 T
T
 G
G
 118 a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0022
others(115): Show 
a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0004c0009t0001g0197
 118 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(115): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18906.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18984.hp2
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.634+10819T>G
c.634+10819T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62841977
chr2:62842094 C
C
 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.634+10946_634+1094
others(17): Show 
c.634+10946_634+10947insTTTTTTTTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 INFO_REALIGN_3_PRIME chr2 62842094
chr2:62842334 G
G
 A
A
 1 a0001c0001t0001g0126
a0001c0001t0001g0126
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.634+11176G>A
c.634+11176G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62842334
chr2:62842511 T
T
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.634+11353T>G
c.634+11353T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62842511
chr2:62842536 G
G
 A
A
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.634+11378G>A
c.634+11378G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62842536
chr2:62842640 A
A
 G
G
 2 a0001c0001t0001g0057
a0001c0001t0001g0183
a0001c0001t0001g0057
a0001c0001t0001g0183
 2 HG02109.hp1
HG03453.hp1
HG02109.hp1
HG03453.hp1
 intron_variant MODIFIER c.634+11482A>G
c.634+11482A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62842640
chr2:62842753 G
G
 T
T
 1 a0001c0001t0002g0081
a0001c0001t0002g0081
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.634+11595G>T
c.634+11595G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62842753
chr2:62843395 A
A
 G
G
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.634+12237A>G
c.634+12237A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62843395
chr2:62843410 G
G
 C
C
 7 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(4): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
 7 HG00642.hp1
HG01261.hp1
HG01361.hp1
others(4): Show 
HG00642.hp1
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.634+12252G>C
c.634+12252G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62843410
chr2:62843711 C
C
 T
T
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.634+12553C>T
c.634+12553C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62843711
chr2:62843733 G
G
 A
A
 2 a0001c0001t0001g0057
a0001c0001t0001g0183
a0001c0001t0001g0057
a0001c0001t0001g0183
 2 HG02109.hp1
HG03453.hp1
HG02109.hp1
HG03453.hp1
 intron_variant MODIFIER c.634+12575G>A
c.634+12575G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62843733
chr2:62844127 A
A
 G
G
 1 a0001c0001t0002g0103
a0001c0001t0002g0103
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.634+12969A>G
c.634+12969A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62844127
chr2:62844248 G
G
 A
A
 1 a0001c0001t0001g0132
a0001c0001t0001g0132
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.634+13090G>A
c.634+13090G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62844248
chr2:62844312 A
A
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.634+13154A>T
c.634+13154A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62844312
chr2:62844656 G
G
 T
T
 1 a0001c0001t0001g0132
a0001c0001t0001g0132
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.634+13498G>T
c.634+13498G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62844656
chr2:62844935 A
A
 G
G
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.634+13777A>G
c.634+13777A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62844935
chr2:62845017 T
T
 C
C
 197 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(194): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 197 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(194): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18972.hp1
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.634+13859T>C
c.634+13859T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62845017
chr2:62845042 A
A
 G
G
 1 a0001c0001t0002g0081
a0001c0001t0002g0081
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.634+13884A>G
c.634+13884A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62845042
chr2:62845046 A
A
 G
G
 5 a0001c0001t0001g0024
a0001c0001t0001g0030
a0001c0001t0001g0035
others(2): Show 
a0001c0001t0001g0024
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
 5 HG01175.hp1
HG01256.hp2
HG01884.hp1
others(2): Show 
HG01175.hp1
HG01256.hp2
HG01884.hp1
HG02965.hp1
HG03490.hp1
 intron_variant MODIFIER c.634+13888A>G
c.634+13888A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62845046
chr2:62845073 A
A
 G
G
 166 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(163): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0168
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 166 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(163): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04228.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.634+13915A>G
c.634+13915A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62845073
chr2:62845268 C
C
 G
G
 7 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(4): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
 7 HG00642.hp1
HG01261.hp1
HG01361.hp1
others(4): Show 
HG00642.hp1
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.635-13901C>G
c.635-13901C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62845268
chr2:62845295 G
G
 C
C
 13 a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
others(10): Show 
a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
 13 HG00438.hp1
HG01074.hp2
HG01123.hp1
others(10): Show 
HG00438.hp1
HG01074.hp2
HG01123.hp1
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.635-13874G>C
c.635-13874G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62845295
chr2:62845371 G
G
 A
A
 1 a0001c0001t0001g0034
a0001c0001t0001g0034
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.635-13798G>A
c.635-13798G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62845371
chr2:62845547 C
C
 G
G
 1 a0002c0002t0001g0195
a0002c0002t0001g0195
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.635-13622C>G
c.635-13622C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62845547
chr2:62845696 TA
TA
 T
T
 9 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0127
others(6): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0127
a0001c0001t0001g0166
a0001c0001t0002g0086
a0001c0001t0002g0090
a0001c0004t0001g0121
a0002c0002t0001g0012
a0003c0005t0001g0164
 9 HG00099.hp1
HG00639.hp2
HG01070.hp2
others(6): Show 
HG00099.hp1
HG00639.hp2
HG01070.hp2
HG01256.hp1
HG02040.hp1
HG02809.hp2
HG02965.hp1
NA18951.hp2
NA19077.hp2
 intron_variant MODIFIER c.635-13457delA
c.635-13457delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 INFO_REALIGN_3_PRIME chr2 62845696
chr2:62846059 G
G
 A
A
 92 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(89): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
a0004c0009t0001g0197
 92 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(89): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18972.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.635-13110G>A
c.635-13110G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62846059
chr2:62846211 C
C
 G
G
 5 a0001c0001t0001g0139
a0001c0001t0001g0142
a0001c0001t0001g0144
others(2): Show 
a0001c0001t0001g0139
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
 5 HG01175.hp2
HG01257.hp1
HG02040.hp2
others(2): Show 
HG01175.hp2
HG01257.hp1
HG02040.hp2
HG03017.hp2
NA19010.hp1
 intron_variant MODIFIER c.635-12958C>G
c.635-12958C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62846211
chr2:62846979 A
A
 G
G
 6 a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
others(3): Show 
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
 6 HG02717.hp2
HG03130.hp1
HG03540.hp2
others(3): Show 
HG02717.hp2
HG03130.hp1
HG03540.hp2
NA18906.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.635-12190A>G
c.635-12190A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62846979
chr2:62847128 A
A
 T
T
 4 a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0067
others(1): Show 
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0067
a0001c0001t0005g0066
 4 HG02109.hp2
HG02280.hp1
HG03098.hp2
others(1): Show 
HG02109.hp2
HG02280.hp1
HG03098.hp2
HG03540.hp1
 intron_variant MODIFIER c.635-12041A>T
c.635-12041A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62847128
chr2:62847266 A
A
 G
G
 2 a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0119
a0001c0001t0001g0120
 2 HG02922.hp1
HG02970.hp2
HG02922.hp1
HG02970.hp2
 intron_variant MODIFIER c.635-11903A>G
c.635-11903A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62847266
chr2:62847383 G
G
 C
C
 1 a0001c0001t0001g0133
a0001c0001t0001g0133
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.635-11786G>C
c.635-11786G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62847383
chr2:62847392 A
A
 T
T
 1 a0001c0001t0002g0103
a0001c0001t0002g0103
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.635-11777A>T
c.635-11777A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62847392
chr2:62847690 A
A
 G
G
 1 a0001c0003t0001g0186
a0001c0003t0001g0186
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.635-11479A>G
c.635-11479A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62847690
chr2:62847701 G
G
 T
T
 1 a0001c0001t0001g0169
a0001c0001t0001g0169
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.635-11468G>T
c.635-11468G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62847701
chr2:62847740 A
A
 G
G
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 NA18955.hp2
NA18955.hp2
 intron_variant MODIFIER c.635-11429A>G
c.635-11429A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62847740
chr2:62847851 A
A
 T
T
 104 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(101): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
 104 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(101): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18955.hp2
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18984.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19068.hp2
NA19077.hp2
NA19079.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.635-11318A>T
c.635-11318A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62847851
chr2:62847898 C
C
 A
A
 110 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(107): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 110 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(107): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01175.hp2
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19077.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.635-11271C>A
c.635-11271C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62847898
chr2:62847989 C
C
 G
G
 1 a0001c0001t0002g0103
a0001c0001t0002g0103
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.635-11180C>G
c.635-11180C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62847989
chr2:62848039 G
G
 A
A
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.635-11130G>A
c.635-11130G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62848039
chr2:62848341 C
C
 G
G
 1 a0001c0001t0002g0176
a0001c0001t0002g0176
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.635-10828C>G
c.635-10828C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62848341
chr2:62848463 C
C
 A
A
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.635-10706C>A
c.635-10706C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62848463
chr2:62848867 A
A
 G
G
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.635-10302A>G
c.635-10302A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62848867
chr2:62849034 C
C
 G
G
 1 a0001c0001t0001g0173
a0001c0001t0001g0173
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.635-10135C>G
c.635-10135C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62849034
chr2:62849077 T
T
 A
A
 1 a0001c0004t0001g0121
a0001c0004t0001g0121
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.635-10092T>A
c.635-10092T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62849077
chr2:62849464 C
C
 A
A
 5 a0001c0001t0001g0024
a0001c0001t0001g0030
a0001c0001t0001g0035
others(2): Show 
a0001c0001t0001g0024
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
 5 HG01175.hp1
HG01256.hp2
HG01884.hp1
others(2): Show 
HG01175.hp1
HG01256.hp2
HG01884.hp1
HG02965.hp1
HG03490.hp1
 intron_variant MODIFIER c.635-9705C>A
c.635-9705C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62849464
chr2:62849470 A
A
 G
G
 1 a0001c0001t0001g0161
a0001c0001t0001g0161
 1 NA18972.hp2
NA18972.hp2
 intron_variant MODIFIER c.635-9699A>G
c.635-9699A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62849470
chr2:62850027 G
G
 A
A
 1 a0001c0001t0001g0030
a0001c0001t0001g0030
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.635-9142G>A
c.635-9142G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62850027
chr2:62850072 C
C
 T
T
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.635-9097C>T
c.635-9097C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62850072
chr2:62850148 G
G
 A
A
 1 a0001c0001t0001g0180
a0001c0001t0001g0180
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.635-9021G>A
c.635-9021G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62850148
chr2:62850238 G
G
 A
A
 1 a0001c0001t0001g0184
a0001c0001t0001g0184
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.635-8931G>A
c.635-8931G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62850238
chr2:62850320 A
A
 G
G
 2 a0001c0001t0001g0057
a0001c0001t0001g0183
a0001c0001t0001g0057
a0001c0001t0001g0183
 2 HG02109.hp1
HG03453.hp1
HG02109.hp1
HG03453.hp1
 intron_variant MODIFIER c.635-8849A>G
c.635-8849A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62850320
chr2:62850522 C
C
 T
T
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.635-8647C>T
c.635-8647C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62850522
chr2:62850611 A
A
 G
G
 1 a0001c0001t0002g0088
a0001c0001t0002g0088
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.635-8558A>G
c.635-8558A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62850611
chr2:62850746 C
C
 T
T
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.635-8423C>T
c.635-8423C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62850746
chr2:62851354 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.635-7815A>G
c.635-7815A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62851354
chr2:62851410 T
T
 C
C
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.635-7759T>C
c.635-7759T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62851410
chr2:62851620 T
T
 A
A
 14 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(11): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
 14 HG00642.hp1
HG01261.hp1
HG01361.hp1
others(11): Show 
HG00642.hp1
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG03130.hp1
HG03540.hp2
NA18906.hp1
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.635-7549T>A
c.635-7549T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62851620
chr2:62851662 T
T
 G
G
 3 a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0006t0001g0160
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0006t0001g0160
 3 HG00738.hp1
HG01346.hp1
NA20752.hp2
HG00738.hp1
HG01346.hp1
NA20752.hp2
 intron_variant MODIFIER c.635-7507T>G
c.635-7507T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62851662
chr2:62851813 A
A
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.635-7356A>T
c.635-7356A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62851813
chr2:62851848 T
T
 C
C
 2 a0001c0001t0001g0024
a0001c0001t0001g0039
a0001c0001t0001g0024
a0001c0001t0001g0039
 2 HG01175.hp1
HG01256.hp2
HG01175.hp1
HG01256.hp2
 intron_variant MODIFIER c.635-7321T>C
c.635-7321T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62851848
chr2:62852233 T
T
 G
G
 2 a0001c0001t0002g0037
a0001c0001t0002g0095
a0001c0001t0002g0037
a0001c0001t0002g0095
 2 HG01981.hp1
NA18989.hp2
HG01981.hp1
NA18989.hp2
 intron_variant MODIFIER c.635-6936T>G
c.635-6936T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62852233
chr2:62852301 A
A
 G
G
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.635-6868A>G
c.635-6868A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62852301
chr2:62852393 C
C
 A
A
 93 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(90): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0057
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 93 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(90): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01175.hp2
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19077.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.635-6776C>A
c.635-6776C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62852393
chr2:62852507 A
A
 G
G
 1 a0001c0001t0002g0091
a0001c0001t0002g0091
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.635-6662A>G
c.635-6662A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62852507
chr2:62852640 T
T
 C
C
 92 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(89): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0057
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
 92 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(89): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19077.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.635-6529T>C
c.635-6529T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62852640
chr2:62852693 A
A
 G
G
 1 a0001c0003t0001g0188
a0001c0003t0001g0188
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.635-6476A>G
c.635-6476A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62852693
chr2:62852848 C
C
 T
T
 92 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(89): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0057
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
 92 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(89): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19077.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.635-6321C>T
c.635-6321C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62852848
chr2:62852878 A
A
 G
G
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.635-6291A>G
c.635-6291A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62852878
chr2:62852980 G
G
 A
A
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.635-6189G>A
c.635-6189G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62852980
chr2:62853149 G
G
 T
T
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.635-6020G>T
c.635-6020G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62853149
chr2:62853212 A
A
 G
G
 1 a0001c0003t0001g0186
a0001c0003t0001g0186
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.635-5957A>G
c.635-5957A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62853212
chr2:62853889 C
C
 T
T
 1 a0001c0001t0002g0176
a0001c0001t0002g0176
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.635-5280C>T
c.635-5280C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62853889
chr2:62854361 A
A
 C
C
 2 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0016
a0001c0001t0001g0017
 2 HG03195.hp2
NA19043.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.635-4808A>C
c.635-4808A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62854361
chr2:62854449 A
A
 C
C
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.635-4720A>C
c.635-4720A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62854449
chr2:62854479 C
C
 G
G
 2 a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0134
a0001c0001t0001g0135
 2 HG02970.hp1
HG03471.hp2
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.635-4690C>G
c.635-4690C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62854479
chr2:62854546 T
T
 A
A
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.635-4623T>A
c.635-4623T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62854546
chr2:62854558 T
T
 C
C
 2 a0001c0001t0001g0138
a0001c0001t0001g0148
a0001c0001t0001g0138
a0001c0001t0001g0148
 2 HG00544.hp1
NA19009.hp2
HG00544.hp1
NA19009.hp2
 intron_variant MODIFIER c.635-4611T>C
c.635-4611T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62854558
chr2:62854624 T
T
 A
A
 93 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(90): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0030
a0001c0001t0001g0057
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
 93 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(90): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19077.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.635-4545T>A
c.635-4545T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62854624
chr2:62854832 C
C
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.635-4337C>T
c.635-4337C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62854832
chr2:62854909 T
T
 G
G
 1 a0001c0001t0001g0161
a0001c0001t0001g0161
 1 NA18972.hp2
NA18972.hp2
 intron_variant MODIFIER c.635-4260T>G
c.635-4260T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62854909
chr2:62855290 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.635-3879A>G
c.635-3879A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62855290
chr2:62855330 A
A
 G
G
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.635-3839A>G
c.635-3839A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62855330
chr2:62855720 G
G
 T
T
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.635-3449G>T
c.635-3449G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62855720
chr2:62855759 C
C
 A
A
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.635-3410C>A
c.635-3410C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62855759
chr2:62855986 C
C
 T
T
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.635-3183C>T
c.635-3183C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62855986
chr2:62855996 GC
GC
 G
G
 2 a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0004t0003g0114
a0001c0004t0003g0115
 2 HG02280.hp2
NA20300.hp1
HG02280.hp2
NA20300.hp1
 intron_variant MODIFIER c.635-3172delC
c.635-3172delC
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62855996
chr2:62856371 A
A
 C
C
 2 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0002
a0001c0001t0001g0003
 2 HG01256.hp1
HG01258.hp1
HG01256.hp1
HG01258.hp1
 intron_variant MODIFIER c.635-2798A>C
c.635-2798A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62856371
chr2:62856501 C
C
 T
T
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.635-2668C>T
c.635-2668C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62856501
chr2:62856741 T
T
 G
G
 3 a0001c0001t0001g0043
a0001c0001t0001g0044
a0004c0009t0001g0197
a0001c0001t0001g0043
a0001c0001t0001g0044
a0004c0009t0001g0197
 3 HG01243.hp2
HG02809.hp1
HG03471.hp1
HG01243.hp2
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.635-2428T>G
c.635-2428T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62856741
chr2:62857533 T
T
 A
A
 1 a0001c0004t0001g0121
a0001c0004t0001g0121
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.635-1636T>A
c.635-1636T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62857533
chr2:62857547 G
G
 A
A
 92 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(89): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0057
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
 92 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(89): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19077.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.635-1622G>A
c.635-1622G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62857547
chr2:62858189 T
T
 C
C
 2 a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0092
a0001c0001t0002g0093
 2 HG00544.hp2
NA19012.hp2
HG00544.hp2
NA19012.hp2
 intron_variant MODIFIER c.635-980T>C
c.635-980T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62858189
chr2:62858713 T
T
 C
C
 93 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(90): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0057
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
 93 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(90): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19077.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.635-456T>C
c.635-456T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62858713
chr2:62858844 C
C
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.635-325C>T
c.635-325C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62858844
chr2:62859076 T
T
 A
A
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.635-93T>A
c.635-93T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62859076
chr2:62859150 C
C
 G
G
 2 a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0078
a0001c0001t0001g0079
 2 HG02258.hp2
HG02717.hp1
HG02258.hp2
HG02717.hp1
 intron_variant MODIFIER c.635-19C>G
c.635-19C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 7/22 chr2 62859150
chr2:62859388 A
A
 C
C
 1 a0002c0002t0001g0071
a0002c0002t0001g0071
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.757+97A>C
c.757+97A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62859388
chr2:62859504 C
C
 T
T
 92 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(89): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0057
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
 92 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(89): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19077.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.757+213C>T
c.757+213C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62859504
chr2:62859998 C
C
 A
A
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.757+707C>A
c.757+707C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62859998
chr2:62860243 G
G
 A
A
 150 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(147): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 150 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(147): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18972.hp2
NA18984.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.757+952G>A
c.757+952G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62860243
chr2:62860265 G
G
 A
A
 3 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
 3 HG02818.hp1
HG02886.hp2
HG03139.hp2
HG02818.hp1
HG02886.hp2
HG03139.hp2
 intron_variant MODIFIER c.757+974G>A
c.757+974G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62860265
chr2:62860466 G
G
 A
A
 12 a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
others(9): Show 
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
 12 HG00438.hp1
HG01123.hp1
HG01361.hp2
others(9): Show 
HG00438.hp1
HG01123.hp1
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.757+1175G>A
c.757+1175G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62860466
chr2:62860498 GA
GA
 G
G
 92 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(89): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0057
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
 92 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(89): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19077.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.757+1217delA
c.757+1217delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 INFO_REALIGN_3_PRIME chr2 62860498
chr2:62860643 T
T
 C
C
 64 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(61): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0057
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
 64 HG00099.hp1
HG00280.hp1
HG00544.hp1
others(61): Show 
HG00099.hp1
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02735.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18951.hp2
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.757+1352T>C
c.757+1352T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62860643
chr2:62860958 A
A
 T
T
 1 a0001c0001t0001g0028
a0001c0001t0001g0028
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.757+1667A>T
c.757+1667A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62860958
chr2:62861124 C
C
 CT
CT
 11 a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0067
others(8): Show 
a0001c0001t0001g0029
a0001c0001t0001g0039
a0001c0001t0001g0067
a0001c0001t0001g0123
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0136
a0001c0001t0001g0159
a0001c0001t0001g0184
a0001c0003t0001g0190
a0004c0009t0001g0197
 11 HG01175.hp1
HG01243.hp2
HG02145.hp2
others(8): Show 
HG01175.hp1
HG01243.hp2
HG02145.hp2
HG02559.hp1
HG02622.hp1
HG02970.hp1
HG03098.hp1
HG03239.hp1
HG03540.hp1
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.757+1856dupT
c.757+1856dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 INFO_REALIGN_3_PRIME chr2 62861124
chr2:62861124 CT
CT
 C
C
 7 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0035
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0035
a0001c0001t0001g0055
a0001c0001t0001g0074
a0001c0001t0001g0127
a0001c0001t0002g0084
 7 HG01884.hp1
HG02735.hp2
HG03195.hp2
others(4): Show 
HG01884.hp1
HG02735.hp2
HG03195.hp2
NA18951.hp2
NA18954.hp2
NA18962.hp1
NA19043.hp2
 intron_variant MODIFIER c.757+1856delT
c.757+1856delT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 INFO_REALIGN_3_PRIME chr2 62861124
chr2:62861211 C
C
 T
T
 1 a0001c0001t0001g0162
a0001c0001t0001g0162
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.757+1920C>T
c.757+1920C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62861211
chr2:62861408 G
G
 A
A
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.757+2117G>A
c.757+2117G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62861408
chr2:62861408 G
G
 T
T
 1 a0001c0001t0001g0130
a0001c0001t0001g0130
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.757+2117G>T
c.757+2117G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62861408
chr2:62861420 G
G
 A
A
 1 a0001c0001t0001g0167
a0001c0001t0001g0167
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.757+2129G>A
c.757+2129G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62861420
chr2:62861590 A
A
 G
G
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.757+2299A>G
c.757+2299A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62861590
chr2:62861721 G
G
 T
T
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.757+2430G>T
c.757+2430G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62861721
chr2:62861976 T
T
 A
A
 5 a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0013
others(2): Show 
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
 5 HG01123.hp1
HG01361.hp2
HG01496.hp2
others(2): Show 
HG01123.hp1
HG01361.hp2
HG01496.hp2
HG03490.hp2
HG03492.hp2
 intron_variant MODIFIER c.757+2685T>A
c.757+2685T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62861976
chr2:62862221 G
G
 C
C
 7 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(4): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
 7 HG00642.hp1
HG01261.hp1
HG01361.hp1
others(4): Show 
HG00642.hp1
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.758-2510G>C
c.758-2510G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62862221
chr2:62862296 C
C
 T
T
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.758-2435C>T
c.758-2435C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62862296
chr2:62862299 G
G
 A
A
 110 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(107): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 110 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(107): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01175.hp2
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19077.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.758-2432G>A
c.758-2432G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62862299
chr2:62862482 C
C
 T
T
 1 a0001c0001t0001g0173
a0001c0001t0001g0173
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.758-2249C>T
c.758-2249C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62862482
chr2:62862499 C
C
 A
A
 148 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(145): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 148 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(145): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18972.hp2
NA18984.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.758-2232C>A
c.758-2232C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62862499
chr2:62862509 T
T
 C
C
 96 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(93): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 96 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(93): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01175.hp2
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19077.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.758-2222T>C
c.758-2222T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62862509
chr2:62862625 AT
AT
 A
A
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.758-2105delT
c.758-2105delT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62862625
chr2:62862926 C
C
 A
A
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.758-1805C>A
c.758-1805C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62862926
chr2:62862930 G
G
 A
A
 148 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(145): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 148 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(145): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18972.hp2
NA18984.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.758-1801G>A
c.758-1801G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62862930
chr2:62863158 C
C
 A
A
 2 a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0062
a0001c0001t0001g0065
 2 HG03139.hp1
NA19240.hp2
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.758-1573C>A
c.758-1573C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62863158
chr2:62863281 T
T
 TCA
TCA
 16 a0001c0001t0001g0107
a0001c0001t0001g0194
a0001c0001t0002g0108
others(13): Show 
a0001c0001t0001g0107
a0001c0001t0001g0194
a0001c0001t0002g0108
a0001c0001t0002g0109
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
 16 HG00438.hp1
HG01074.hp2
HG01123.hp1
others(13): Show 
HG00438.hp1
HG01074.hp2
HG01123.hp1
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18963.hp1
NA18992.hp2
NA18995.hp1
NA19068.hp1
NA19077.hp2
 intron_variant MODIFIER c.758-1432_758-1431d
others(4): Show 
c.758-1432_758-1431dupAC
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 INFO_REALIGN_3_PRIME chr2 62863281
chr2:62863431 A
A
 G
G
 1 a0001c0001t0001g0028
a0001c0001t0001g0028
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.758-1300A>G
c.758-1300A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62863431
chr2:62863533 A
A
 G
G
 1 a0001c0001t0001g0175
a0001c0001t0001g0175
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.758-1198A>G
c.758-1198A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62863533
chr2:62863819 T
T
 A
A
 66 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(63): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0057
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
 66 HG00099.hp1
HG00280.hp1
HG00544.hp1
others(63): Show 
HG00099.hp1
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02735.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03491.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.758-912T>A
c.758-912T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62863819
chr2:62863837 G
G
 GT
GT
 27 a0001c0001t0001g0017
a0001c0001t0001g0021
a0001c0001t0001g0043
others(24): Show 
a0001c0001t0001g0017
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0153
a0001c0001t0001g0162
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0002g0168
a0001c0004t0003g0114
a0001c0006t0001g0160
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0014
a0002c0002t0001g0125
a0002c0002t0001g0131
 27 HG00099.hp1
HG00639.hp1
HG00738.hp1
others(24): Show 
HG00099.hp1
HG00639.hp1
HG00738.hp1
HG01346.hp1
HG01496.hp2
HG02145.hp2
HG02602.hp1
HG02809.hp1
HG02965.hp2
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp2
NA18906.hp2
NA18954.hp1
NA18960.hp2
NA18989.hp1
NA19010.hp1
NA20300.hp1
NA20752.hp2
 intron_variant MODIFIER c.758-892dupT
c.758-892dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 INFO_REALIGN_3_PRIME chr2 62863837
chr2:62863837 G
G
 GTT
GTT
 8 a0001c0001t0001g0003
a0001c0001t0001g0194
a0001c0003t0001g0189
others(5): Show 
a0001c0001t0001g0003
a0001c0001t0001g0194
a0001c0003t0001g0189
a0001c0004t0003g0115
a0002c0002t0001g0005
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0071
 8 HG00438.hp1
HG01074.hp2
HG01123.hp1
others(5): Show 
HG00438.hp1
HG01074.hp2
HG01123.hp1
HG01258.hp1
HG01361.hp2
HG02280.hp2
HG02717.hp2
NA19077.hp2
 intron_variant MODIFIER c.758-893_758-892dup
others(2): Show 
c.758-893_758-892dupTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 INFO_REALIGN_3_PRIME chr2 62863837
chr2:62863837 G
G
 GTTT
GTTT
 9 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0069
others(6): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0003t0001g0186
a0001c0003t0001g0188
a0001c0003t0001g0190
a0002c0002t0001g0011
 9 HG01256.hp1
HG01515.hp2
HG02300.hp2
others(6): Show 
HG01256.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
HG03130.hp1
NA18906.hp1
NA18995.hp1
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.758-892_758-891ins
others(3): Show 
c.758-892_758-891insTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 INFO_REALIGN_3_PRIME chr2 62863837
chr2:62863837 G
G
 GTTTT
GTTTT
 7 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0072
others(4): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0003t0001g0191
a0002c0002t0001g0004
 7 HG00642.hp1
HG01261.hp1
HG01361.hp1
others(4): Show 
HG00642.hp1
HG01261.hp1
HG01361.hp1
HG02735.hp2
HG03540.hp2
HG03831.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.758-892_758-891ins
others(4): Show 
c.758-892_758-891insTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 INFO_REALIGN_3_PRIME chr2 62863837
chr2:62863837 GTTGTTTT
others(4): Show 
GTTGTTTTTTTT
 G
G
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.758-891_758-881del
others(11): Show 
c.758-891_758-881delGTTTTTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 INFO_REALIGN_3_PRIME chr2 62863837
chr2:62863839 TG
TG
 T
T
 6 a0001c0001t0001g0057
a0001c0001t0001g0140
a0001c0001t0001g0149
others(3): Show 
a0001c0001t0001g0057
a0001c0001t0001g0140
a0001c0001t0001g0149
a0001c0001t0001g0156
a0001c0001t0001g0183
a0001c0003t0001g0187
 6 HG02109.hp1
HG02602.hp2
HG03453.hp1
others(3): Show 
HG02109.hp1
HG02602.hp2
HG03453.hp1
NA18962.hp2
NA18998.hp2
NA19240.hp1
 intron_variant MODIFIER c.758-891delG
c.758-891delG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62863839
chr2:62863840 G
G
 GT
GT
 43 a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0046
others(40): Show 
a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0106
a0001c0001t0001g0122
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0007t0002g0097
a0001c0008t0001g0076
 43 HG00438.hp2
HG00544.hp2
HG00558.hp1
others(40): Show 
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG01070.hp1
HG01071.hp2
HG01167.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02809.hp2
NA18747.hp2
NA18951.hp1
NA18954.hp2
NA18960.hp1
NA18962.hp1
NA18972.hp1
NA18984.hp1
NA18992.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.758-866dupT
c.758-866dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 INFO_REALIGN_3_PRIME chr2 62863840
chr2:62863840 G
G
 GTT
GTT
 40 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
others(37): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0098
a0001c0001t0001g0107
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0182
a0001c0001t0001g0192
a0001c0001t0002g0083
a0001c0001t0002g0087
a0001c0001t0002g0091
a0004c0009t0001g0197
 40 HG00099.hp2
HG00280.hp2
HG00642.hp2
others(37): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp2
HG00738.hp2
HG01074.hp1
HG01167.hp1
HG01175.hp1
HG01243.hp2
HG01256.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp2
HG02015.hp1
HG02135.hp2
HG02258.hp1
HG02293.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18963.hp1
NA18984.hp2
NA18995.hp2
NA18999.hp1
NA19010.hp2
NA19012.hp1
NA19079.hp2
 intron_variant MODIFIER c.758-867_758-866dup
others(2): Show 
c.758-867_758-866dupTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 INFO_REALIGN_3_PRIME chr2 62863840
chr2:62863840 G
G
 T
T
 90 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(87): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
 90 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(87): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19077.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.758-891G>T
c.758-891G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62863840
chr2:62864118 G
G
 A
A
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.758-613G>A
c.758-613G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62864118
chr2:62864291 T
T
 C
C
 97 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(94): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 97 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(94): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01175.hp2
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19077.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.758-440T>C
c.758-440T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62864291
chr2:62864598 A
A
 G
G
 1 a0001c0001t0002g0092
a0001c0001t0002g0092
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.758-133A>G
c.758-133A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 8/22 chr2 62864598
chr2:62865074 A
A
 G
G
 1 a0001c0001t0002g0096
a0001c0001t0002g0096
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.998+103A>G
c.998+103A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62865074
chr2:62865098 G
G
 A
A
 1 a0002c0002t0001g0012
a0002c0002t0001g0012
 1 NA19077.hp2
NA19077.hp2
 intron_variant MODIFIER c.998+127G>A
c.998+127G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62865098
chr2:62865310 G
G
 T
T
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 NA18955.hp2
NA18955.hp2
 intron_variant MODIFIER c.998+339G>T
c.998+339G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62865310
chr2:62865357 G
G
 C
C
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.998+386G>C
c.998+386G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62865357
chr2:62866101 G
G
 A
A
 4 a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
others(1): Show 
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
 4 HG01884.hp2
HG02818.hp2
HG02922.hp2
others(1): Show 
HG01884.hp2
HG02818.hp2
HG02922.hp2
HG03130.hp2
 intron_variant MODIFIER c.998+1130G>A
c.998+1130G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62866101
chr2:62866651 A
A
 G
G
 1 a0001c0001t0001g0183
a0001c0001t0001g0183
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.998+1680A>G
c.998+1680A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62866651
chr2:62866749 G
G
 A
A
 4 a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
others(1): Show 
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
 4 HG01167.hp2
HG02280.hp2
HG02809.hp2
others(1): Show 
HG01167.hp2
HG02280.hp2
HG02809.hp2
NA20300.hp1
 intron_variant MODIFIER c.998+1778G>A
c.998+1778G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62866749
chr2:62867473 C
C
 A
A
 1 a0001c0001t0001g0126
a0001c0001t0001g0126
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.998+2502C>A
c.998+2502C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62867473
chr2:62867543 C
C
 T
T
 1 a0001c0001t0001g0150
a0001c0001t0001g0150
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.998+2572C>T
c.998+2572C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62867543
chr2:62867708 G
G
 A
A
 1 a0001c0001t0001g0178
a0001c0001t0001g0178
 1 HG02293.hp2
HG02293.hp2
 intron_variant MODIFIER c.998+2737G>A
c.998+2737G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62867708
chr2:62868172 C
C
 T
T
 1 a0001c0001t0001g0150
a0001c0001t0001g0150
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.998+3201C>T
c.998+3201C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62868172
chr2:62868654 T
T
 TA
TA
 106 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(103): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
 106 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(103): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18955.hp2
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18984.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19068.hp2
NA19077.hp2
NA19079.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.998+3685dupA
c.998+3685dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 INFO_REALIGN_3_PRIME chr2 62868654
chr2:62868657 G
G
 A
A
 106 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(103): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
 106 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(103): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18955.hp2
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18984.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19068.hp2
NA19077.hp2
NA19079.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.998+3686G>A
c.998+3686G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62868657
chr2:62869011 A
A
 G
G
 1 a0001c0001t0001g0021
a0001c0001t0001g0021
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.998+4040A>G
c.998+4040A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62869011
chr2:62869044 G
G
 A
A
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.998+4073G>A
c.998+4073G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62869044
chr2:62870083 G
G
 A
A
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.999-4263G>A
c.999-4263G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62870083
chr2:62870487 GGTGGATC
others(18): Show 
GGTGGATCACCTGAGGTCAGGAGTTT
 G
G
 2 a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0001g0118
a0001c0004t0001g0121
 2 HG01167.hp2
HG02809.hp2
HG01167.hp2
HG02809.hp2
 intron_variant MODIFIER c.999-3857_999-3833d
others(27): Show 
c.999-3857_999-3833delTGGATCACCTGAGGTCAGGAGTTTG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 INFO_REALIGN_3_PRIME chr2 62870487
chr2:62870715 C
C
 CA
CA
 5 a0001c0001t0001g0031
a0001c0001t0001g0034
a0001c0001t0001g0050
others(2): Show 
a0001c0001t0001g0031
a0001c0001t0001g0034
a0001c0001t0001g0050
a0001c0001t0001g0060
a0001c0001t0001g0137
 5 HG00621.hp2
HG01074.hp1
HG03831.hp1
others(2): Show 
HG00621.hp2
HG01074.hp1
HG03831.hp1
NA18984.hp2
NA19068.hp2
 intron_variant MODIFIER c.999-3611dupA
c.999-3611dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 INFO_REALIGN_3_PRIME chr2 62870715
chr2:62870715 CA
CA
 C
C
 80 a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
others(77): Show 
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0059
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0143
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
 80 HG00280.hp1
HG00558.hp2
HG00621.hp1
others(77): Show 
HG00280.hp1
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG01070.hp1
HG01074.hp2
HG01167.hp1
HG01175.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02135.hp1
HG02145.hp2
HG02165.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp1
HG03540.hp2
HG03710.hp1
HG03710.hp2
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18952.hp2
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.999-3611delA
c.999-3611delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 INFO_REALIGN_3_PRIME chr2 62870715
chr2:62870715 CAA
CAA
 C
C
 33 a0001c0001t0001g0001
a0001c0001t0001g0043
a0001c0001t0001g0044
others(30): Show 
a0001c0001t0001g0001
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0138
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0168
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0003c0005t0001g0163
a0003c0005t0001g0164
 33 HG00099.hp1
HG00438.hp1
HG00544.hp1
others(30): Show 
HG00099.hp1
HG00438.hp1
HG00544.hp1
HG00639.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01123.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02735.hp2
HG02809.hp1
HG02886.hp2
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03704.hp2
HG03831.hp2
HG03927.hp1
NA18612.hp2
NA18954.hp1
NA18960.hp2
NA18972.hp2
NA18989.hp1
NA18995.hp1
NA19077.hp2
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.999-3612_999-3611d
others(4): Show 
c.999-3612_999-3611delAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 INFO_REALIGN_3_PRIME chr2 62870715
chr2:62870715 CAAA
CAAA
 C
C
 7 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0061
others(4): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0067
a0001c0001t0005g0066
a0002c0002t0001g0195
 7 HG01256.hp1
HG01258.hp1
HG02109.hp2
others(4): Show 
HG01256.hp1
HG01258.hp1
HG02109.hp2
HG02280.hp1
HG02886.hp1
HG03098.hp2
HG03540.hp1
 intron_variant MODIFIER c.999-3613_999-3611d
others(5): Show 
c.999-3613_999-3611delAAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 INFO_REALIGN_3_PRIME chr2 62870715
chr2:62870734 A
A
 ATACATAC
others(22): Show 
ATACATACATATATATATATATATATATAT
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.999-3612_999-3611i
others(31): Show 
c.999-3612_999-3611insTACATACATATATATATATATATATATA
T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62870734
chr2:62870734 A
A
 T
T
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.999-3612A>T
c.999-3612A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62870734
chr2:62870736 T
T
 C
C
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.999-3610T>C
c.999-3610T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62870736
chr2:62870738 C
C
 T
T
 5 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(2): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
a0004c0009t0001g0197
 5 HG01243.hp2
HG02258.hp2
HG02717.hp1
others(2): Show 
HG01243.hp2
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.999-3608C>T
c.999-3608C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62870738
chr2:62870913 A
A
 C
C
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.999-3433A>C
c.999-3433A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62870913
chr2:62870930 A
A
 G
G
 4 a0001c0001t0001g0161
a0001c0001t0001g0165
a0003c0005t0001g0163
others(1): Show 
a0001c0001t0001g0161
a0001c0001t0001g0165
a0003c0005t0001g0163
a0003c0005t0001g0164
 4 HG01070.hp2
HG01071.hp1
HG01261.hp2
others(1): Show 
HG01070.hp2
HG01071.hp1
HG01261.hp2
NA18972.hp2
 intron_variant MODIFIER c.999-3416A>G
c.999-3416A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62870930
chr2:62871080 CAT
CAT
 C
C
 2 a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0078
a0001c0001t0001g0079
 2 HG02258.hp2
HG02717.hp1
HG02258.hp2
HG02717.hp1
 intron_variant MODIFIER c.999-3265_999-3264d
others(4): Show 
c.999-3265_999-3264delAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62871080
chr2:62871484 G
G
 A
A
 3 a0001c0001t0001g0141
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0141
a0001c0001t0001g0150
a0001c0001t0001g0175
 3 HG02165.hp2
NA18747.hp1
NA19057.hp1
HG02165.hp2
NA18747.hp1
NA19057.hp1
 intron_variant MODIFIER c.999-2862G>A
c.999-2862G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62871484
chr2:62871953 T
T
 G
G
 2 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0016
a0001c0001t0001g0017
 2 HG03195.hp2
NA19043.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.999-2393T>G
c.999-2393T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62871953
chr2:62872011 A
A
 G
G
 2 a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0078
a0001c0001t0001g0079
 2 HG02258.hp2
HG02717.hp1
HG02258.hp2
HG02717.hp1
 intron_variant MODIFIER c.999-2335A>G
c.999-2335A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62872011
chr2:62872043 A
A
 T
T
 1 a0001c0001t0001g0124
a0001c0001t0001g0124
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.999-2303A>T
c.999-2303A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62872043
chr2:62872221 G
G
 A
A
 150 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(147): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 150 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(147): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18972.hp2
NA18984.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.999-2125G>A
c.999-2125G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62872221
chr2:62872289 T
T
 C
C
 2 a0001c0001t0001g0138
a0001c0001t0001g0148
a0001c0001t0001g0138
a0001c0001t0001g0148
 2 HG00544.hp1
NA19009.hp2
HG00544.hp1
NA19009.hp2
 intron_variant MODIFIER c.999-2057T>C
c.999-2057T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62872289
chr2:62873397 A
A
 C
C
 2 a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0001g0118
a0001c0004t0001g0121
 2 HG01167.hp2
HG02809.hp2
HG01167.hp2
HG02809.hp2
 intron_variant MODIFIER c.999-949A>C
c.999-949A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62873397
chr2:62874035 G
G
 A
A
 5 a0001c0001t0001g0029
a0001c0001t0001g0034
a0001c0001t0001g0040
others(2): Show 
a0001c0001t0001g0029
a0001c0001t0001g0034
a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0098
 5 HG01981.hp2
HG03239.hp1
HG03831.hp1
others(2): Show 
HG01981.hp2
HG03239.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
 intron_variant MODIFIER c.999-311G>A
c.999-311G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62874035
chr2:62874319 T
T
 G
G
 2 a0001c0001t0002g0094
a0001c0001t0002g0099
a0001c0001t0002g0094
a0001c0001t0002g0099
 2 HG01346.hp2
NA20805.hp2
HG01346.hp2
NA20805.hp2
 intron_variant MODIFIER c.999-27T>G
c.999-27T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 9/22 chr2 62874319
chr2:62874670 C
C
 G
G
 1 a0001c0001t0002g0088
a0001c0001t0002g0088
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.1185+138C>G
c.1185+138C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62874670
chr2:62874877 G
G
 A
A
 38 a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
others(35): Show 
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
 38 HG00544.hp2
HG00558.hp1
HG00639.hp2
others(35): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp2
HG01167.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02809.hp2
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18998.hp1
NA19012.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.1185+345G>A
c.1185+345G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62874877
chr2:62875280 C
C
 T
T
 1 a0001c0001t0001g0196
a0001c0001t0001g0196
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.1185+748C>T
c.1185+748C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62875280
chr2:62876152 T
T
 C
C
 2 a0002c0002t0001g0005
a0002c0002t0001g0131
a0002c0002t0001g0005
a0002c0002t0001g0131
 2 HG00438.hp1
NA18612.hp2
HG00438.hp1
NA18612.hp2
 intron_variant MODIFIER c.1185+1620T>C
c.1185+1620T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62876152
chr2:62876235 G
G
 A
A
 2 a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0119
a0001c0001t0001g0120
 2 HG02922.hp1
HG02970.hp2
HG02922.hp1
HG02970.hp2
 intron_variant MODIFIER c.1185+1703G>A
c.1185+1703G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62876235
chr2:62876327 G
G
 C
C
 1 a0001c0001t0001g0138
a0001c0001t0001g0138
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.1185+1795G>C
c.1185+1795G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62876327
chr2:62876397 A
A
 G
G
 2 a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0152
a0001c0001t0001g0153
 2 HG02040.hp2
NA19010.hp1
HG02040.hp2
NA19010.hp1
 intron_variant MODIFIER c.1185+1865A>G
c.1185+1865A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62876397
chr2:62876412 T
T
 G
G
 2 a0003c0005t0001g0163
a0003c0005t0001g0164
a0003c0005t0001g0163
a0003c0005t0001g0164
 2 HG01070.hp2
HG01071.hp1
HG01070.hp2
HG01071.hp1
 intron_variant MODIFIER c.1185+1880T>G
c.1185+1880T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62876412
chr2:62876462 C
C
 A
A
 37 a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
others(34): Show 
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
 37 HG00544.hp2
HG00558.hp1
HG00639.hp2
others(34): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp2
HG01071.hp2
HG01167.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02809.hp2
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18998.hp1
NA19012.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.1185+1930C>A
c.1185+1930C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62876462
chr2:62876890 T
T
 C
C
 16 a0001c0001t0001g0043
a0001c0001t0001g0044
a0002c0002t0001g0004
others(13): Show 
a0001c0001t0001g0043
a0001c0001t0001g0044
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0004c0009t0001g0197
 16 HG00438.hp1
HG01123.hp1
HG01243.hp2
others(13): Show 
HG00438.hp1
HG01123.hp1
HG01243.hp2
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02809.hp1
HG02886.hp1
HG03471.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1185+2358T>C
c.1185+2358T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62876890
chr2:62876987 C
C
 G
G
 13 a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
others(10): Show 
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
 13 HG00438.hp1
HG01123.hp1
HG01361.hp2
others(10): Show 
HG00438.hp1
HG01123.hp1
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1185+2455C>G
c.1185+2455C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62876987
chr2:62876999 A
A
 G
G
 1 a0001c0001t0001g0167
a0001c0001t0001g0167
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.1185+2467A>G
c.1185+2467A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62876999
chr2:62877769 T
T
 C
C
 93 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(90): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0003c0005t0001g0163
a0003c0005t0001g0164
 93 HG00099.hp1
HG00280.hp1
HG00544.hp1
others(90): Show 
HG00099.hp1
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp2
HG01167.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01515.hp2
HG01884.hp2
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18952.hp2
NA18955.hp2
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18984.hp2
NA18989.hp1
NA18992.hp1
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19068.hp2
NA19079.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1185+3237T>C
c.1185+3237T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62877769
chr2:62877967 A
A
 T
T
 1 a0001c0001t0002g0087
a0001c0001t0002g0087
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.1185+3435A>T
c.1185+3435A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62877967
chr2:62878006 G
G
 A
A
 1 a0001c0001t0001g0126
a0001c0001t0001g0126
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.1185+3474G>A
c.1185+3474G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62878006
chr2:62878550 A
A
 G
G
 1 a0001c0006t0001g0160
a0001c0006t0001g0160
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1185+4018A>G
c.1185+4018A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62878550
chr2:62878653 T
T
 C
C
 3 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
 3 HG02818.hp1
HG02886.hp2
HG03139.hp2
HG02818.hp1
HG02886.hp2
HG03139.hp2
 intron_variant MODIFIER c.1185+4121T>C
c.1185+4121T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62878653
chr2:62878853 A
A
 G
G
 1 a0001c0001t0002g0091
a0001c0001t0002g0091
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.1185+4321A>G
c.1185+4321A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62878853
chr2:62879025 A
A
 C
C
 1 a0001c0001t0001g0127
a0001c0001t0001g0127
 1 NA18951.hp2
NA18951.hp2
 intron_variant MODIFIER c.1185+4493A>C
c.1185+4493A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62879025
chr2:62879032 C
C
 A
A
 2 a0001c0001t0001g0056
a0001c0001t0001g0169
a0001c0001t0001g0056
a0001c0001t0001g0169
 2 HG03927.hp1
NA20752.hp1
HG03927.hp1
NA20752.hp1
 intron_variant MODIFIER c.1185+4500C>A
c.1185+4500C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62879032
chr2:62879397 C
C
 T
T
 1 a0001c0001t0002g0143
a0001c0001t0002g0143
 1 NA18963.hp2
NA18963.hp2
 intron_variant MODIFIER c.1185+4865C>T
c.1185+4865C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62879397
chr2:62879546 A
A
 AAC
AAC
 12 a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0042
others(9): Show 
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0042
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0063
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0144
a0001c0001t0001g0198
 12 HG00438.hp2
HG01074.hp1
HG01175.hp2
others(9): Show 
HG00438.hp2
HG01074.hp1
HG01175.hp2
HG01515.hp1
HG02109.hp2
HG02622.hp2
HG02818.hp1
HG03139.hp2
HG03927.hp2
NA18747.hp2
NA18995.hp2
NA19057.hp2
 intron_variant MODIFIER c.1185+5058_1185+505
others(6): Show 
c.1185+5058_1185+5059dupCA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62879546
chr2:62879546 A
A
 AACAC
AACAC
 18 a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
others(15): Show 
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0142
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0002g0084
a0001c0001t0002g0095
 18 HG01123.hp2
HG01167.hp1
HG01257.hp1
others(15): Show 
HG01123.hp2
HG01167.hp1
HG01257.hp1
HG02135.hp1
HG02293.hp2
HG02735.hp1
HG02965.hp2
HG03017.hp2
NA18952.hp2
NA18954.hp2
NA18955.hp2
NA18984.hp2
NA18989.hp2
NA18992.hp1
NA18999.hp1
NA19010.hp1
NA19068.hp2
NA19079.hp2
 intron_variant MODIFIER c.1185+5056_1185+505
others(8): Show 
c.1185+5056_1185+5059dupCACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62879546
chr2:62879546 A
A
 AACACAC
AACACAC
 18 a0001c0001t0001g0140
a0001c0001t0001g0152
a0001c0001t0001g0177
others(15): Show 
a0001c0001t0001g0140
a0001c0001t0001g0152
a0001c0001t0001g0177
a0001c0001t0001g0182
a0001c0001t0002g0037
a0001c0001t0002g0081
a0001c0001t0002g0087
a0001c0001t0002g0090
a0001c0001t0002g0093
a0001c0001t0002g0096
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0112
a0001c0001t0002g0143
a0001c0004t0003g0114
a0002c0002t0001g0071
a0002c0002t0001g0195
 18 HG00639.hp2
HG00642.hp2
HG01257.hp2
others(15): Show 
HG00639.hp2
HG00642.hp2
HG01257.hp2
HG01258.hp2
HG01361.hp2
HG01981.hp1
HG02015.hp1
HG02040.hp2
HG02135.hp2
HG02145.hp1
HG02293.hp1
HG02698.hp1
HG02886.hp1
NA18951.hp1
NA18963.hp2
NA18998.hp2
NA19012.hp2
NA20300.hp1
 intron_variant MODIFIER c.1185+5054_1185+505
others(10): Show 
c.1185+5054_1185+5059dupCACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62879546
chr2:62879546 A
A
 AACACACA
others(1): Show 
AACACACAC
 17 a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
others(14): Show 
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0001g0185
a0001c0001t0002g0080
a0001c0001t0002g0086
a0001c0001t0002g0094
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0004t0001g0118
a0001c0007t0002g0097
 17 HG00558.hp1
HG01070.hp1
HG01167.hp2
others(14): Show 
HG00558.hp1
HG01070.hp1
HG01167.hp2
HG01243.hp1
HG01346.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02300.hp1
HG02886.hp2
NA18960.hp1
NA18963.hp1
NA18984.hp1
NA18992.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
 intron_variant MODIFIER c.1185+5052_1185+505
others(12): Show 
c.1185+5052_1185+5059dupCACACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62879546
chr2:62879546 A
A
 AACACACA
others(3): Show 
AACACACACAC
 6 a0001c0001t0001g0194
a0001c0001t0002g0083
a0001c0001t0002g0085
others(3): Show 
a0001c0001t0001g0194
a0001c0001t0002g0083
a0001c0001t0002g0085
a0001c0001t0002g0088
a0001c0001t0002g0102
a0001c0004t0001g0121
 6 HG01071.hp2
HG01074.hp2
HG02155.hp2
others(3): Show 
HG01071.hp2
HG01074.hp2
HG02155.hp2
HG02809.hp2
NA18955.hp1
NA19079.hp1
 intron_variant MODIFIER c.1185+5050_1185+505
others(14): Show 
c.1185+5050_1185+5059dupCACACACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62879546
chr2:62879546 A
A
 AACACACA
others(5): Show 
AACACACACACAC
 5 a0001c0001t0002g0092
a0002c0002t0001g0005
a0002c0002t0001g0012
others(2): Show 
a0001c0001t0002g0092
a0002c0002t0001g0005
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0131
 5 HG00438.hp1
HG00544.hp2
HG01123.hp1
others(2): Show 
HG00438.hp1
HG00544.hp2
HG01123.hp1
NA18612.hp2
NA19077.hp2
 intron_variant MODIFIER c.1185+5048_1185+505
others(16): Show 
c.1185+5048_1185+5059dupCACACACACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62879546
chr2:62879546 A
A
 AACACACA
others(7): Show 
AACACACACACACAC
 5 a0001c0001t0002g0082
a0001c0001t0002g0091
a0001c0004t0003g0115
others(2): Show 
a0001c0001t0002g0082
a0001c0001t0002g0091
a0001c0004t0003g0115
a0002c0002t0001g0004
a0002c0002t0001g0014
 5 HG01496.hp2
HG02280.hp2
HG03704.hp1
others(2): Show 
HG01496.hp2
HG02280.hp2
HG03704.hp1
HG03831.hp2
NA18998.hp1
 intron_variant MODIFIER c.1185+5046_1185+505
others(18): Show 
c.1185+5046_1185+5059dupCACACACACACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62879546
chr2:62879546 A
A
 AACACACA
others(9): Show 
AACACACACACACACAC
 1 a0002c0002t0001g0125
a0002c0002t0001g0125
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.1185+5044_1185+505
others(20): Show 
c.1185+5044_1185+5059dupCACACACACACACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62879546
chr2:62879546 A
A
 AACACACA
others(11): Show 
AACACACACACACACACAC
 1 a0002c0002t0001g0008
a0002c0002t0001g0008
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.1185+5042_1185+505
others(22): Show 
c.1185+5042_1185+5059dupCACACACACACACACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62879546
chr2:62879546 AAC
AAC
 A
A
 41 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
others(38): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0028
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0041
a0001c0001t0001g0050
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0073
a0001c0001t0001g0078
a0001c0001t0001g0123
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0138
a0001c0001t0001g0141
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0150
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0162
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0173
a0001c0001t0001g0183
a0001c0001t0001g0196
a0001c0001t0002g0176
a0001c0003t0001g0189
a0001c0006t0001g0160
 41 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(38): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00738.hp1
HG00738.hp2
HG01256.hp1
HG01258.hp1
HG01496.hp1
HG01884.hp2
HG02071.hp1
HG02109.hp1
HG02258.hp2
HG02559.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03710.hp1
HG03710.hp2
HG03927.hp1
NA18612.hp1
NA18747.hp1
NA18951.hp2
NA18962.hp1
NA18962.hp2
NA18989.hp1
NA19009.hp2
NA19057.hp1
 intron_variant MODIFIER c.1185+5058_1185+505
others(6): Show 
c.1185+5058_1185+5059delCA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62879546
chr2:62879546 AACAC
AACAC
 A
A
 28 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0024
others(25): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0024
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0039
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0193
a0001c0001t0002g0168
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0010t0001g0155
 28 HG00642.hp1
HG01175.hp1
HG01256.hp2
others(25): Show 
HG00642.hp1
HG01175.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01515.hp2
HG01884.hp1
HG02300.hp2
HG02717.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03490.hp1
HG03491.hp1
HG03540.hp2
HG03704.hp2
HG04228.hp2
NA18906.hp1
NA18960.hp2
NA18972.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1185+5056_1185+505
others(8): Show 
c.1185+5056_1185+5059delCACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62879546
chr2:62879546 AACACAC
AACACAC
 A
A
 10 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0044
others(7): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0044
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0167
a0001c0001t0001g0181
a0001c0008t0001g0076
a0003c0005t0001g0163
a0003c0005t0001g0164
 10 HG00639.hp1
HG01070.hp2
HG01071.hp1
others(7): Show 
HG00639.hp1
HG01070.hp2
HG01071.hp1
HG02922.hp1
HG02970.hp2
HG03195.hp2
HG03453.hp2
HG03471.hp1
NA19043.hp1
NA19043.hp2
 intron_variant MODIFIER c.1185+5054_1185+505
others(10): Show 
c.1185+5054_1185+5059delCACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62879546
chr2:62879590 C
C
 CACACACA
others(9): Show 
CACACACACACACACAG
 1 a0002c0002t0001g0011
a0002c0002t0001g0011
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.1185+5059_1185+506
others(20): Show 
c.1185+5059_1185+5060insCACACACACACACAGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62879590
chr2:62879590 C
C
 G
G
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.1185+5058C>G
c.1185+5058C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62879590
chr2:62879592 G
G
 C
C
 1 a0002c0002t0001g0195
a0002c0002t0001g0195
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1185+5060G>C
c.1185+5060G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62879592
chr2:62879596 C
C
 G
G
 15 a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
others(12): Show 
a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0004c0009t0001g0197
 15 HG00438.hp1
HG01074.hp2
HG01123.hp1
others(12): Show 
HG00438.hp1
HG01074.hp2
HG01123.hp1
HG01243.hp2
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1185+5064C>G
c.1185+5064C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62879596
chr2:62879635 T
T
 G
G
 1 a0001c0001t0001g0006
a0001c0001t0001g0006
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.1185+5103T>G
c.1185+5103T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62879635
chr2:62879649 T
T
 C
C
 108 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(105): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0039
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 108 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(105): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18955.hp2
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18984.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19068.hp2
NA19077.hp2
NA19079.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1185+5117T>C
c.1185+5117T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62879649
chr2:62879703 C
C
 A
A
 1 a0001c0001t0001g0173
a0001c0001t0001g0173
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.1185+5171C>A
c.1185+5171C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62879703
chr2:62879743 T
T
 C
C
 4 a0001c0001t0001g0007
a0001c0001t0001g0069
a0001c0001t0001g0070
others(1): Show 
a0001c0001t0001g0007
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
 4 HG01261.hp1
HG01361.hp1
HG01515.hp2
others(1): Show 
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG02300.hp2
 intron_variant MODIFIER c.1185+5211T>C
c.1185+5211T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62879743
chr2:62879889 A
A
 G
G
 1 a0001c0001t0002g0088
a0001c0001t0002g0088
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.1185+5357A>G
c.1185+5357A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62879889
chr2:62880334 A
A
 G
G
 1 a0001c0001t0001g0129
a0001c0001t0001g0129
 1 NA18999.hp1
NA18999.hp1
 intron_variant MODIFIER c.1185+5802A>G
c.1185+5802A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62880334
chr2:62880346 GA
GA
 G
G
 84 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(81): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0039
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0010t0001g0155
a0003c0005t0001g0163
a0003c0005t0001g0164
 84 HG00099.hp1
HG00280.hp1
HG00544.hp1
others(81): Show 
HG00099.hp1
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01175.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01515.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1185+5828delA
c.1185+5828delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62880346
chr2:62880563 G
G
 A
A
 1 a0001c0001t0001g0030
a0001c0001t0001g0030
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.1185+6031G>A
c.1185+6031G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62880563
chr2:62880596 G
G
 A
A
 2 a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0062
a0001c0001t0001g0065
 2 HG03139.hp1
NA19240.hp2
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.1185+6064G>A
c.1185+6064G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62880596
chr2:62880636 G
G
 T
T
 1 a0001c0001t0001g0182
a0001c0001t0001g0182
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.1185+6104G>T
c.1185+6104G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62880636
chr2:62880737 A
A
 G
G
 1 a0001c0001t0001g0162
a0001c0001t0001g0162
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.1185+6205A>G
c.1185+6205A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62880737
chr2:62880809 T
T
 C
C
 38 a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
others(35): Show 
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
 38 HG00544.hp2
HG00558.hp1
HG00639.hp2
others(35): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp2
HG01167.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02809.hp2
HG03704.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18998.hp1
NA19012.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20300.hp1
 intron_variant MODIFIER c.1185+6277T>C
c.1185+6277T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62880809
chr2:62881026 G
G
 GTA
GTA
 14 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(11): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
 14 HG00642.hp1
HG01261.hp1
HG01361.hp1
others(11): Show 
HG00642.hp1
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG03130.hp1
HG03540.hp2
NA18906.hp1
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1185+6505_1185+650
others(6): Show 
c.1185+6505_1185+6506dupTA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62881026
chr2:62881028 A
A
 G
G
 1 a0001c0001t0001g0170
a0001c0001t0001g0170
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.1185+6496A>G
c.1185+6496A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62881028
chr2:62881162 T
T
 C
C
 6 a0001c0001t0001g0123
a0001c0001t0001g0133
a0001c0001t0001g0134
others(3): Show 
a0001c0001t0001g0123
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0159
 6 HG02145.hp2
HG02559.hp1
HG02622.hp1
others(3): Show 
HG02145.hp2
HG02559.hp1
HG02622.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.1185+6630T>C
c.1185+6630T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62881162
chr2:62881168 C
C
 T
T
 6 a0001c0001t0001g0123
a0001c0001t0001g0133
a0001c0001t0001g0134
others(3): Show 
a0001c0001t0001g0123
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0159
 6 HG02145.hp2
HG02559.hp1
HG02622.hp1
others(3): Show 
HG02145.hp2
HG02559.hp1
HG02622.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.1185+6636C>T
c.1185+6636C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62881168
chr2:62881172 T
T
 C
C
 1 a0001c0001t0001g0173
a0001c0001t0001g0173
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.1185+6640T>C
c.1185+6640T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62881172
chr2:62881209 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1185+6677A>G
c.1185+6677A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62881209
chr2:62881244 G
G
 T
T
 2 a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0119
a0001c0001t0001g0120
 2 HG02922.hp1
HG02970.hp2
HG02922.hp1
HG02970.hp2
 intron_variant MODIFIER c.1185+6712G>T
c.1185+6712G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62881244
chr2:62881381 G
G
 A
A
 3 a0001c0001t0002g0091
a0001c0001t0002g0094
a0001c0007t0002g0097
a0001c0001t0002g0091
a0001c0001t0002g0094
a0001c0007t0002g0097
 3 HG01070.hp1
HG01346.hp2
HG03704.hp1
HG01070.hp1
HG01346.hp2
HG03704.hp1
 intron_variant MODIFIER c.1185+6849G>A
c.1185+6849G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62881381
chr2:62881416 C
C
 T
T
 1 a0001c0001t0002g0086
a0001c0001t0002g0086
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.1185+6884C>T
c.1185+6884C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62881416
chr2:62881418 G
G
 GA
GA
 36 a0001c0001t0001g0026
a0001c0001t0001g0039
a0001c0001t0001g0040
others(33): Show 
a0001c0001t0001g0026
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0138
a0001c0001t0001g0144
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0001g0194
a0001c0001t0002g0103
a0001c0001t0002g0168
a0001c0001t0005g0066
a0001c0008t0001g0076
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
 36 HG00099.hp2
HG00438.hp1
HG00544.hp1
others(33): Show 
HG00099.hp2
HG00438.hp1
HG00544.hp1
HG01074.hp2
HG01123.hp1
HG01175.hp1
HG01175.hp2
HG01361.hp2
HG01496.hp2
HG02109.hp2
HG02258.hp2
HG02280.hp1
HG02293.hp1
HG02602.hp1
HG02602.hp2
HG02717.hp1
HG02886.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
HG04228.hp1
NA18612.hp2
NA18954.hp1
NA18955.hp2
NA18960.hp2
NA18972.hp1
NA18995.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19065.hp2
NA19077.hp2
NA19240.hp2
 intron_variant MODIFIER c.1185+6907dupA
c.1185+6907dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62881418
chr2:62881418 GA
GA
 G
G
 6 a0001c0001t0001g0142
a0001c0001t0001g0146
a0001c0001t0002g0086
others(3): Show 
a0001c0001t0001g0142
a0001c0001t0001g0146
a0001c0001t0002g0086
a0001c0001t0002g0101
a0001c0007t0002g0097
a0004c0009t0001g0197
 6 HG00558.hp1
HG00558.hp2
HG01070.hp1
others(3): Show 
HG00558.hp1
HG00558.hp2
HG01070.hp1
HG01243.hp2
HG02040.hp1
HG03017.hp2
 intron_variant MODIFIER c.1185+6907delA
c.1185+6907delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62881418
chr2:62881445 A
A
 C
C
 1 a0002c0002t0001g0004
a0002c0002t0001g0004
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.1185+6913A>C
c.1185+6913A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62881445
chr2:62881590 C
C
 A
A
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1185+7058C>A
c.1185+7058C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62881590
chr2:62882179 A
A
 G
G
 1 a0001c0001t0001g0183
a0001c0001t0001g0183
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1185+7647A>G
c.1185+7647A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62882179
chr2:62882301 G
G
 A
A
 1 a0001c0001t0002g0168
a0001c0001t0002g0168
 1 NA18960.hp2
NA18960.hp2
 intron_variant MODIFIER c.1185+7769G>A
c.1185+7769G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62882301
chr2:62882585 T
T
 C
C
 1 a0002c0002t0001g0004
a0002c0002t0001g0004
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.1185+8053T>C
c.1185+8053T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62882585
chr2:62882620 C
C
 T
T
 3 a0001c0001t0001g0048
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0048
a0001c0001t0001g0054
a0001c0001t0001g0055
 3 NA18962.hp1
NA18999.hp2
NA19005.hp1
NA18962.hp1
NA18999.hp2
NA19005.hp1
 intron_variant MODIFIER c.1185+8088C>T
c.1185+8088C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62882620
chr2:62882670 G
G
 A
A
 1 a0002c0002t0001g0071
a0002c0002t0001g0071
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.1185+8138G>A
c.1185+8138G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62882670
chr2:62882750 C
C
 T
T
 3 a0001c0001t0001g0138
a0001c0001t0001g0148
a0001c0001t0001g0154
a0001c0001t0001g0138
a0001c0001t0001g0148
a0001c0001t0001g0154
 3 HG00544.hp1
NA19009.hp2
NA19065.hp2
HG00544.hp1
NA19009.hp2
NA19065.hp2
 intron_variant MODIFIER c.1185+8218C>T
c.1185+8218C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62882750
chr2:62882852 A
A
 G
G
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1185+8320A>G
c.1185+8320A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62882852
chr2:62882882 CA
CA
 C
C
 196 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(193): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 196 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(193): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18972.hp1
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1185+8364delA
c.1185+8364delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62882882
chr2:62882962 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1185+8430A>G
c.1185+8430A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62882962
chr2:62883043 T
T
 C
C
 1 a0001c0001t0001g0063
a0001c0001t0001g0063
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.1185+8511T>C
c.1185+8511T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62883043
chr2:62883289 G
G
 A
A
 197 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(194): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 197 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(194): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18972.hp1
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1185+8757G>A
c.1185+8757G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62883289
chr2:62883730 G
G
 A
A
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.1185+9198G>A
c.1185+9198G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62883730
chr2:62883869 G
G
 A
A
 80 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(77): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0003c0005t0001g0163
a0003c0005t0001g0164
 80 HG00099.hp1
HG00280.hp1
HG00544.hp1
others(77): Show 
HG00099.hp1
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01515.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1185+9337G>A
c.1185+9337G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62883869
chr2:62883918 C
C
 A
A
 1 a0001c0001t0001g0063
a0001c0001t0001g0063
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.1185+9386C>A
c.1185+9386C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62883918
chr2:62883944 G
G
 A
A
 1 a0001c0003t0001g0191
a0001c0003t0001g0191
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1185+9412G>A
c.1185+9412G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62883944
chr2:62884047 A
A
 G
G
 1 a0001c0001t0005g0066
a0001c0001t0005g0066
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.1185+9515A>G
c.1185+9515A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62884047
chr2:62884154 T
T
 C
C
 16 a0001c0001t0001g0126
a0001c0001t0001g0194
a0002c0002t0001g0004
others(13): Show 
a0001c0001t0001g0126
a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0004c0009t0001g0197
 16 HG00438.hp1
HG01074.hp2
HG01123.hp1
others(13): Show 
HG00438.hp1
HG01074.hp2
HG01123.hp1
HG01243.hp2
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02735.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1185+9622T>C
c.1185+9622T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62884154
chr2:62884630 A
A
 G
G
 1 a0001c0010t0001g0155
a0001c0010t0001g0155
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.1185+10098A>G
c.1185+10098A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62884630
chr2:62884735 T
T
 C
C
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1185+10203T>C
c.1185+10203T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62884735
chr2:62885345 A
A
 G
G
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.1185+10813A>G
c.1185+10813A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62885345
chr2:62885365 A
A
 G
G
 121 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(118): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 121 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(118): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp2
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18955.hp2
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18984.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19068.hp2
NA19077.hp2
NA19079.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1185+10833A>G
c.1185+10833A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62885365
chr2:62885462 A
A
 G
G
 1 a0001c0001t0002g0091
a0001c0001t0002g0091
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.1185+10930A>G
c.1185+10930A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62885462
chr2:62886000 C
C
 A
A
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.1185+11468C>A
c.1185+11468C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62886000
chr2:62886012 G
G
 A
A
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.1185+11480G>A
c.1185+11480G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62886012
chr2:62886513 A
A
 AT
AT
 18 a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0126
others(15): Show 
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0126
a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0004c0009t0001g0197
 18 HG00438.hp1
HG00642.hp1
HG01074.hp2
others(15): Show 
HG00438.hp1
HG00642.hp1
HG01074.hp2
HG01123.hp1
HG01243.hp2
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02735.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1185+11991dupT
c.1185+11991dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62886513
chr2:62886724 G
G
 A
A
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1185+12192G>A
c.1185+12192G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62886724
chr2:62886783 A
A
 G
G
 1 a0001c0001t0001g0193
a0001c0001t0001g0193
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1185+12251A>G
c.1185+12251A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62886783
chr2:62887070 C
C
 CTGTGACA
others(20): Show 
CTGTGACAGTATAATATATAATACTATA
 1 a0001c0001t0001g0179
a0001c0001t0001g0179
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.1185+12539_1185+12
others(33): Show 
c.1185+12539_1185+12540insGTGACAGTATAATATATAATACTA
TAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62887070
chr2:62887209 G
G
 A
A
 1 a0001c0001t0002g0085
a0001c0001t0002g0085
 1 NA19079.hp1
NA19079.hp1
 intron_variant MODIFIER c.1185+12677G>A
c.1185+12677G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62887209
chr2:62887375 G
G
 A
A
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.1185+12843G>A
c.1185+12843G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62887375
chr2:62887569 T
T
 G
G
 1 a0002c0002t0001g0195
a0002c0002t0001g0195
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1185+13037T>G
c.1185+13037T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62887569
chr2:62888050 C
C
 A
A
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.1185+13518C>A
c.1185+13518C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62888050
chr2:62888299 A
A
 G
G
 1 a0001c0001t0002g0083
a0001c0001t0002g0083
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.1185+13767A>G
c.1185+13767A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62888299
chr2:62888476 C
C
 T
T
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1185+13944C>T
c.1185+13944C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62888476
chr2:62888760 T
T
 A
A
 13 a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
others(10): Show 
a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
 13 HG00438.hp1
HG01074.hp2
HG01361.hp2
others(10): Show 
HG00438.hp1
HG01074.hp2
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1185+14228T>A
c.1185+14228T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62888760
chr2:62889047 C
C
 CTT
CTT
 16 a0001c0001t0001g0022
a0001c0001t0001g0025
a0001c0001t0001g0026
others(13): Show 
a0001c0001t0001g0022
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0170
a0001c0001t0002g0091
 16 HG00099.hp2
HG00280.hp2
HG00738.hp2
others(13): Show 
HG00099.hp2
HG00280.hp2
HG00738.hp2
HG01074.hp1
HG01884.hp1
HG02258.hp1
HG02922.hp1
HG02970.hp2
HG03017.hp1
HG03139.hp1
HG03239.hp1
HG03491.hp1
HG03491.hp2
HG03704.hp1
HG03927.hp2
NA19240.hp2
 intron_variant MODIFIER c.1185+14548_1185+14
others(8): Show 
c.1185+14548_1185+14549dupTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62889047
chr2:62889047 C
C
 CTTT
CTTT
 6 a0001c0001t0001g0023
a0001c0001t0001g0027
a0001c0001t0001g0028
others(3): Show 
a0001c0001t0001g0023
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0040
a0001c0001t0001g0060
a0001c0001t0001g0177
 6 HG01496.hp1
HG02015.hp1
HG03492.hp1
others(3): Show 
HG01496.hp1
HG02015.hp1
HG03492.hp1
HG04228.hp1
NA18984.hp2
NA19010.hp2
 intron_variant MODIFIER c.1185+14547_1185+14
others(9): Show 
c.1185+14547_1185+14549dupTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62889047
chr2:62889047 C
C
 CTTTT
CTTTT
 9 a0001c0001t0001g0024
a0001c0001t0001g0030
a0001c0001t0001g0034
others(6): Show 
a0001c0001t0001g0024
a0001c0001t0001g0030
a0001c0001t0001g0034
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0098
a0004c0009t0001g0197
 9 HG01175.hp1
HG01243.hp2
HG01256.hp2
others(6): Show 
HG01175.hp1
HG01243.hp2
HG01256.hp2
HG01515.hp1
HG01981.hp2
HG03490.hp1
HG03831.hp1
NA18952.hp2
NA18955.hp2
 intron_variant MODIFIER c.1185+14546_1185+14
others(10): Show 
c.1185+14546_1185+14549dupTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62889047
chr2:62889047 C
C
 CTTTTT
CTTTTT
 5 a0001c0001t0001g0124
a0001c0001t0001g0137
a0001c0001t0001g0178
others(2): Show 
a0001c0001t0001g0124
a0001c0001t0001g0137
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
 5 HG00642.hp2
HG01123.hp2
HG01167.hp1
others(2): Show 
HG00642.hp2
HG01123.hp2
HG01167.hp1
HG02293.hp2
NA19068.hp2
 intron_variant MODIFIER c.1185+14545_1185+14
others(11): Show 
c.1185+14545_1185+14549dupTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62889047
chr2:62889047 CT
CT
 C
C
 43 a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
others(40): Show 
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0050
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0187
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0007t0002g0097
a0002c0002t0001g0004
a0002c0002t0001g0195
 43 HG00438.hp2
HG00544.hp2
HG00558.hp1
others(40): Show 
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG01070.hp1
HG01071.hp2
HG01167.hp2
HG01243.hp1
HG01258.hp2
HG01346.hp2
HG02015.hp2
HG02040.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02280.hp1
HG02300.hp1
HG02559.hp2
HG02698.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG03098.hp2
HG03139.hp2
HG03540.hp1
HG03540.hp2
HG03831.hp2
NA18952.hp1
NA18960.hp1
NA18963.hp1
NA18989.hp2
NA18992.hp2
NA18999.hp2
NA19009.hp1
NA19012.hp2
NA19065.hp1
NA19068.hp1
NA19079.hp1
NA19240.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.1185+14549delT
c.1185+14549delT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62889047
chr2:62889047 CTT
CTT
 C
C
 14 a0001c0001t0001g0007
a0001c0001t0001g0045
a0001c0001t0001g0047
others(11): Show 
a0001c0001t0001g0007
a0001c0001t0001g0045
a0001c0001t0001g0047
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0068
a0001c0001t0001g0140
a0001c0001t0001g0194
a0001c0001t0002g0082
a0001c0001t0002g0104
a0001c0003t0001g0186
a0001c0003t0001g0189
a0001c0003t0001g0190
a0002c0002t0001g0071
 14 HG01074.hp2
HG01257.hp2
HG01361.hp1
others(11): Show 
HG01074.hp2
HG01257.hp2
HG01361.hp1
HG01361.hp2
HG02717.hp2
NA18906.hp1
NA18972.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19005.hp1
NA19012.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1185+14548_1185+14
others(8): Show 
c.1185+14548_1185+14549delTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62889047
chr2:62889047 CTTT
CTTT
 C
C
 52 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
others(49): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0044
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0130
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0139
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0159
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0171
a0001c0001t0001g0173
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0196
a0001c0001t0002g0143
a0001c0003t0001g0188
a0001c0006t0001g0160
a0001c0008t0001g0076
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0014
a0002c0002t0001g0125
a0002c0002t0001g0131
a0003c0005t0001g0163
a0003c0005t0001g0164
 52 HG00280.hp1
HG00438.hp1
HG00621.hp1
others(49): Show 
HG00280.hp1
HG00438.hp1
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01175.hp2
HG01257.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02071.hp1
HG02258.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02818.hp2
HG02970.hp1
HG03017.hp2
HG03130.hp1
HG03130.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03492.hp2
HG03710.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18954.hp1
NA18962.hp1
NA18963.hp2
NA18989.hp1
NA18995.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp1
NA19057.hp2
NA19065.hp2
NA19077.hp2
 intron_variant MODIFIER c.1185+14547_1185+14
others(9): Show 
c.1185+14547_1185+14549delTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62889047
chr2:62889047 CTTTT
CTTTT
 C
C
 31 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(28): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0043
a0001c0001t0001g0057
a0001c0001t0001g0127
a0001c0001t0001g0132
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0166
a0001c0001t0001g0172
a0001c0001t0001g0175
a0001c0001t0001g0183
a0001c0001t0001g0198
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0010t0001g0155
a0002c0002t0001g0010
 31 HG00099.hp1
HG00544.hp1
HG00558.hp2
others(28): Show 
HG00099.hp1
HG00544.hp1
HG00558.hp2
HG01256.hp1
HG01258.hp1
HG02040.hp2
HG02109.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02602.hp2
HG02622.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG03195.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03704.hp2
HG03710.hp1
NA18612.hp1
NA18747.hp1
NA18951.hp2
NA18960.hp2
NA18962.hp2
NA18992.hp1
NA19043.hp2
NA19057.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.1185+14546_1185+14
others(10): Show 
c.1185+14546_1185+14549delTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62889047
chr2:62889047 CTTTTTTT
others(7): Show 
CTTTTTTTTTTTTTT
 C
C
 1 a0001c0001t0001g0015
a0001c0001t0001g0015
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.1185+14536_1185+14
others(20): Show 
c.1185+14536_1185+14549delTTTTTTTTTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62889047
chr2:62889047 CTTTTTTT
others(9): Show 
CTTTTTTTTTTTTTTTT
 C
C
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1185+14534_1185+14
others(22): Show 
c.1185+14534_1185+14549delTTTTTTTTTTTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62889047
chr2:62889249 G
G
 GT
GT
 6 a0001c0001t0001g0015
a0001c0001t0001g0049
a0001c0001t0001g0050
others(3): Show 
a0001c0001t0001g0015
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
 6 HG00438.hp2
HG00621.hp2
HG02165.hp1
others(3): Show 
HG00438.hp2
HG00621.hp2
HG02165.hp1
NA18747.hp2
NA18995.hp2
NA19057.hp2
 intron_variant MODIFIER c.1185+14727dupT
c.1185+14727dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62889249
chr2:62889250 T
T
 G
G
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1185+14718T>G
c.1185+14718T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62889250
chr2:62889250 T
T
 TG
TG
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.1185+14718_1185+14
others(7): Show 
c.1185+14718_1185+14719insG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62889250
chr2:62889252 T
T
 G
G
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1185+14720T>G
c.1185+14720T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62889252
chr2:62889959 A
A
 AT
AT
 7 a0001c0001t0001g0029
a0001c0001t0001g0046
a0001c0001t0001g0050
others(4): Show 
a0001c0001t0001g0029
a0001c0001t0001g0046
a0001c0001t0001g0050
a0001c0001t0001g0053
a0001c0001t0002g0081
a0001c0001t0002g0112
a0004c0009t0001g0197
 7 HG00438.hp2
HG00621.hp2
HG01243.hp2
others(4): Show 
HG00438.hp2
HG00621.hp2
HG01243.hp2
HG02145.hp1
HG03239.hp1
NA18951.hp1
NA19009.hp1
 intron_variant MODIFIER c.1185+15447dupT
c.1185+15447dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62889959
chr2:62889959 AT
AT
 A
A
 6 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(3): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0007t0002g0097
 6 HG01070.hp1
HG02135.hp1
HG02165.hp1
others(3): Show 
HG01070.hp1
HG02135.hp1
HG02165.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1185+15447delT
c.1185+15447delT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62889959
chr2:62890147 G
G
 T
T
 1 a0001c0001t0002g0102
a0001c0001t0002g0102
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.1185+15615G>T
c.1185+15615G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62890147
chr2:62890204 G
G
 A
A
 1 a0001c0001t0002g0090
a0001c0001t0002g0090
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.1185+15672G>A
c.1185+15672G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62890204
chr2:62890227 C
C
 T
T
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1185+15695C>T
c.1185+15695C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62890227
chr2:62890715 T
T
 C
C
 3 a0001c0001t0001g0024
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0024
a0001c0001t0001g0030
a0001c0001t0001g0039
 3 HG01175.hp1
HG01256.hp2
HG03490.hp1
HG01175.hp1
HG01256.hp2
HG03490.hp1
 intron_variant MODIFIER c.1185+16183T>C
c.1185+16183T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62890715
chr2:62890908 C
C
 T
T
 2 a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0092
a0001c0001t0002g0093
 2 HG00544.hp2
NA19012.hp2
HG00544.hp2
NA19012.hp2
 intron_variant MODIFIER c.1185+16376C>T
c.1185+16376C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62890908
chr2:62890931 G
G
 T
T
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1185+16399G>T
c.1185+16399G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62890931
chr2:62891007 G
G
 A
A
 3 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
 3 HG02818.hp1
HG02886.hp2
HG03139.hp2
HG02818.hp1
HG02886.hp2
HG03139.hp2
 intron_variant MODIFIER c.1185+16475G>A
c.1185+16475G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62891007
chr2:62891134 G
G
 A
A
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.1185+16602G>A
c.1185+16602G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62891134
chr2:62891158 CA
CA
 C
C
 10 a0001c0001t0001g0126
a0001c0001t0001g0139
a0001c0001t0001g0140
others(7): Show 
a0001c0001t0001g0126
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0002g0143
 10 HG01175.hp2
HG01257.hp1
HG02040.hp2
others(7): Show 
HG01175.hp2
HG01257.hp1
HG02040.hp2
HG02135.hp1
HG02735.hp1
HG03017.hp2
NA18963.hp2
NA18992.hp1
NA18998.hp2
NA19057.hp1
 intron_variant MODIFIER c.1185+16642delA
c.1185+16642delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62891158
chr2:62891292 A
A
 G
G
 1 a0001c0001t0001g0196
a0001c0001t0001g0196
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.1185+16760A>G
c.1185+16760A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62891292
chr2:62892059 C
C
 T
T
 1 a0001c0001t0002g0176
a0001c0001t0002g0176
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.1185+17527C>T
c.1185+17527C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62892059
chr2:62892228 C
C
 T
T
 1 a0001c0001t0001g0129
a0001c0001t0001g0129
 1 NA18999.hp1
NA18999.hp1
 intron_variant MODIFIER c.1185+17696C>T
c.1185+17696C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62892228
chr2:62892626 G
G
 C
C
 1 a0001c0001t0001g0152
a0001c0001t0001g0152
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.1185+18094G>C
c.1185+18094G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62892626
chr2:62892734 G
G
 T
T
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1185+18202G>T
c.1185+18202G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62892734
chr2:62892832 T
T
 C
C
 39 a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
others(36): Show 
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
 39 HG00544.hp2
HG00558.hp1
HG00639.hp2
others(36): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp2
HG01167.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02809.hp2
HG03704.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18998.hp1
NA19012.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.1185+18300T>C
c.1185+18300T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62892832
chr2:62892838 C
C
 G
G
 1 a0001c0001t0001g0119
a0001c0001t0001g0119
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.1185+18306C>G
c.1185+18306C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62892838
chr2:62893363 A
A
 G
G
 1 a0001c0001t0001g0175
a0001c0001t0001g0175
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.1185+18831A>G
c.1185+18831A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62893363
chr2:62893371 A
A
 C
C
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1185+18839A>C
c.1185+18839A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62893371
chr2:62894044 CA
CA
 C
C
 14 a0001c0001t0001g0060
a0001c0001t0001g0139
a0002c0002t0001g0004
others(11): Show 
a0001c0001t0001g0060
a0001c0001t0001g0139
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
 14 HG00438.hp1
HG01123.hp1
HG01257.hp1
others(11): Show 
HG00438.hp1
HG01123.hp1
HG01257.hp1
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18984.hp2
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1185+19528delA
c.1185+19528delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62894044
chr2:62894250 A
A
 G
G
 1 a0001c0001t0001g0182
a0001c0001t0001g0182
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.1185+19718A>G
c.1185+19718A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62894250
chr2:62894372 T
T
 G
G
 1 a0001c0001t0002g0109
a0001c0001t0002g0109
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.1185+19840T>G
c.1185+19840T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62894372
chr2:62894919 C
C
 CAGAG
CAGAG
 2 a0001c0001t0001g0170
a0001c0001t0001g0193
a0001c0001t0001g0170
a0001c0001t0001g0193
 2 HG03491.hp1
HG04228.hp2
HG03491.hp1
HG04228.hp2
 intron_variant MODIFIER c.1185+20390_1185+20
others(10): Show 
c.1185+20390_1185+20391insGAGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62894919
chr2:62894923 A
A
 AAGAGAGA
others(1): Show 
AAGAGAGAG
 3 a0001c0001t0001g0007
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0007
a0001c0001t0001g0069
a0001c0001t0001g0070
 3 HG01361.hp1
HG01515.hp2
HG02300.hp2
HG01361.hp1
HG01515.hp2
HG02300.hp2
 intron_variant MODIFIER c.1185+20394_1185+20
others(14): Show 
c.1185+20394_1185+20395insGAGAGAGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62894923
chr2:62894923 A
A
 AAGAGAGA
others(3): Show 
AAGAGAGAGAG
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.1185+20394_1185+20
others(16): Show 
c.1185+20394_1185+20395insGAGAGAGAGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62894923
chr2:62894923 A
A
 AAGAGAGA
others(5): Show 
AAGAGAGAGAGAG
 1 a0001c0001t0001g0075
a0001c0001t0001g0075
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.1185+20394_1185+20
others(18): Show 
c.1185+20394_1185+20395insGAGAGAGAGAGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62894923
chr2:62894923 A
A
 AAGAGAGA
others(7): Show 
AAGAGAGAGAGAGAG
 2 a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0068
a0001c0001t0001g0072
 2 HG00642.hp1
homoSapiens_chm13v2.hp1
HG00642.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1185+20394_1185+20
others(20): Show 
c.1185+20394_1185+20395insGAGAGAGAGAGAGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62894923
chr2:62894923 A
A
 G
G
 3 a0001c0001t0001g0020
a0001c0001t0001g0170
a0001c0001t0001g0193
a0001c0001t0001g0020
a0001c0001t0001g0170
a0001c0001t0001g0193
 3 HG01884.hp2
HG03491.hp1
HG04228.hp2
HG01884.hp2
HG03491.hp1
HG04228.hp2
 intron_variant MODIFIER c.1185+20391A>G
c.1185+20391A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62894923
chr2:62894927 A
A
 AAG
AAG
 8 a0001c0001t0001g0025
a0001c0001t0001g0077
a0001c0001t0001g0078
others(5): Show 
a0001c0001t0001g0025
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0127
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0008t0001g0076
 8 HG00544.hp2
HG02258.hp1
HG02258.hp2
others(5): Show 
HG00544.hp2
HG02258.hp1
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA18951.hp2
NA19012.hp2
NA19043.hp1
 intron_variant MODIFIER c.1185+20423_1185+20
others(8): Show 
c.1185+20423_1185+20424dupGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62894927
chr2:62894927 A
A
 AAGAG
AAGAG
 14 a0001c0001t0001g0138
a0001c0001t0001g0194
a0002c0002t0001g0004
others(11): Show 
a0001c0001t0001g0138
a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
 14 HG00438.hp1
HG00544.hp1
HG01074.hp2
others(11): Show 
HG00438.hp1
HG00544.hp1
HG01074.hp2
HG01123.hp1
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1185+20421_1185+20
others(10): Show 
c.1185+20421_1185+20424dupGAGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62894927
chr2:62894927 A
A
 AAGAGAG
AAGAGAG
 2 a0001c0001t0001g0036
a0001c0001t0001g0133
a0001c0001t0001g0036
a0001c0001t0001g0133
 2 HG02559.hp1
HG02965.hp1
HG02559.hp1
HG02965.hp1
 intron_variant MODIFIER c.1185+20419_1185+20
others(12): Show 
c.1185+20419_1185+20424dupGAGAGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62894927
chr2:62894927 A
A
 AAGAGAGA
others(1): Show 
AAGAGAGAG
 39 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(36): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0126
a0001c0001t0001g0132
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0148
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0161
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0177
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0196
a0001c0001t0002g0143
a0001c0001t0002g0176
a0001c0010t0001g0155
a0003c0005t0001g0163
a0003c0005t0001g0164
 39 HG00099.hp1
HG00280.hp1
HG00639.hp1
others(36): Show 
HG00099.hp1
HG00280.hp1
HG00639.hp1
HG00642.hp2
HG01070.hp2
HG01071.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG02015.hp1
HG02040.hp2
HG02109.hp1
HG02735.hp1
HG02818.hp2
HG02965.hp2
HG03017.hp2
HG03130.hp2
HG03195.hp2
HG03453.hp1
HG03471.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
NA18747.hp1
NA18952.hp2
NA18955.hp2
NA18963.hp2
NA18972.hp2
NA18984.hp2
NA18998.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19065.hp2
NA19068.hp2
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.1185+20417_1185+20
others(14): Show 
c.1185+20417_1185+20424dupGAGAGAGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62894927
chr2:62894927 A
A
 AAGAGAGA
others(3): Show 
AAGAGAGAGAG
 17 a0001c0001t0001g0006
a0001c0001t0001g0123
a0001c0001t0001g0130
others(14): Show 
a0001c0001t0001g0006
a0001c0001t0001g0123
a0001c0001t0001g0130
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0141
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0169
a0001c0001t0001g0174
a0001c0001t0001g0180
 17 HG00558.hp2
HG00621.hp1
HG02071.hp1
others(14): Show 
HG00558.hp2
HG00621.hp1
HG02071.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02602.hp2
HG02622.hp1
HG02970.hp1
HG03098.hp1
HG03239.hp2
HG03471.hp2
HG03927.hp1
NA18612.hp1
NA18992.hp1
NA19005.hp2
NA19057.hp1
 intron_variant MODIFIER c.1185+20415_1185+20
others(16): Show 
c.1185+20415_1185+20424dupGAGAGAGAGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62894927
chr2:62894927 A
A
 AAGAGAGA
others(5): Show 
AAGAGAGAGAGAG
 7 a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0156
others(4): Show 
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0156
a0001c0001t0001g0162
a0001c0001t0001g0179
a0001c0001t0002g0168
a0002c0002t0001g0195
 7 HG01123.hp2
HG01167.hp1
HG02886.hp1
others(4): Show 
HG01123.hp2
HG01167.hp1
HG02886.hp1
NA18960.hp2
NA18962.hp2
NA18989.hp1
NA19079.hp2
 intron_variant MODIFIER c.1185+20413_1185+20
others(18): Show 
c.1185+20413_1185+20424dupGAGAGAGAGAGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62894927
chr2:62894927 A
A
 AAGAGAGA
others(7): Show 
AAGAGAGAGAGAGAG
 2 a0001c0001t0001g0074
a0001c0001t0001g0129
a0001c0001t0001g0074
a0001c0001t0001g0129
 2 HG02735.hp2
NA18999.hp1
HG02735.hp2
NA18999.hp1
 intron_variant MODIFIER c.1185+20411_1185+20
others(20): Show 
c.1185+20411_1185+20424dupGAGAGAGAGAGAGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62894927
chr2:62894927 A
A
 AAGAGAGA
others(9): Show 
AAGAGAGAGAGAGAGAG
 5 a0001c0003t0001g0186
a0001c0003t0001g0188
a0001c0003t0001g0189
others(2): Show 
a0001c0003t0001g0186
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
 5 HG02717.hp2
HG03130.hp1
HG03540.hp2
others(2): Show 
HG02717.hp2
HG03130.hp1
HG03540.hp2
NA18906.hp1
NA20300.hp2
 intron_variant MODIFIER c.1185+20409_1185+20
others(22): Show 
c.1185+20409_1185+20424dupGAGAGAGAGAGAGAGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62894927
chr2:62894927 A
A
 AAGAGAGA
others(11): Show 
AAGAGAGAGAGAGAGAGAG
 1 a0001c0003t0001g0187
a0001c0003t0001g0187
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.1185+20407_1185+20
others(24): Show 
c.1185+20407_1185+20424dupGAGAGAGAGAGAGAGAGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62894927
chr2:62894927 A
A
 AAGAGAGA
others(23): Show 
AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1185+20424_1185+20
others(36): Show 
c.1185+20424_1185+20425insGAGAGAGAGAGAGAGAGAGAGAGA
GAGAGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62894927
chr2:62894927 A
A
 AGAGAGAG
others(2): Show 
AGAGAGAGAG
 2 a0001c0001t0001g0043
a0001c0001t0001g0165
a0001c0001t0001g0043
a0001c0001t0001g0165
 2 HG01261.hp2
HG02809.hp1
HG01261.hp2
HG02809.hp1
 intron_variant MODIFIER c.1185+20395_1185+20
others(15): Show 
c.1185+20395_1185+20396insGAGAGAGAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62894927
chr2:62894927 A
A
 AGAGAGAG
others(4): Show 
AGAGAGAGAGAG
 1 a0001c0001t0001g0175
a0001c0001t0001g0175
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.1185+20395_1185+20
others(17): Show 
c.1185+20395_1185+20396insGAGAGAGAGAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62894927
chr2:62894927 A
A
 AGAGAGAG
others(6): Show 
AGAGAGAGAGAGAG
 1 a0001c0001t0001g0178
a0001c0001t0001g0178
 1 HG02293.hp2
HG02293.hp2
 intron_variant MODIFIER c.1185+20395_1185+20
others(19): Show 
c.1185+20395_1185+20396insGAGAGAGAGAGAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62894927
chr2:62894927 A
A
 G
G
 11 a0001c0001t0001g0007
a0001c0001t0001g0020
a0001c0001t0001g0068
others(8): Show 
a0001c0001t0001g0007
a0001c0001t0001g0020
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0170
a0001c0001t0001g0193
a0001c0006t0001g0160
 11 HG00642.hp1
HG00738.hp1
HG01261.hp1
others(8): Show 
HG00642.hp1
HG00738.hp1
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG01884.hp2
HG02300.hp2
HG02698.hp2
HG03491.hp1
HG04228.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1185+20395A>G
c.1185+20395A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62894927
chr2:62894941 G
G
 GAGAGAGA
others(1): Show 
GAGAGAGAA
 3 a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0198
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0198
 3 HG02622.hp2
HG03453.hp2
NA18906.hp2
HG02622.hp2
HG03453.hp2
NA18906.hp2
 intron_variant MODIFIER c.1185+20416_1185+20
others(14): Show 
c.1185+20416_1185+20417insAAGAGAGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62894941
chr2:62895026 C
C
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1185+20494C>T
c.1185+20494C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62895026
chr2:62895186 A
A
 G
G
 1 a0001c0001t0002g0102
a0001c0001t0002g0102
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.1185+20654A>G
c.1185+20654A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62895186
chr2:62895278 T
T
 TATC
TATC
 49 a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
others(46): Show 
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0046
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0136
a0001c0001t0001g0139
a0001c0001t0001g0142
a0001c0001t0001g0166
a0001c0001t0001g0194
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0085
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0115
a0001c0007t0002g0097
a0001c0008t0001g0076
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0071
a0002c0002t0001g0125
 49 HG00099.hp1
HG00438.hp1
HG00544.hp2
others(46): Show 
HG00099.hp1
HG00438.hp1
HG00544.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01167.hp2
HG01243.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01884.hp2
HG02015.hp2
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02602.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG03017.hp2
HG03130.hp2
HG03139.hp2
HG03704.hp1
NA18951.hp1
NA18954.hp1
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18984.hp1
NA18992.hp2
NA18995.hp1
NA18998.hp1
NA19009.hp1
NA19012.hp2
NA19043.hp1
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA20805.hp2
 intron_variant MODIFIER c.1185+20786_1185+20
others(9): Show 
c.1185+20786_1185+20788dupATC
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62895278
chr2:62895278 T
T
 TATCATC
TATCATC
 8 a0001c0001t0001g0140
a0001c0001t0002g0084
a0001c0001t0002g0086
others(5): Show 
a0001c0001t0001g0140
a0001c0001t0002g0084
a0001c0001t0002g0086
a0001c0003t0001g0186
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0013
a0002c0002t0001g0014
 8 HG01123.hp1
HG01496.hp2
HG02040.hp1
others(5): Show 
HG01123.hp1
HG01496.hp2
HG02040.hp1
HG03490.hp2
HG03492.hp2
NA18954.hp2
NA18998.hp2
NA20300.hp2
 intron_variant MODIFIER c.1185+20783_1185+20
others(12): Show 
c.1185+20783_1185+20788dupATCATC
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62895278
chr2:62895278 T
T
 TATCATCA
others(2): Show 
TATCATCATC
 2 a0001c0001t0002g0101
a0002c0002t0001g0004
a0001c0001t0002g0101
a0002c0002t0001g0004
 2 HG00558.hp1
HG03831.hp2
HG00558.hp1
HG03831.hp2
 intron_variant MODIFIER c.1185+20780_1185+20
others(15): Show 
c.1185+20780_1185+20788dupATCATCATC
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62895278
chr2:62895278 T
T
 TATCATCA
others(8): Show 
TATCATCATCATCATC
 1 a0001c0001t0001g0157
a0001c0001t0001g0157
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.1185+20774_1185+20
others(21): Show 
c.1185+20774_1185+20788dupATCATCATCATCATC
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62895278
chr2:62895278 TATC
TATC
 T
T
 20 a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0031
others(17): Show 
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0064
a0001c0001t0001g0079
a0001c0001t0001g0137
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0184
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0090
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0004t0003g0114
a0002c0002t0001g0131
 20 HG00280.hp2
HG00639.hp2
HG00738.hp2
others(17): Show 
HG00280.hp2
HG00639.hp2
HG00738.hp2
HG01074.hp1
HG01981.hp1
HG02135.hp1
HG02258.hp1
HG02559.hp2
HG02622.hp2
HG02698.hp1
HG02717.hp1
HG03017.hp1
HG03195.hp2
HG03491.hp1
HG04228.hp1
NA18612.hp2
NA18906.hp2
NA18989.hp2
NA19068.hp2
NA20300.hp1
 intron_variant MODIFIER c.1185+20786_1185+20
others(9): Show 
c.1185+20786_1185+20788delATC
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62895278
chr2:62895278 TATCATCA
others(8): Show 
TATCATCATCATCATC
 T
T
 2 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0022
a0001c0001t0001g0023
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1185+20774_1185+20
others(21): Show 
c.1185+20774_1185+20788delATCATCATCATCATC
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62895278
chr2:62895315 A
A
 C
C
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1185+20783A>C
c.1185+20783A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62895315
chr2:62895390 C
C
 T
T
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1185+20858C>T
c.1185+20858C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62895390
chr2:62895534 G
G
 A
A
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1185+21002G>A
c.1185+21002G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62895534
chr2:62895684 G
G
 A
A
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1185+21152G>A
c.1185+21152G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62895684
chr2:62895835 T
T
 G
G
 11 a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
others(8): Show 
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
 11 HG00642.hp2
HG01123.hp2
HG01167.hp1
others(8): Show 
HG00642.hp2
HG01123.hp2
HG01167.hp1
HG02015.hp1
HG02293.hp2
NA18952.hp2
NA18955.hp2
NA18984.hp2
NA18999.hp1
NA19068.hp2
NA19079.hp2
 intron_variant MODIFIER c.1185+21303T>G
c.1185+21303T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62895835
chr2:62895906 A
A
 G
G
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1185+21374A>G
c.1185+21374A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62895906
chr2:62896130 A
A
 T
T
 1 a0001c0001t0002g0110
a0001c0001t0002g0110
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.1185+21598A>T
c.1185+21598A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62896130
chr2:62896479 A
A
 G
G
 130 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(127): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0098
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 130 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(127): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp2
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02293.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18955.hp2
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18984.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19068.hp2
NA19077.hp2
NA19079.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1185+21947A>G
c.1185+21947A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62896479
chr2:62896564 A
A
 G
G
 1 a0001c0001t0001g0130
a0001c0001t0001g0130
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.1185+22032A>G
c.1185+22032A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62896564
chr2:62896981 A
A
 G
G
 1 a0001c0001t0002g0081
a0001c0001t0002g0081
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.1185+22449A>G
c.1185+22449A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62896981
chr2:62897006 A
A
 C
C
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1185+22474A>C
c.1185+22474A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62897006
chr2:62897042 C
C
 T
T
 1 a0002c0002t0001g0195
a0002c0002t0001g0195
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1185+22510C>T
c.1185+22510C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62897042
chr2:62897422 T
T
 C
C
 1 a0001c0001t0001g0165
a0001c0001t0001g0165
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.1185+22890T>C
c.1185+22890T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62897422
chr2:62897444 A
A
 G
G
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 NA18952.hp1
NA18952.hp1
 intron_variant MODIFIER c.1185+22912A>G
c.1185+22912A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62897444
chr2:62897528 T
T
 A
A
 1 a0001c0001t0005g0066
a0001c0001t0005g0066
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.1185+22996T>A
c.1185+22996T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62897528
chr2:62897693 C
C
 G
G
 2 a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0004t0003g0114
a0001c0004t0003g0115
 2 HG02280.hp2
NA20300.hp1
HG02280.hp2
NA20300.hp1
 intron_variant MODIFIER c.1185+23161C>G
c.1185+23161C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62897693
chr2:62897962 C
C
 A
A
 1 a0001c0001t0002g0080
a0001c0001t0002g0080
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.1185+23430C>A
c.1185+23430C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62897962
chr2:62898095 A
A
 G
G
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1185+23563A>G
c.1185+23563A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62898095
chr2:62898196 A
A
 G
G
 15 a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
others(12): Show 
a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0004c0009t0001g0197
 15 HG00438.hp1
HG01074.hp2
HG01123.hp1
others(12): Show 
HG00438.hp1
HG01074.hp2
HG01123.hp1
HG01243.hp2
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1185+23664A>G
c.1185+23664A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62898196
chr2:62898712 G
G
 A
A
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 NA18952.hp1
NA18952.hp1
 intron_variant MODIFIER c.1185+24180G>A
c.1185+24180G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62898712
chr2:62898797 G
G
 A
A
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.1185+24265G>A
c.1185+24265G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62898797
chr2:62898804 A
A
 G
G
 1 a0001c0001t0002g0168
a0001c0001t0002g0168
 1 NA18960.hp2
NA18960.hp2
 intron_variant MODIFIER c.1185+24272A>G
c.1185+24272A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62898804
chr2:62898961 C
C
 T
T
 1 a0002c0002t0001g0195
a0002c0002t0001g0195
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1185+24429C>T
c.1185+24429C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62898961
chr2:62899007 G
G
 T
T
 2 a0001c0001t0001g0139
a0001c0001t0001g0142
a0001c0001t0001g0139
a0001c0001t0001g0142
 2 HG01257.hp1
HG03017.hp2
HG01257.hp1
HG03017.hp2
 intron_variant MODIFIER c.1185+24475G>T
c.1185+24475G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62899007
chr2:62899018 G
G
 T
T
 1 a0001c0003t0001g0191
a0001c0003t0001g0191
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1185+24486G>T
c.1185+24486G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62899018
chr2:62899620 T
T
 C
C
 14 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(11): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
 14 HG00642.hp1
HG01261.hp1
HG01361.hp1
others(11): Show 
HG00642.hp1
HG01261.hp1
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG03130.hp1
HG03540.hp2
NA18906.hp1
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1185+25088T>C
c.1185+25088T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62899620
chr2:62899626 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1185+25094A>G
c.1185+25094A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62899626
chr2:62899813 T
T
 C
C
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1185+25281T>C
c.1185+25281T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62899813
chr2:62900673 T
T
 G
G
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.1185+26141T>G
c.1185+26141T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62900673
chr2:62900682 G
G
 GTATA
GTATA
 2 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0116
a0001c0001t0001g0117
 2 HG02818.hp1
HG03139.hp2
HG02818.hp1
HG03139.hp2
 intron_variant MODIFIER c.1185+26151_1185+26
others(10): Show 
c.1185+26151_1185+26152insATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62900682
chr2:62900682 G
G
 GTATATAT
others(15): Show 
GTATATATATATATATATATATA
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1185+26151_1185+26
others(28): Show 
c.1185+26151_1185+26152insATATATATATATATATATATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62900682
chr2:62900682 G
G
 GTATATAT
others(17): Show 
GTATATATATATATATATATATATA
 3 a0001c0001t0001g0062
a0001c0001t0001g0063
a0004c0009t0001g0197
a0001c0001t0001g0062
a0001c0001t0001g0063
a0004c0009t0001g0197
 3 HG01243.hp2
HG02109.hp2
NA19240.hp2
HG01243.hp2
HG02109.hp2
NA19240.hp2
 intron_variant MODIFIER c.1185+26151_1185+26
others(30): Show 
c.1185+26151_1185+26152insATATATATATATATATATATATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62900682
chr2:62900682 G
G
 GTATATAT
others(19): Show 
GTATATATATATATATATATATATATA
 2 a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0065
a0001c0001t0001g0067
 2 HG03139.hp1
HG03540.hp1
HG03139.hp1
HG03540.hp1
 intron_variant MODIFIER c.1185+26151_1185+26
others(32): Show 
c.1185+26151_1185+26152insATATATATATATATATATATATAT
AT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62900682
chr2:62900682 G
G
 GTATATAT
others(21): Show 
GTATATATATATATATATATATATATATA
 1 a0001c0001t0005g0066
a0001c0001t0005g0066
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.1185+26151_1185+26
others(34): Show 
c.1185+26151_1185+26152insATATATATATATATATATATATAT
ATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62900682
chr2:62900682 G
G
 GTATATAT
others(23): Show 
GTATATATATATATATATATATATATATATA
 2 a0001c0001t0001g0078
a0001c0008t0001g0076
a0001c0001t0001g0078
a0001c0008t0001g0076
 2 HG02258.hp2
NA19043.hp1
HG02258.hp2
NA19043.hp1
 intron_variant MODIFIER c.1185+26151_1185+26
others(36): Show 
c.1185+26151_1185+26152insATATATATATATATATATATATAT
ATATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62900682
chr2:62900682 G
G
 GTATATAT
others(25): Show 
GTATATATATATATATATATATATATATATATA
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1185+26151_1185+26
others(38): Show 
c.1185+26151_1185+26152insATATATATATATATATATATATAT
ATATATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62900682
chr2:62900682 G
G
 GTATATAT
others(27): Show 
GTATATATATATATATATATATATATATATATATA
 2 a0001c0001t0001g0061
a0001c0001t0001g0077
a0001c0001t0001g0061
a0001c0001t0001g0077
 2 HG02280.hp1
HG03195.hp1
HG02280.hp1
HG03195.hp1
 intron_variant MODIFIER c.1185+26151_1185+26
others(40): Show 
c.1185+26151_1185+26152insATATATATATATATATATATATAT
ATATATATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62900682
chr2:62900684 G
G
 A
A
 14 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(11): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0005g0066
a0001c0008t0001g0076
a0004c0009t0001g0197
 14 HG01243.hp2
HG02109.hp2
HG02258.hp2
others(11): Show 
HG01243.hp2
HG02109.hp2
HG02258.hp2
HG02280.hp1
HG02559.hp2
HG02717.hp1
HG02818.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03540.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.1185+26152G>A
c.1185+26152G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62900684
chr2:62900684 G
G
 GTATATAT
others(21): Show 
GTATATATATATATATATATATATATATA
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1185+26171_1185+26
others(34): Show 
c.1185+26171_1185+26172insATATATATATATATATATATATAT
ATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62900684
chr2:62900686 A
A
 G
G
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.1185+26154A>G
c.1185+26154A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62900686
chr2:62900697 T
T
 C
C
 1 a0001c0001t0002g0176
a0001c0001t0002g0176
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.1185+26165T>C
c.1185+26165T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62900697
chr2:62901485 G
G
 A
A
 1 a0001c0007t0002g0097
a0001c0007t0002g0097
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.1185+26953G>A
c.1185+26953G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62901485
chr2:62901661 TA
TA
 T
T
 35 a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
others(32): Show 
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0003t0001g0191
a0001c0007t0002g0097
 35 HG00544.hp2
HG00558.hp1
HG00639.hp2
others(32): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG03540.hp2
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18998.hp1
NA19012.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20805.hp2
 intron_variant MODIFIER c.1185+27141delA
c.1185+27141delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62901661
chr2:62902121 G
G
 A
A
 2 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0116
a0001c0001t0001g0117
 2 HG02818.hp1
HG03139.hp2
HG02818.hp1
HG03139.hp2
 intron_variant MODIFIER c.1185+27589G>A
c.1185+27589G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62902121
chr2:62902790 C
C
 T
T
 2 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0002
a0001c0001t0001g0003
 2 HG01256.hp1
HG01258.hp1
HG01256.hp1
HG01258.hp1
 intron_variant MODIFIER c.1185+28258C>T
c.1185+28258C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62902790
chr2:62903316 G
G
 T
T
 2 a0001c0001t0001g0057
a0001c0001t0001g0183
a0001c0001t0001g0057
a0001c0001t0001g0183
 2 HG02109.hp1
HG03453.hp1
HG02109.hp1
HG03453.hp1
 intron_variant MODIFIER c.1185+28784G>T
c.1185+28784G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62903316
chr2:62903468 A
A
 G
G
 2 a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0004t0003g0114
a0001c0004t0003g0115
 2 HG02280.hp2
NA20300.hp1
HG02280.hp2
NA20300.hp1
 intron_variant MODIFIER c.1185+28936A>G
c.1185+28936A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62903468
chr2:62903617 T
T
 G
G
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1185+29085T>G
c.1185+29085T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62903617
chr2:62903688 C
C
 T
T
 1 a0001c0001t0001g0169
a0001c0001t0001g0169
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.1185+29156C>T
c.1185+29156C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62903688
chr2:62903762 C
C
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1185+29230C>T
c.1185+29230C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62903762
chr2:62903785 GAGGAGA
GAGGAGA
 G
G
 95 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(92): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0034
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
 95 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(92): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19077.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1185+29274_1185+29
others(12): Show 
c.1185+29274_1185+29279delGAGAAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62903785
chr2:62904050 C
C
 CT
CT
 2 a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0062
a0001c0001t0001g0065
 2 HG03139.hp1
NA19240.hp2
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.1185+29520dupT
c.1185+29520dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62904050
chr2:62904539 C
C
 A
A
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1185+30007C>A
c.1185+30007C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62904539
chr2:62904596 G
G
 A
A
 16 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(13): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0002g0168
a0001c0006t0001g0160
a0003c0005t0001g0163
a0003c0005t0001g0164
 16 HG00099.hp1
HG00639.hp1
HG00738.hp1
others(13): Show 
HG00099.hp1
HG00639.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG03491.hp1
HG03927.hp1
NA18960.hp2
NA18972.hp2
NA18989.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.1185+30064G>A
c.1185+30064G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62904596
chr2:62904637 T
T
 G
G
 1 a0001c0001t0001g0184
a0001c0001t0001g0184
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1185+30105T>G
c.1185+30105T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62904637
chr2:62904716 C
C
 G
G
 1 a0001c0001t0001g0165
a0001c0001t0001g0165
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.1185+30184C>G
c.1185+30184C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62904716
chr2:62904847 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1185+30315A>G
c.1185+30315A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62904847
chr2:62905049 C
C
 A
A
 1 a0002c0002t0001g0125
a0002c0002t0001g0125
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.1185+30517C>A
c.1185+30517C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62905049
chr2:62905207 G
G
 C
C
 111 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(108): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 111 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(108): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp2
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18955.hp2
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18984.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19068.hp2
NA19077.hp2
NA19079.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1185+30675G>C
c.1185+30675G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62905207
chr2:62905347 G
G
 A
A
 34 a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
others(31): Show 
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0007t0002g0097
 34 HG00544.hp2
HG00558.hp1
HG00639.hp2
others(31): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18998.hp1
NA19012.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20805.hp2
 intron_variant MODIFIER c.1185+30815G>A
c.1185+30815G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62905347
chr2:62905683 G
G
 A
A
 1 a0001c0007t0002g0097
a0001c0007t0002g0097
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.1185+31151G>A
c.1185+31151G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62905683
chr2:62905714 C
C
 G
G
 1 a0001c0001t0002g0176
a0001c0001t0002g0176
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.1185+31182C>G
c.1185+31182C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62905714
chr2:62905758 A
A
 T
T
 1 a0001c0001t0001g0175
a0001c0001t0001g0175
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.1185+31226A>T
c.1185+31226A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62905758
chr2:62906008 T
T
 TA
TA
 16 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(13): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0002g0168
a0001c0006t0001g0160
a0003c0005t0001g0163
a0003c0005t0001g0164
 16 HG00099.hp1
HG00639.hp1
HG00738.hp1
others(13): Show 
HG00099.hp1
HG00639.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG03491.hp1
HG03927.hp1
NA18960.hp2
NA18972.hp2
NA18989.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.1185+31485dupA
c.1185+31485dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62906008
chr2:62906152 C
C
 CT
CT
 5 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(2): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0002g0143
a0001c0008t0001g0076
 5 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(2): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA18963.hp2
NA19043.hp1
 intron_variant MODIFIER c.1185+31635dupT
c.1185+31635dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62906152
chr2:62906271 C
C
 T
T
 1 a0001c0001t0005g0066
a0001c0001t0005g0066
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.1185+31739C>T
c.1185+31739C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62906271
chr2:62906355 A
A
 T
T
 197 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(194): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 197 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(194): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18972.hp1
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1185+31823A>T
c.1185+31823A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62906355
chr2:62906449 G
G
 C
C
 78 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(75): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0057
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
 78 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(75): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01496.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02735.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19077.hp2
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.1185+31917G>C
c.1185+31917G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62906449
chr2:62907372 T
T
 A
A
 111 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(108): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 111 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(108): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp2
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02293.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18955.hp2
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18984.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19068.hp2
NA19077.hp2
NA19079.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1185+32840T>A
c.1185+32840T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62907372
chr2:62907388 A
A
 G
G
 2 a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0004t0003g0114
a0001c0004t0003g0115
 2 HG02280.hp2
NA20300.hp1
HG02280.hp2
NA20300.hp1
 intron_variant MODIFIER c.1185+32856A>G
c.1185+32856A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62907388
chr2:62907562 C
C
 T
T
 2 a0001c0001t0001g0063
a0001c0001t0001g0067
a0001c0001t0001g0063
a0001c0001t0001g0067
 2 HG02109.hp2
HG03540.hp1
HG02109.hp2
HG03540.hp1
 intron_variant MODIFIER c.1185+33030C>T
c.1185+33030C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62907562
chr2:62907744 C
C
 A
A
 16 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(13): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0002g0168
a0001c0006t0001g0160
a0003c0005t0001g0163
a0003c0005t0001g0164
 16 HG00099.hp1
HG00639.hp1
HG00738.hp1
others(13): Show 
HG00099.hp1
HG00639.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG03491.hp1
HG03927.hp1
NA18960.hp2
NA18972.hp2
NA18989.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.1185+33212C>A
c.1185+33212C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62907744
chr2:62907948 A
A
 G
G
 1 a0001c0001t0001g0136
a0001c0001t0001g0136
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1185+33416A>G
c.1185+33416A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62907948
chr2:62907965 C
C
 T
T
 148 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(145): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 148 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(145): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18972.hp2
NA18984.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1185+33433C>T
c.1185+33433C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62907965
chr2:62908279 A
A
 C
C
 1 a0001c0001t0001g0137
a0001c0001t0001g0137
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.1185+33747A>C
c.1185+33747A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62908279
chr2:62908639 C
C
 T
T
 2 a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0171
a0001c0001t0001g0172
 2 HG01346.hp1
NA20752.hp2
HG01346.hp1
NA20752.hp2
 intron_variant MODIFIER c.1186-34079C>T
c.1186-34079C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62908639
chr2:62909049 A
A
 G
G
 1 a0001c0001t0004g0089
a0001c0001t0004g0089
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.1186-33669A>G
c.1186-33669A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62909049
chr2:62909238 G
G
 A
A
 34 a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
others(31): Show 
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0007t0002g0097
 34 HG00544.hp2
HG00558.hp1
HG00639.hp2
others(31): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18998.hp1
NA19012.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20805.hp2
 intron_variant MODIFIER c.1186-33480G>A
c.1186-33480G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62909238
chr2:62909308 G
G
 A
A
 4 a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0067
others(1): Show 
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0067
a0001c0001t0005g0066
 4 HG02109.hp2
HG02280.hp1
HG03098.hp2
others(1): Show 
HG02109.hp2
HG02280.hp1
HG03098.hp2
HG03540.hp1
 intron_variant MODIFIER c.1186-33410G>A
c.1186-33410G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62909308
chr2:62909322 A
A
 C
C
 2 a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0001g0118
a0001c0004t0001g0121
 2 HG01167.hp2
HG02809.hp2
HG01167.hp2
HG02809.hp2
 intron_variant MODIFIER c.1186-33396A>C
c.1186-33396A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62909322
chr2:62909324 A
A
 G
G
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.1186-33394A>G
c.1186-33394A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62909324
chr2:62909429 C
C
 T
T
 1 a0001c0001t0001g0159
a0001c0001t0001g0159
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1186-33289C>T
c.1186-33289C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62909429
chr2:62909432 C
C
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1186-33286C>T
c.1186-33286C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62909432
chr2:62909605 G
G
 T
T
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.1186-33113G>T
c.1186-33113G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62909605
chr2:62909819 G
G
 A
A
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1186-32899G>A
c.1186-32899G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62909819
chr2:62910152 C
C
 A
A
 2 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0016
a0001c0001t0001g0017
 2 HG03195.hp2
NA19043.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.1186-32566C>A
c.1186-32566C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62910152
chr2:62910291 T
T
 C
C
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1186-32427T>C
c.1186-32427T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62910291
chr2:62911607 G
G
 A
A
 2 a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0169
a0001c0001t0001g0170
 2 HG03491.hp1
HG03927.hp1
HG03491.hp1
HG03927.hp1
 intron_variant MODIFIER c.1186-31111G>A
c.1186-31111G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62911607
chr2:62911828 C
C
 T
T
 110 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(107): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 110 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(107): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01175.hp2
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19077.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1186-30890C>T
c.1186-30890C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62911828
chr2:62912170 T
T
 C
C
 35 a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
others(32): Show 
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0007t0002g0097
 35 HG00544.hp2
HG00558.hp1
HG00639.hp2
others(32): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG03704.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18998.hp1
NA19012.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20805.hp2
 intron_variant MODIFIER c.1186-30548T>C
c.1186-30548T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62912170
chr2:62912518 C
C
 T
T
 1 a0001c0001t0001g0130
a0001c0001t0001g0130
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.1186-30200C>T
c.1186-30200C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62912518
chr2:62912537 G
G
 A
A
 3 a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
 3 NA18972.hp1
NA19009.hp1
NA19012.hp1
NA18972.hp1
NA19009.hp1
NA19012.hp1
 intron_variant MODIFIER c.1186-30181G>A
c.1186-30181G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62912537
chr2:62912709 G
G
 A
A
 1 a0001c0001t0001g0021
a0001c0001t0001g0021
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.1186-30009G>A
c.1186-30009G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62912709
chr2:62913024 C
C
 T
T
 1 a0002c0002t0001g0013
a0002c0002t0001g0013
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.1186-29694C>T
c.1186-29694C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62913024
chr2:62913351 G
G
 C
C
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.1186-29367G>C
c.1186-29367G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62913351
chr2:62914114 T
T
 A
A
 2 a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0119
a0001c0001t0001g0120
 2 HG02922.hp1
HG02970.hp2
HG02922.hp1
HG02970.hp2
 intron_variant MODIFIER c.1186-28604T>A
c.1186-28604T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62914114
chr2:62914385 G
G
 A
A
 2 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0116
a0001c0001t0001g0117
 2 HG02818.hp1
HG03139.hp2
HG02818.hp1
HG03139.hp2
 intron_variant MODIFIER c.1186-28333G>A
c.1186-28333G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62914385
chr2:62914795 TA
TA
 T
T
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.1186-27920delA
c.1186-27920delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62914795
chr2:62914955 G
G
 T
T
 15 a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
others(12): Show 
a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0004c0009t0001g0197
 15 HG00438.hp1
HG01074.hp2
HG01123.hp1
others(12): Show 
HG00438.hp1
HG01074.hp2
HG01123.hp1
HG01243.hp2
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1186-27763G>T
c.1186-27763G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62914955
chr2:62914992 C
C
 A
A
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1186-27726C>A
c.1186-27726C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62914992
chr2:62915014 T
T
 C
C
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1186-27704T>C
c.1186-27704T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62915014
chr2:62915710 TA
TA
 T
T
 73 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(70): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0074
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0193
a0001c0001t0001g0196
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0006t0001g0160
a0001c0010t0001g0155
a0003c0005t0001g0163
a0003c0005t0001g0164
 73 HG00099.hp1
HG00280.hp1
HG00544.hp1
others(70): Show 
HG00099.hp1
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp2
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02293.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18951.hp2
NA18952.hp2
NA18955.hp2
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18984.hp2
NA18989.hp1
NA18992.hp1
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19079.hp2
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.1186-27000delA
c.1186-27000delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62915710
chr2:62915719 T
T
 A
A
 15 a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
others(12): Show 
a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0004c0009t0001g0197
 15 HG00438.hp1
HG01074.hp2
HG01123.hp1
others(12): Show 
HG00438.hp1
HG01074.hp2
HG01123.hp1
HG01243.hp2
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1186-26999T>A
c.1186-26999T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62915719
chr2:62915729 A
A
 G
G
 107 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(104): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 107 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(104): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp2
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18955.hp2
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18984.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19068.hp2
NA19077.hp2
NA19079.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1186-26989A>G
c.1186-26989A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62915729
chr2:62915792 G
G
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1186-26926G>T
c.1186-26926G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62915792
chr2:62916230 G
G
 A
A
 1 a0001c0001t0001g0196
a0001c0001t0001g0196
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.1186-26488G>A
c.1186-26488G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62916230
chr2:62916240 T
T
 C
C
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.1186-26478T>C
c.1186-26478T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62916240
chr2:62916799 A
A
 G
G
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1186-25919A>G
c.1186-25919A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62916799
chr2:62917049 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1186-25669A>G
c.1186-25669A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62917049
chr2:62917068 C
C
 G
G
 10 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(7): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
a0001c0001t0005g0066
 10 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(7): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02818.hp1
HG02886.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.1186-25650C>G
c.1186-25650C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62917068
chr2:62917170 A
A
 G
G
 107 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(104): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 107 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(104): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp2
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18955.hp2
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18984.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19068.hp2
NA19077.hp2
NA19079.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1186-25548A>G
c.1186-25548A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62917170
chr2:62917441 C
C
 T
T
 1 a0001c0001t0001g0193
a0001c0001t0001g0193
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1186-25277C>T
c.1186-25277C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62917441
chr2:62917473 C
C
 T
T
 1 a0001c0004t0003g0115
a0001c0004t0003g0115
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1186-25245C>T
c.1186-25245C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62917473
chr2:62917560 T
T
 C
C
 14 a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
others(11): Show 
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0004c0009t0001g0197
 14 HG00438.hp1
HG01123.hp1
HG01243.hp2
others(11): Show 
HG00438.hp1
HG01123.hp1
HG01243.hp2
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1186-25158T>C
c.1186-25158T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62917560
chr2:62917854 T
T
 A
A
 1 a0001c0001t0001g0136
a0001c0001t0001g0136
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1186-24864T>A
c.1186-24864T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62917854
chr2:62917860 T
T
 C
C
 1 a0001c0001t0001g0154
a0001c0001t0001g0154
 1 NA19065.hp2
NA19065.hp2
 intron_variant MODIFIER c.1186-24858T>C
c.1186-24858T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62917860
chr2:62917894 G
G
 A
A
 2 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0022
a0001c0001t0001g0023
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1186-24824G>A
c.1186-24824G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62917894
chr2:62918274 A
A
 G
G
 15 a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
others(12): Show 
a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0004c0009t0001g0197
 15 HG00438.hp1
HG01074.hp2
HG01123.hp1
others(12): Show 
HG00438.hp1
HG01074.hp2
HG01123.hp1
HG01243.hp2
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1186-24444A>G
c.1186-24444A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62918274
chr2:62919050 G
G
 A
A
 1 a0001c0001t0001g0156
a0001c0001t0001g0156
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.1186-23668G>A
c.1186-23668G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62919050
chr2:62919174 C
C
 T
T
 14 a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
others(11): Show 
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0004c0009t0001g0197
 14 HG00438.hp1
HG01123.hp1
HG01243.hp2
others(11): Show 
HG00438.hp1
HG01123.hp1
HG01243.hp2
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1186-23544C>T
c.1186-23544C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62919174
chr2:62919451 T
T
 C
C
 2 a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0001g0118
a0001c0004t0001g0121
 2 HG01167.hp2
HG02809.hp2
HG01167.hp2
HG02809.hp2
 intron_variant MODIFIER c.1186-23267T>C
c.1186-23267T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62919451
chr2:62919778 A
A
 G
G
 1 a0002c0002t0001g0125
a0002c0002t0001g0125
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.1186-22940A>G
c.1186-22940A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62919778
chr2:62919985 G
G
 T
T
 1 a0001c0001t0001g0173
a0001c0001t0001g0173
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.1186-22733G>T
c.1186-22733G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62919985
chr2:62919999 A
A
 G
G
 7 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(4): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0005g0066
 7 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(4): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.1186-22719A>G
c.1186-22719A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62919999
chr2:62920037 G
G
 A
A
 1 a0001c0001t0001g0026
a0001c0001t0001g0026
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.1186-22681G>A
c.1186-22681G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62920037
chr2:62920056 G
G
 A
A
 1 a0002c0002t0001g0195
a0002c0002t0001g0195
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1186-22662G>A
c.1186-22662G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62920056
chr2:62920061 A
A
 G
G
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.1186-22657A>G
c.1186-22657A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62920061
chr2:62920248 G
G
 C
C
 197 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(194): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 197 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(194): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18972.hp1
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1186-22470G>C
c.1186-22470G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62920248
chr2:62920442 A
A
 T
T
 1 a0001c0003t0001g0191
a0001c0003t0001g0191
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1186-22276A>T
c.1186-22276A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62920442
chr2:62920599 TAA
TAA
 T
T
 3 a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0012
 3 NA18954.hp1
NA18995.hp1
NA19077.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1186-22117_1186-22
others(8): Show 
c.1186-22117_1186-22116delAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62920599
chr2:62920662 AT
AT
 A
A
 10 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(7): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
a0001c0001t0005g0066
 10 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(7): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02818.hp1
HG02886.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.1186-22046delT
c.1186-22046delT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62920662
chr2:62920664 T
T
 A
A
 2 a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0001g0118
a0001c0004t0001g0121
 2 HG01167.hp2
HG02809.hp2
HG01167.hp2
HG02809.hp2
 intron_variant MODIFIER c.1186-22054T>A
c.1186-22054T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62920664
chr2:62920705 T
T
 C
C
 16 a0001c0001t0001g0194
a0001c0001t0002g0176
a0002c0002t0001g0004
others(13): Show 
a0001c0001t0001g0194
a0001c0001t0002g0176
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0004c0009t0001g0197
 16 HG00438.hp1
HG01074.hp2
HG01123.hp1
others(13): Show 
HG00438.hp1
HG01074.hp2
HG01123.hp1
HG01243.hp2
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03710.hp1
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1186-22013T>C
c.1186-22013T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62920705
chr2:62920797 C
C
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1186-21921C>T
c.1186-21921C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62920797
chr2:62920946 G
G
 A
A
 5 a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
others(2): Show 
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
 5 HG02717.hp2
HG03130.hp1
NA18906.hp1
others(2): Show 
HG02717.hp2
HG03130.hp1
NA18906.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.1186-21772G>A
c.1186-21772G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62920946
chr2:62921151 A
A
 G
G
 1 a0001c0001t0001g0183
a0001c0001t0001g0183
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1186-21567A>G
c.1186-21567A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62921151
chr2:62921296 A
A
 G
G
 6 a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
others(3): Show 
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0002g0168
a0003c0005t0001g0163
a0003c0005t0001g0164
 6 HG01070.hp2
HG01071.hp1
HG01261.hp2
others(3): Show 
HG01070.hp2
HG01071.hp1
HG01261.hp2
NA18960.hp2
NA18972.hp2
NA18989.hp1
 intron_variant MODIFIER c.1186-21422A>G
c.1186-21422A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62921296
chr2:62921464 G
G
 T
T
 1 a0001c0001t0001g0116
a0001c0001t0001g0116
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1186-21254G>T
c.1186-21254G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62921464
chr2:62921471 C
C
 T
T
 1 a0001c0001t0001g0162
a0001c0001t0001g0162
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.1186-21247C>T
c.1186-21247C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62921471
chr2:62921548 GA
GA
 G
G
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.1186-21160delA
c.1186-21160delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62921548
chr2:62921563 CACAA
CACAA
 C
C
 3 a0001c0001t0001g0048
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0048
a0001c0001t0001g0054
a0001c0001t0001g0055
 3 NA18962.hp1
NA18999.hp2
NA19005.hp1
NA18962.hp1
NA18999.hp2
NA19005.hp1
 intron_variant MODIFIER c.1186-21153_1186-21
others(10): Show 
c.1186-21153_1186-21150delCAAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62921563
chr2:62921899 A
A
 G
G
 2 a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0009
a0002c0002t0001g0010
 2 HG03490.hp2
HG03492.hp2
HG03490.hp2
HG03492.hp2
 intron_variant MODIFIER c.1186-20819A>G
c.1186-20819A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62921899
chr2:62922123 G
G
 A
A
 1 a0001c0001t0001g0150
a0001c0001t0001g0150
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.1186-20595G>A
c.1186-20595G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62922123
chr2:62922130 G
G
 A
A
 77 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(74): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0080
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0006t0001g0160
a0001c0010t0001g0155
a0003c0005t0001g0163
a0003c0005t0001g0164
 77 HG00099.hp1
HG00280.hp1
HG00544.hp1
others(74): Show 
HG00099.hp1
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01884.hp2
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02293.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02735.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03491.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18951.hp2
NA18952.hp2
NA18955.hp2
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18992.hp1
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19068.hp2
NA19079.hp2
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.1186-20588G>A
c.1186-20588G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62922130
chr2:62922309 G
G
 A
A
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.1186-20409G>A
c.1186-20409G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62922309
chr2:62922422 G
G
 A
A
 121 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(118): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 121 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(118): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp2
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18955.hp2
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18984.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19068.hp2
NA19077.hp2
NA19079.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1186-20296G>A
c.1186-20296G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62922422
chr2:62922443 A
A
 G
G
 1 a0001c0001t0001g0034
a0001c0001t0001g0034
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.1186-20275A>G
c.1186-20275A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62922443
chr2:62922647 A
A
 G
G
 10 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(7): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
a0001c0001t0005g0066
 10 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(7): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02818.hp1
HG02886.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.1186-20071A>G
c.1186-20071A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62922647
chr2:62922660 A
A
 G
G
 2 a0001c0001t0001g0139
a0001c0001t0001g0142
a0001c0001t0001g0139
a0001c0001t0001g0142
 2 HG01257.hp1
HG03017.hp2
HG01257.hp1
HG03017.hp2
 intron_variant MODIFIER c.1186-20058A>G
c.1186-20058A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62922660
chr2:62922848 G
G
 C
C
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.1186-19870G>C
c.1186-19870G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62922848
chr2:62922998 G
G
 C
C
 1 a0001c0001t0001g0149
a0001c0001t0001g0149
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.1186-19720G>C
c.1186-19720G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62922998
chr2:62923032 C
C
 T
T
 6 a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
others(3): Show 
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0002g0168
a0003c0005t0001g0163
a0003c0005t0001g0164
 6 HG01070.hp2
HG01071.hp1
HG01261.hp2
others(3): Show 
HG01070.hp2
HG01071.hp1
HG01261.hp2
NA18960.hp2
NA18972.hp2
NA18989.hp1
 intron_variant MODIFIER c.1186-19686C>T
c.1186-19686C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62923032
chr2:62923199 T
T
 C
C
 1 a0001c0001t0001g0126
a0001c0001t0001g0126
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.1186-19519T>C
c.1186-19519T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62923199
chr2:62923225 A
A
 G
G
 7 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(4): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0005g0066
 7 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(4): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.1186-19493A>G
c.1186-19493A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62923225
chr2:62923476 C
C
 T
T
 2 a0001c0001t0001g0122
a0001c0001t0002g0080
a0001c0001t0001g0122
a0001c0001t0002g0080
 2 NA18984.hp1
NA19077.hp1
NA18984.hp1
NA19077.hp1
 intron_variant MODIFIER c.1186-19242C>T
c.1186-19242C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62923476
chr2:62923882 A
A
 G
G
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1186-18836A>G
c.1186-18836A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62923882
chr2:62923932 A
A
 G
G
 11 a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
others(8): Show 
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
a0001c0001t0005g0066
 11 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(8): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02818.hp1
HG02886.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03540.hp1
NA18984.hp2
NA19240.hp2
 intron_variant MODIFIER c.1186-18786A>G
c.1186-18786A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62923932
chr2:62924004 A
A
 G
G
 1 a0001c0001t0001g0137
a0001c0001t0001g0137
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.1186-18714A>G
c.1186-18714A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62924004
chr2:62924038 A
A
 G
G
 13 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(10): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0198
a0001c0001t0005g0066
 13 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(10): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02622.hp2
HG02818.hp1
HG02886.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03453.hp2
HG03540.hp1
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.1186-18680A>G
c.1186-18680A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62924038
chr2:62924122 A
A
 G
G
 2 a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0119
a0001c0001t0001g0120
 2 HG02922.hp1
HG02970.hp2
HG02922.hp1
HG02970.hp2
 intron_variant MODIFIER c.1186-18596A>G
c.1186-18596A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62924122
chr2:62924210 C
C
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1186-18508C>G
c.1186-18508C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62924210
chr2:62924366 A
A
 G
G
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1186-18352A>G
c.1186-18352A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62924366
chr2:62924749 C
C
 T
T
 6 a0001c0001t0001g0123
a0001c0001t0001g0133
a0001c0001t0001g0134
others(3): Show 
a0001c0001t0001g0123
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0159
 6 HG02145.hp2
HG02559.hp1
HG02622.hp1
others(3): Show 
HG02145.hp2
HG02559.hp1
HG02622.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.1186-17969C>T
c.1186-17969C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62924749
chr2:62925976 C
C
 T
T
 1 a0001c0001t0001g0175
a0001c0001t0001g0175
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.1186-16742C>T
c.1186-16742C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62925976
chr2:62926120 T
T
 G
G
 10 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(7): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
a0001c0001t0005g0066
 10 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(7): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02818.hp1
HG02886.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.1186-16598T>G
c.1186-16598T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62926120
chr2:62926686 A
A
 C
C
 1 a0001c0001t0001g0171
a0001c0001t0001g0171
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.1186-16032A>C
c.1186-16032A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62926686
chr2:62926708 G
G
 T
T
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.1186-16010G>T
c.1186-16010G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62926708
chr2:62926778 A
A
 G
G
 1 a0001c0001t0002g0086
a0001c0001t0002g0086
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.1186-15940A>G
c.1186-15940A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62926778
chr2:62927077 T
T
 A
A
 15 a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
others(12): Show 
a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0004c0009t0001g0197
 15 HG00438.hp1
HG01074.hp2
HG01123.hp1
others(12): Show 
HG00438.hp1
HG01074.hp2
HG01123.hp1
HG01243.hp2
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1186-15641T>A
c.1186-15641T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62927077
chr2:62927122 A
A
 G
G
 1 a0001c0001t0001g0144
a0001c0001t0001g0144
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.1186-15596A>G
c.1186-15596A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62927122
chr2:62927598 G
G
 A
A
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.1186-15120G>A
c.1186-15120G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62927598
chr2:62927681 A
A
 G
G
 35 a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
others(32): Show 
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0007t0002g0097
 35 HG00544.hp2
HG00558.hp1
HG00639.hp2
others(32): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG03704.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18998.hp1
NA19012.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20805.hp2
 intron_variant MODIFIER c.1186-15037A>G
c.1186-15037A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62927681
chr2:62928281 C
C
 G
G
 14 a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
others(11): Show 
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0004c0009t0001g0197
 14 HG00438.hp1
HG01123.hp1
HG01243.hp2
others(11): Show 
HG00438.hp1
HG01123.hp1
HG01243.hp2
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1186-14437C>G
c.1186-14437C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62928281
chr2:62928308 C
C
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1186-14410C>T
c.1186-14410C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62928308
chr2:62928840 C
C
 CA
CA
 14 a0001c0001t0001g0034
a0001c0001t0001g0061
a0001c0001t0001g0062
others(11): Show 
a0001c0001t0001g0034
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
a0001c0001t0005g0066
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0012
 14 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(11): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02818.hp1
HG02886.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03540.hp1
HG03831.hp1
NA18954.hp1
NA18995.hp1
NA19077.hp2
NA19240.hp2
 intron_variant MODIFIER c.1186-13862dupA
c.1186-13862dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62928840
chr2:62928840 CA
CA
 C
C
 5 a0001c0001t0001g0074
a0001c0001t0001g0126
a0001c0003t0001g0188
others(2): Show 
a0001c0001t0001g0074
a0001c0001t0001g0126
a0001c0003t0001g0188
a0001c0004t0001g0118
a0001c0008t0001g0076
 5 HG01167.hp2
HG02735.hp1
HG02735.hp2
others(2): Show 
HG01167.hp2
HG02735.hp1
HG02735.hp2
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.1186-13862delA
c.1186-13862delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62928840
chr2:62929088 A
A
 C
C
 1 a0001c0001t0001g0132
a0001c0001t0001g0132
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1186-13630A>C
c.1186-13630A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62929088
chr2:62929284 A
A
 G
G
 1 a0001c0008t0001g0076
a0001c0008t0001g0076
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1186-13434A>G
c.1186-13434A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62929284
chr2:62929300 T
T
 A
A
 13 a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
others(10): Show 
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
 13 HG00438.hp1
HG01123.hp1
HG01361.hp2
others(10): Show 
HG00438.hp1
HG01123.hp1
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1186-13418T>A
c.1186-13418T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62929300
chr2:62929510 T
T
 C
C
 1 a0001c0001t0001g0166
a0001c0001t0001g0166
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.1186-13208T>C
c.1186-13208T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62929510
chr2:62929534 T
T
 G
G
 14 a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
others(11): Show 
a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
 14 HG00438.hp1
HG01074.hp2
HG01123.hp1
others(11): Show 
HG00438.hp1
HG01074.hp2
HG01123.hp1
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1186-13184T>G
c.1186-13184T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62929534
chr2:62929697 T
T
 G
G
 39 a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
others(36): Show 
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
 39 HG00544.hp2
HG00558.hp1
HG00639.hp2
others(36): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp2
HG01167.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02809.hp2
HG03704.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18998.hp1
NA19012.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.1186-13021T>G
c.1186-13021T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62929697
chr2:62929763 G
G
 A
A
 7 a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
others(4): Show 
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0192
 7 NA18952.hp1
NA18962.hp1
NA18972.hp1
others(4): Show 
NA18952.hp1
NA18962.hp1
NA18972.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
 intron_variant MODIFIER c.1186-12955G>A
c.1186-12955G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62929763
chr2:62929866 C
C
 T
T
 1 a0001c0001t0001g0144
a0001c0001t0001g0144
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.1186-12852C>T
c.1186-12852C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62929866
chr2:62929878 C
C
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1186-12840C>G
c.1186-12840C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62929878
chr2:62930072 C
C
 G
G
 3 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
 3 HG01256.hp1
HG01258.hp1
NA20805.hp1
HG01256.hp1
HG01258.hp1
NA20805.hp1
 intron_variant MODIFIER c.1186-12646C>G
c.1186-12646C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62930072
chr2:62930599 A
A
 G
G
 1 a0001c0001t0001g0006
a0001c0001t0001g0006
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.1186-12119A>G
c.1186-12119A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62930599
chr2:62930632 C
C
 T
T
 10 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(7): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
a0001c0001t0005g0066
 10 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(7): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02818.hp1
HG02886.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.1186-12086C>T
c.1186-12086C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62930632
chr2:62930795 C
C
 T
T
 1 a0001c0001t0001g0150
a0001c0001t0001g0150
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.1186-11923C>T
c.1186-11923C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62930795
chr2:62930964 G
G
 C
C
 15 a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
others(12): Show 
a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0004c0009t0001g0197
 15 HG00438.hp1
HG01074.hp2
HG01123.hp1
others(12): Show 
HG00438.hp1
HG01074.hp2
HG01123.hp1
HG01243.hp2
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1186-11754G>C
c.1186-11754G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62930964
chr2:62931648 T
T
 C
C
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1186-11070T>C
c.1186-11070T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62931648
chr2:62931712 G
G
 A
A
 1 a0001c0001t0001g0132
a0001c0001t0001g0132
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1186-11006G>A
c.1186-11006G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62931712
chr2:62931916 C
C
 T
T
 1 a0001c0001t0001g0030
a0001c0001t0001g0030
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.1186-10802C>T
c.1186-10802C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62931916
chr2:62933015 A
A
 C
C
 2 a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0146
a0001c0001t0001g0147
 2 HG00558.hp2
HG02071.hp1
HG00558.hp2
HG02071.hp1
 intron_variant MODIFIER c.1186-9703A>C
c.1186-9703A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62933015
chr2:62933090 T
T
 G
G
 1 a0001c0001t0001g0178
a0001c0001t0001g0178
 1 HG02293.hp2
HG02293.hp2
 intron_variant MODIFIER c.1186-9628T>G
c.1186-9628T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62933090
chr2:62933646 C
C
 T
T
 1 a0001c0001t0002g0081
a0001c0001t0002g0081
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.1186-9072C>T
c.1186-9072C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62933646
chr2:62933790 G
G
 A
A
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1186-8928G>A
c.1186-8928G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62933790
chr2:62933848 C
C
 G
G
 1 a0002c0002t0001g0013
a0002c0002t0001g0013
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.1186-8870C>G
c.1186-8870C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62933848
chr2:62933921 G
G
 A
A
 1 a0001c0001t0001g0035
a0001c0001t0001g0035
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.1186-8797G>A
c.1186-8797G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62933921
chr2:62934060 G
G
 A
A
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1186-8658G>A
c.1186-8658G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62934060
chr2:62934358 T
T
 G
G
 1 a0001c0001t0002g0112
a0001c0001t0002g0112
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1186-8360T>G
c.1186-8360T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62934358
chr2:62934618 G
G
 A
A
 2 a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0001g0118
a0001c0004t0001g0121
 2 HG01167.hp2
HG02809.hp2
HG01167.hp2
HG02809.hp2
 intron_variant MODIFIER c.1186-8100G>A
c.1186-8100G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62934618
chr2:62934945 G
G
 C
C
 4 a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0012
others(1): Show 
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0125
 4 HG02602.hp1
NA18954.hp1
NA18995.hp1
others(1): Show 
HG02602.hp1
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1186-7773G>C
c.1186-7773G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62934945
chr2:62935328 CA
CA
 C
C
 7 a0001c0001t0001g0044
a0001c0001t0001g0058
a0001c0001t0001g0128
others(4): Show 
a0001c0001t0001g0044
a0001c0001t0001g0058
a0001c0001t0001g0128
a0001c0001t0001g0140
a0001c0001t0002g0143
a0001c0004t0003g0114
a0001c0004t0003g0115
 7 HG02280.hp2
HG03471.hp1
NA18955.hp2
others(4): Show 
HG02280.hp2
HG03471.hp1
NA18955.hp2
NA18963.hp2
NA18998.hp2
NA19079.hp2
NA20300.hp1
 intron_variant MODIFIER c.1186-7373delA
c.1186-7373delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62935328
chr2:62935328 CAA
CAA
 C
C
 9 a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
others(6): Show 
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0077
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0008t0001g0076
a0002c0002t0001g0014
a0002c0002t0001g0125
 9 HG01496.hp2
HG02109.hp2
HG02602.hp1
others(6): Show 
HG01496.hp2
HG02109.hp2
HG02602.hp1
HG02818.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.1186-7374_1186-737
others(6): Show 
c.1186-7374_1186-7373delAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62935328
chr2:62935328 CAAA
CAAA
 C
C
 33 a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
others(30): Show 
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0090
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0007t0002g0097
 33 HG00544.hp2
HG00558.hp1
HG00639.hp2
others(30): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp2
HG01070.hp1
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18998.hp1
NA19012.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20805.hp2
 intron_variant MODIFIER c.1186-7375_1186-737
others(7): Show 
c.1186-7375_1186-7373delAAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62935328
chr2:62935344 A
A
 AAT
AAT
 6 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0130
others(3): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0130
a0001c0001t0001g0134
a0001c0001t0001g0136
a0001c0001t0001g0159
 6 HG02145.hp2
HG02622.hp1
HG02970.hp1
others(3): Show 
HG02145.hp2
HG02622.hp1
HG02970.hp1
HG03195.hp2
HG03239.hp2
NA19043.hp2
 intron_variant MODIFIER c.1186-7353_1186-735
others(6): Show 
c.1186-7353_1186-7352dupAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62935344
chr2:62935344 A
A
 AATAT
AATAT
 12 a0001c0001t0001g0042
a0001c0001t0001g0075
a0001c0001t0001g0161
others(9): Show 
a0001c0001t0001g0042
a0001c0001t0001g0075
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0002g0168
a0001c0006t0001g0160
 12 HG00099.hp1
HG00639.hp1
HG00738.hp1
others(9): Show 
HG00099.hp1
HG00639.hp1
HG00738.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG03927.hp1
HG03927.hp2
NA18960.hp2
NA18972.hp2
NA18989.hp1
NA20752.hp2
 intron_variant MODIFIER c.1186-7355_1186-735
others(8): Show 
c.1186-7355_1186-7352dupATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62935344
chr2:62935344 A
A
 AT
AT
 5 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0072
others(2): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0072
a0001c0001t0001g0135
a0001c0001t0002g0091
 5 HG00642.hp1
HG03471.hp2
HG03491.hp2
others(2): Show 
HG00642.hp1
HG03471.hp2
HG03491.hp2
HG03492.hp1
HG03704.hp1
 intron_variant MODIFIER c.1186-7374_1186-737
others(5): Show 
c.1186-7374_1186-7373insT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62935344
chr2:62935344 A
A
 T
T
 46 a0001c0001t0001g0006
a0001c0001t0001g0026
a0001c0001t0001g0039
others(43): Show 
a0001c0001t0001g0006
a0001c0001t0001g0026
a0001c0001t0001g0039
a0001c0001t0001g0043
a0001c0001t0001g0068
a0001c0001t0001g0074
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0001g0126
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0170
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0194
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0090
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0112
a0001c0001t0004g0089
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0007t0002g0097
 46 HG00099.hp2
HG00544.hp2
HG00639.hp2
others(43): Show 
HG00099.hp2
HG00544.hp2
HG00639.hp2
HG01070.hp1
HG01074.hp2
HG01167.hp2
HG01175.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02293.hp1
HG02559.hp1
HG02698.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG03453.hp2
HG03491.hp1
NA18612.hp1
NA18906.hp2
NA18951.hp1
NA18954.hp2
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA19012.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1186-7374A>T
c.1186-7374A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62935344
chr2:62935344 AAT
AAT
 A
A
 18 a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0061
others(15): Show 
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0061
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0005g0066
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0071
a0002c0002t0001g0131
 18 HG00438.hp1
HG01123.hp1
HG01361.hp2
others(15): Show 
HG00438.hp1
HG01123.hp1
HG01361.hp2
HG01884.hp1
HG02258.hp2
HG02280.hp1
HG02559.hp2
HG02717.hp1
HG02965.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1186-7353_1186-735
others(6): Show 
c.1186-7353_1186-7352delAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62935344
chr2:62935346 T
T
 A
A
 10 a0001c0001t0001g0007
a0001c0001t0001g0069
a0001c0001t0001g0070
others(7): Show 
a0001c0001t0001g0007
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0144
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0196
a0001c0001t0002g0176
 10 HG00280.hp1
HG01175.hp2
HG01361.hp1
others(7): Show 
HG00280.hp1
HG01175.hp2
HG01361.hp1
HG01515.hp2
HG02165.hp2
HG02300.hp2
HG02922.hp1
HG02970.hp2
HG03710.hp1
NA18747.hp1
 intron_variant MODIFIER c.1186-7372T>A
c.1186-7372T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62935346
chr2:62935348 T
T
 A
A
 2 a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0035
a0001c0001t0001g0036
 2 HG01884.hp1
HG02965.hp1
HG01884.hp1
HG02965.hp1
 intron_variant MODIFIER c.1186-7370T>A
c.1186-7370T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62935348
chr2:62936129 G
G
 A
A
 2 a0003c0005t0001g0163
a0003c0005t0001g0164
a0003c0005t0001g0163
a0003c0005t0001g0164
 2 HG01070.hp2
HG01071.hp1
HG01070.hp2
HG01071.hp1
 intron_variant MODIFIER c.1186-6589G>A
c.1186-6589G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62936129
chr2:62936395 C
C
 A
A
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.1186-6323C>A
c.1186-6323C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62936395
chr2:62936410 A
A
 G
G
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.1186-6308A>G
c.1186-6308A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62936410
chr2:62936565 A
A
 G
G
 1 a0001c0001t0001g0078
a0001c0001t0001g0078
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.1186-6153A>G
c.1186-6153A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62936565
chr2:62936671 G
G
 T
T
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1186-6047G>T
c.1186-6047G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62936671
chr2:62936680 TA
TA
 T
T
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.1186-6028delA
c.1186-6028delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62936680
chr2:62937304 C
C
 G
G
 1 a0001c0001t0004g0089
a0001c0001t0004g0089
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.1186-5414C>G
c.1186-5414C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62937304
chr2:62937659 C
C
 T
T
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1186-5059C>T
c.1186-5059C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62937659
chr2:62937839 A
A
 G
G
 1 a0001c0001t0001g0070
a0001c0001t0001g0070
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.1186-4879A>G
c.1186-4879A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62937839
chr2:62938019 A
A
 G
G
 1 a0001c0001t0001g0117
a0001c0001t0001g0117
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.1186-4699A>G
c.1186-4699A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62938019
chr2:62938147 A
A
 G
G
 2 a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0004t0003g0114
a0001c0004t0003g0115
 2 HG02280.hp2
NA20300.hp1
HG02280.hp2
NA20300.hp1
 intron_variant MODIFIER c.1186-4571A>G
c.1186-4571A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62938147
chr2:62938371 C
C
 T
T
 2 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0116
a0001c0001t0001g0117
 2 HG02818.hp1
HG03139.hp2
HG02818.hp1
HG03139.hp2
 intron_variant MODIFIER c.1186-4347C>T
c.1186-4347C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62938371
chr2:62938806 GA
GA
 G
G
 19 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(16): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0075
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0002g0168
a0001c0006t0001g0160
a0003c0005t0001g0163
a0003c0005t0001g0164
 19 HG00099.hp1
HG00639.hp1
HG00738.hp1
others(16): Show 
HG00099.hp1
HG00639.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG02922.hp1
HG02970.hp2
HG03491.hp1
HG03927.hp1
NA18960.hp2
NA18972.hp2
NA18989.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.1186-3902delA
c.1186-3902delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62938806
chr2:62938807 A
A
 G
G
 1 a0001c0001t0001g0132
a0001c0001t0001g0132
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1186-3911A>G
c.1186-3911A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62938807
chr2:62938895 A
A
 C
C
 2 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0116
a0001c0001t0001g0117
 2 HG02818.hp1
HG03139.hp2
HG02818.hp1
HG03139.hp2
 intron_variant MODIFIER c.1186-3823A>C
c.1186-3823A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62938895
chr2:62939063 G
G
 A
A
 4 a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
others(1): Show 
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
 4 HG01884.hp2
HG02818.hp2
HG02922.hp2
others(1): Show 
HG01884.hp2
HG02818.hp2
HG02922.hp2
HG03130.hp2
 intron_variant MODIFIER c.1186-3655G>A
c.1186-3655G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62939063
chr2:62939244 G
G
 A
A
 79 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(76): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0003c0005t0001g0163
a0003c0005t0001g0164
 79 HG00099.hp1
HG00280.hp1
HG00544.hp1
others(76): Show 
HG00099.hp1
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01515.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1186-3474G>A
c.1186-3474G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62939244
chr2:62939252 A
A
 G
G
 197 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(194): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 197 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(194): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18972.hp1
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1186-3466A>G
c.1186-3466A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62939252
chr2:62939465 G
G
 T
T
 2 a0001c0001t0002g0086
a0001c0001t0002g0101
a0001c0001t0002g0086
a0001c0001t0002g0101
 2 HG00558.hp1
HG02040.hp1
HG00558.hp1
HG02040.hp1
 intron_variant MODIFIER c.1186-3253G>T
c.1186-3253G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62939465
chr2:62939645 TATCTGAG
others(22): Show 
TATCTGAGAGAGTACCAGGGAAATGGAGCA
 T
T
 2 a0001c0001t0001g0130
a0001c0001t0001g0140
a0001c0001t0001g0130
a0001c0001t0001g0140
 2 HG03239.hp2
NA18998.hp2
HG03239.hp2
NA18998.hp2
 intron_variant MODIFIER c.1186-2990_1186-296
others(33): Show 
c.1186-2990_1186-2962delGAGCAATCTGAGAGAGTACCAGGGAA
ATG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62939645
chr2:62939916 A
A
 G
G
 14 a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
others(11): Show 
a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
 14 HG00438.hp1
HG01074.hp2
HG01123.hp1
others(11): Show 
HG00438.hp1
HG01074.hp2
HG01123.hp1
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1186-2802A>G
c.1186-2802A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62939916
chr2:62939977 G
G
 A
A
 1 a0001c0001t0001g0136
a0001c0001t0001g0136
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1186-2741G>A
c.1186-2741G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62939977
chr2:62940041 G
G
 C
C
 1 a0001c0001t0001g0048
a0001c0001t0001g0048
 1 NA18999.hp2
NA18999.hp2
 intron_variant MODIFIER c.1186-2677G>C
c.1186-2677G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62940041
chr2:62940128 A
A
 G
G
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1186-2590A>G
c.1186-2590A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62940128
chr2:62940443 A
A
 G
G
 15 a0001c0001t0001g0194
a0001c0001t0002g0176
a0002c0002t0001g0004
others(12): Show 
a0001c0001t0001g0194
a0001c0001t0002g0176
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0004c0009t0001g0197
 15 HG00438.hp1
HG01074.hp2
HG01123.hp1
others(12): Show 
HG00438.hp1
HG01074.hp2
HG01123.hp1
HG01243.hp2
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG03490.hp2
HG03492.hp2
HG03710.hp1
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1186-2275A>G
c.1186-2275A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62940443
chr2:62940452 G
G
 A
A
 2 a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0119
a0001c0001t0001g0120
 2 HG02922.hp1
HG02970.hp2
HG02922.hp1
HG02970.hp2
 intron_variant MODIFIER c.1186-2266G>A
c.1186-2266G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62940452
chr2:62940455 A
A
 G
G
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.1186-2263A>G
c.1186-2263A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62940455
chr2:62940541 CAACA
CAACA
 C
C
 3 a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
 3 NA18972.hp1
NA19009.hp1
NA19012.hp1
NA18972.hp1
NA19009.hp1
NA19012.hp1
 intron_variant MODIFIER c.1186-2172_1186-216
others(8): Show 
c.1186-2172_1186-2169delAACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62940541
chr2:62940901 G
G
 C
C
 7 a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
others(4): Show 
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0192
 7 NA18952.hp1
NA18962.hp1
NA18972.hp1
others(4): Show 
NA18952.hp1
NA18962.hp1
NA18972.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
 intron_variant MODIFIER c.1186-1817G>C
c.1186-1817G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62940901
chr2:62940916 T
T
 C
C
 1 a0002c0002t0001g0012
a0002c0002t0001g0012
 1 NA19077.hp2
NA19077.hp2
 intron_variant MODIFIER c.1186-1802T>C
c.1186-1802T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62940916
chr2:62941497 CTG
CTG
 C
C
 3 a0001c0004t0003g0114
a0001c0004t0003g0115
a0004c0009t0001g0197
a0001c0004t0003g0114
a0001c0004t0003g0115
a0004c0009t0001g0197
 3 HG01243.hp2
HG02280.hp2
NA20300.hp1
HG01243.hp2
HG02280.hp2
NA20300.hp1
 intron_variant MODIFIER c.1186-1219_1186-121
others(6): Show 
c.1186-1219_1186-1218delGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 INFO_REALIGN_3_PRIME chr2 62941497
chr2:62941729 T
T
 A
A
 1 a0001c0010t0001g0155
a0001c0010t0001g0155
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.1186-989T>A
c.1186-989T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62941729
chr2:62941776 G
G
 C
C
 1 a0002c0002t0001g0195
a0002c0002t0001g0195
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1186-942G>C
c.1186-942G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62941776
chr2:62941796 G
G
 A
A
 2 a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0181
a0001c0001t0001g0184
 2 HG03453.hp2
NA18906.hp2
HG03453.hp2
NA18906.hp2
 intron_variant MODIFIER c.1186-922G>A
c.1186-922G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62941796
chr2:62942031 C
C
 T
T
 5 a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0013
others(2): Show 
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
 5 HG01123.hp1
HG01361.hp2
HG01496.hp2
others(2): Show 
HG01123.hp1
HG01361.hp2
HG01496.hp2
HG03490.hp2
HG03492.hp2
 intron_variant MODIFIER c.1186-687C>T
c.1186-687C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62942031
chr2:62942072 A
A
 G
G
 197 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(194): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 197 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(194): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18972.hp1
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1186-646A>G
c.1186-646A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62942072
chr2:62942482 T
T
 C
C
 1 a0001c0001t0001g0126
a0001c0001t0001g0126
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.1186-236T>C
c.1186-236T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 10/22 chr2 62942482
chr2:62943034 A
A
 G
G
 1 a0001c0001t0001g0006
a0001c0001t0001g0006
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.1364+138A>G
c.1364+138A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 11/22 chr2 62943034
chr2:62943050 C
C
 T
T
 81 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(78): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0010t0001g0155
a0003c0005t0001g0163
a0003c0005t0001g0164
 81 HG00099.hp1
HG00280.hp1
HG00544.hp1
others(78): Show 
HG00099.hp1
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01515.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1364+154C>T
c.1364+154C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 11/22 chr2 62943050
chr2:62943364 G
G
 A
A
 1 a0001c0003t0001g0191
a0001c0003t0001g0191
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1365-438G>A
c.1365-438G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 11/22 chr2 62943364
chr2:62943376 C
C
 CA
CA
 17 a0001c0001t0001g0007
a0001c0001t0001g0032
a0001c0001t0001g0034
others(14): Show 
a0001c0001t0001g0007
a0001c0001t0001g0032
a0001c0001t0001g0034
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0053
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0129
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0191
 17 HG00280.hp2
HG00438.hp2
HG00642.hp1
others(14): Show 
HG00280.hp2
HG00438.hp2
HG00642.hp1
HG00738.hp2
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG03130.hp1
HG03540.hp2
HG03831.hp1
NA18999.hp1
NA19012.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.1365-402dupA
c.1365-402dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 11/22 INFO_REALIGN_3_PRIME chr2 62943376
chr2:62943376 C
C
 CAAAA
CAAAA
 9 a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
others(6): Show 
a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0125
 9 HG00438.hp1
HG01074.hp2
HG01123.hp1
others(6): Show 
HG00438.hp1
HG01074.hp2
HG01123.hp1
HG01496.hp2
HG02602.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18954.hp1
 intron_variant MODIFIER c.1365-405_1365-402d
others(6): Show 
c.1365-405_1365-402dupAAAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 11/22 INFO_REALIGN_3_PRIME chr2 62943376
chr2:62943376 CA
CA
 C
C
 92 a0001c0001t0001g0006
a0001c0001t0001g0018
a0001c0001t0001g0019
others(89): Show 
a0001c0001t0001g0006
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0193
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0007t0002g0097
a0001c0008t0001g0076
a0001c0010t0001g0155
 92 HG00280.hp1
HG00544.hp1
HG00544.hp2
others(89): Show 
HG00280.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00639.hp2
HG01070.hp1
HG01071.hp2
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01884.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02698.hp1
HG02717.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03540.hp1
HG03704.hp2
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18984.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19009.hp2
NA19010.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1365-402delA
c.1365-402delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 11/22 INFO_REALIGN_3_PRIME chr2 62943376
chr2:62943376 CAA
CAA
 C
C
 20 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(17): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0140
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0003c0005t0001g0163
a0003c0005t0001g0164
 20 HG00639.hp1
HG00738.hp1
HG01070.hp2
others(17): Show 
HG00639.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01256.hp1
HG01258.hp1
HG01346.hp1
HG02280.hp2
HG03195.hp2
HG03491.hp1
HG03927.hp1
NA18960.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18998.hp2
NA19043.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.1365-403_1365-402d
others(4): Show 
c.1365-403_1365-402delAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 11/22 INFO_REALIGN_3_PRIME chr2 62943376
chr2:62943458 G
G
 A
A
 1 a0001c0001t0001g0177
a0001c0001t0001g0177
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.1365-344G>A
c.1365-344G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 11/22 chr2 62943458
chr2:62943641 C
C
 A
A
 13 a0001c0001t0001g0074
a0001c0001t0001g0123
a0001c0001t0001g0133
others(10): Show 
a0001c0001t0001g0074
a0001c0001t0001g0123
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0159
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
 13 HG02145.hp2
HG02559.hp1
HG02622.hp1
others(10): Show 
HG02145.hp2
HG02559.hp1
HG02622.hp1
HG02717.hp2
HG02735.hp2
HG02970.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp2
HG03540.hp2
NA18906.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.1365-161C>A
c.1365-161C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 11/22 chr2 62943641
chr2:62943770 A
A
 G
G
 16 a0001c0001t0001g0194
a0001c0001t0002g0176
a0002c0002t0001g0004
others(13): Show 
a0001c0001t0001g0194
a0001c0001t0002g0176
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0004c0009t0001g0197
 16 HG00438.hp1
HG01074.hp2
HG01123.hp1
others(13): Show 
HG00438.hp1
HG01074.hp2
HG01123.hp1
HG01243.hp2
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03710.hp1
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.1365-32A>G
c.1365-32A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 11/22 chr2 62943770
chr2:62943786 C
C
 G
G
 34 a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
others(31): Show 
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0007t0002g0097
 34 HG00544.hp2
HG00558.hp1
HG00639.hp2
others(31): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18998.hp1
NA19012.hp2
NA19065.hp1
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA20805.hp2
 intron_variant MODIFIER c.1365-16C>G
c.1365-16C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 11/22 chr2 62943786
chr2:62943877 C
C
 T
T
 1 a0001c0001t0001g0149
a0001c0001t0001g0149
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.1413+27C>T
c.1413+27C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 12/22 chr2 62943877
chr2:62944379 C
C
 G
G
 2 a0001c0001t0002g0086
a0001c0001t0002g0101
a0001c0001t0002g0086
a0001c0001t0002g0101
 2 HG00558.hp1
HG02040.hp1
HG00558.hp1
HG02040.hp1
 intron_variant MODIFIER c.1413+529C>G
c.1413+529C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 12/22 chr2 62944379
chr2:62944890 T
T
 A
A
 1 a0001c0001t0001g0063
a0001c0001t0001g0063
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.1413+1040T>A
c.1413+1040T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 12/22 chr2 62944890
chr2:62944911 T
T
 A
A
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.1413+1061T>A
c.1413+1061T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 12/22 chr2 62944911
chr2:62945137 T
T
 A
A
 2 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0016
a0001c0001t0001g0017
 2 HG03195.hp2
NA19043.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.1413+1287T>A
c.1413+1287T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 12/22 chr2 62945137
chr2:62945385 A
A
 G
G
 1 a0001c0001t0002g0081
a0001c0001t0002g0081
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.1413+1535A>G
c.1413+1535A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 12/22 chr2 62945385
chr2:62945610 C
C
 G
G
 2 a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0004t0003g0114
a0001c0004t0003g0115
 2 HG02280.hp2
NA20300.hp1
HG02280.hp2
NA20300.hp1
 intron_variant MODIFIER c.1413+1760C>G
c.1413+1760C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 12/22 chr2 62945610
chr2:62945900 T
T
 C
C
 1 a0001c0001t0001g0126
a0001c0001t0001g0126
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.1413+2050T>C
c.1413+2050T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 12/22 chr2 62945900
chr2:62945915 C
C
 T
T
 1 a0001c0001t0001g0048
a0001c0001t0001g0048
 1 NA18999.hp2
NA18999.hp2
 intron_variant MODIFIER c.1413+2065C>T
c.1413+2065C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 12/22 chr2 62945915
chr2:62945995 CT
CT
 C
C
 79 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(76): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0003c0005t0001g0163
a0003c0005t0001g0164
 79 HG00099.hp1
HG00280.hp1
HG00544.hp1
others(76): Show 
HG00099.hp1
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01515.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1413+2150delT
c.1413+2150delT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 12/22 INFO_REALIGN_3_PRIME chr2 62945995
chr2:62946082 A
A
 C
C
 2 a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0119
a0001c0001t0001g0120
 2 HG02922.hp1
HG02970.hp2
HG02922.hp1
HG02970.hp2
 intron_variant MODIFIER c.1414-2178A>C
c.1414-2178A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 12/22 chr2 62946082
chr2:62946315 G
G
 A
A
 99 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(96): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 99 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(96): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01175.hp2
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19077.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1414-1945G>A
c.1414-1945G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 12/22 chr2 62946315
chr2:62946396 A
A
 G
G
 1 a0001c0001t0002g0087
a0001c0001t0002g0087
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.1414-1864A>G
c.1414-1864A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 12/22 chr2 62946396
chr2:62946813 TG
TG
 T
T
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.1414-1446delG
c.1414-1446delG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 12/22 chr2 62946813
chr2:62947006 A
A
 G
G
 1 a0001c0001t0001g0124
a0001c0001t0001g0124
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.1414-1254A>G
c.1414-1254A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 12/22 chr2 62947006
chr2:62947599 C
C
 G
G
 1 a0001c0001t0001g0177
a0001c0001t0001g0177
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.1414-661C>G
c.1414-661C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 12/22 chr2 62947599
chr2:62947804 G
G
 A
A
 2 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0025
a0001c0001t0001g0031
 2 HG01074.hp1
HG02258.hp1
HG01074.hp1
HG02258.hp1
 intron_variant MODIFIER c.1414-456G>A
c.1414-456G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 12/22 chr2 62947804
chr2:62949261 A
A
 G
G
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.2316+99A>G
c.2316+99A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62949261
chr2:62949303 T
T
 C
C
 1 a0001c0001t0002g0085
a0001c0001t0002g0085
 1 NA19079.hp1
NA19079.hp1
 intron_variant MODIFIER c.2316+141T>C
c.2316+141T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62949303
chr2:62949798 C
C
 G
G
 2 a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0181
a0001c0001t0001g0184
 2 HG03453.hp2
NA18906.hp2
HG03453.hp2
NA18906.hp2
 intron_variant MODIFIER c.2316+636C>G
c.2316+636C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62949798
chr2:62949976 T
T
 C
C
 1 a0001c0004t0001g0118
a0001c0004t0001g0118
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.2316+814T>C
c.2316+814T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62949976
chr2:62950207 T
T
 G
G
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.2316+1045T>G
c.2316+1045T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62950207
chr2:62950645 A
A
 G
G
 1 a0001c0001t0002g0102
a0001c0001t0002g0102
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.2316+1483A>G
c.2316+1483A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62950645
chr2:62950693 C
C
 CT
CT
 15 a0001c0001t0002g0176
a0002c0002t0001g0004
a0002c0002t0001g0005
others(12): Show 
a0001c0001t0002g0176
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0004c0009t0001g0197
 15 HG00438.hp1
HG01123.hp1
HG01243.hp2
others(12): Show 
HG00438.hp1
HG01123.hp1
HG01243.hp2
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03710.hp1
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.2316+1540dupT
c.2316+1540dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 INFO_REALIGN_3_PRIME chr2 62950693
chr2:62950974 C
C
 T
T
 13 a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
others(10): Show 
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
 13 HG00438.hp1
HG01123.hp1
HG01361.hp2
others(10): Show 
HG00438.hp1
HG01123.hp1
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.2316+1812C>T
c.2316+1812C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62950974
chr2:62950976 C
C
 T
T
 83 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(80): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0086
a0001c0001t0002g0101
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0003c0005t0001g0163
a0003c0005t0001g0164
 83 HG00099.hp1
HG00280.hp1
HG00544.hp1
others(80): Show 
HG00099.hp1
HG00280.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01515.hp2
HG01884.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2316+1814C>T
c.2316+1814C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62950976
chr2:62951240 C
C
 T
T
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.2316+2078C>T
c.2316+2078C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62951240
chr2:62951303 A
A
 T
T
 1 a0001c0008t0001g0076
a0001c0008t0001g0076
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.2316+2141A>T
c.2316+2141A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62951303
chr2:62951465 T
T
 C
C
 1 a0001c0001t0001g0167
a0001c0001t0001g0167
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.2316+2303T>C
c.2316+2303T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62951465
chr2:62951520 CT
CT
 C
C
 6 a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
others(3): Show 
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0116
a0001c0001t0001g0183
 6 HG01884.hp2
HG02818.hp1
HG02818.hp2
others(3): Show 
HG01884.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG03130.hp2
HG03453.hp1
 intron_variant MODIFIER c.2316+2372delT
c.2316+2372delT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 INFO_REALIGN_3_PRIME chr2 62951520
chr2:62951533 T
T
 TG
TG
 2 a0001c0001t0002g0037
a0001c0001t0002g0095
a0001c0001t0002g0037
a0001c0001t0002g0095
 2 HG01981.hp1
NA18989.hp2
HG01981.hp1
NA18989.hp2
 intron_variant MODIFIER c.2316+2371_2316+237
others(5): Show 
c.2316+2371_2316+2372insG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62951533
chr2:62951534 T
T
 G
G
 4 a0001c0001t0001g0057
a0001c0001t0001g0117
a0001c0001t0002g0037
others(1): Show 
a0001c0001t0001g0057
a0001c0001t0001g0117
a0001c0001t0002g0037
a0001c0001t0002g0095
 4 HG01981.hp1
HG02109.hp1
HG03139.hp2
others(1): Show 
HG01981.hp1
HG02109.hp1
HG03139.hp2
NA18989.hp2
 intron_variant MODIFIER c.2316+2372T>G
c.2316+2372T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62951534
chr2:62951534 T
T
 TG
TG
 44 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0038
others(41): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0038
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0178
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0088
a0001c0001t0002g0091
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0099
a0001c0001t0002g0102
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0112
a0001c0007t0002g0097
a0001c0010t0001g0155
a0002c0002t0001g0011
a0003c0005t0001g0163
a0003c0005t0001g0164
 44 HG00544.hp1
HG01070.hp1
HG01070.hp2
others(41): Show 
HG00544.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01515.hp1
HG01981.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02293.hp2
HG02622.hp1
HG02970.hp1
HG03195.hp1
HG03471.hp2
HG03704.hp1
HG03704.hp2
NA18747.hp2
NA18951.hp1
NA18954.hp2
NA18955.hp2
NA18960.hp1
NA18963.hp1
NA18972.hp2
NA18984.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA19010.hp1
NA19012.hp2
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA20805.hp2
 intron_variant MODIFIER c.2316+2384dupG
c.2316+2384dupG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 INFO_REALIGN_3_PRIME chr2 62951534
chr2:62951534 TG
TG
 T
T
 15 a0001c0001t0001g0043
a0001c0001t0001g0074
a0001c0001t0001g0133
others(12): Show 
a0001c0001t0001g0043
a0001c0001t0001g0074
a0001c0001t0001g0133
a0001c0001t0001g0162
a0001c0001t0001g0180
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0002c0002t0001g0014
a0002c0002t0001g0195
 15 HG01167.hp2
HG01496.hp2
HG02559.hp1
others(12): Show 
HG01167.hp2
HG01496.hp2
HG02559.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG03130.hp1
HG03540.hp2
NA18906.hp1
NA18989.hp1
NA19005.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.2316+2384delG
c.2316+2384delG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 INFO_REALIGN_3_PRIME chr2 62951534
chr2:62951537 G
G
 T
T
 2 a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0001g0118
a0001c0004t0001g0121
 2 HG01167.hp2
HG02809.hp2
HG01167.hp2
HG02809.hp2
 intron_variant MODIFIER c.2316+2375G>T
c.2316+2375G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62951537
chr2:62951540 G
G
 GA
GA
 2 a0001c0001t0001g0181
a0004c0009t0001g0197
a0001c0001t0001g0181
a0004c0009t0001g0197
 2 HG01243.hp2
HG03453.hp2
HG01243.hp2
HG03453.hp2
 intron_variant MODIFIER c.2316+2378_2316+237
others(5): Show 
c.2316+2378_2316+2379insA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62951540
chr2:62951541 G
G
 T
T
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.2316+2379G>T
c.2316+2379G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62951541
chr2:62951543 G
G
 T
T
 6 a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0085
others(3): Show 
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0085
a0001c0001t0002g0087
a0001c0001t0002g0100
a0001c0001t0004g0089
 6 HG02015.hp2
HG02071.hp2
HG02135.hp2
others(3): Show 
HG02015.hp2
HG02071.hp2
HG02135.hp2
NA18955.hp1
NA18998.hp1
NA19079.hp1
 intron_variant MODIFIER c.2316+2381G>T
c.2316+2381G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62951543
chr2:62951649 C
C
 T
T
 2 a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0004t0003g0114
a0001c0004t0003g0115
 2 HG02280.hp2
NA20300.hp1
HG02280.hp2
NA20300.hp1
 intron_variant MODIFIER c.2316+2487C>T
c.2316+2487C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62951649
chr2:62951814 C
C
 T
T
 2 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0002
a0001c0001t0001g0003
 2 HG01256.hp1
HG01258.hp1
HG01256.hp1
HG01258.hp1
 intron_variant MODIFIER c.2316+2652C>T
c.2316+2652C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62951814
chr2:62951941 G
G
 A
A
 120 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(117): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 120 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(117): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp2
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18955.hp2
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18984.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19068.hp2
NA19077.hp2
NA19079.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2316+2779G>A
c.2316+2779G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62951941
chr2:62952598 C
C
 A
A
 1 a0001c0001t0002g0096
a0001c0001t0002g0096
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.2317-2919C>A
c.2317-2919C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62952598
chr2:62952620 C
C
 T
T
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.2317-2897C>T
c.2317-2897C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62952620
chr2:62952643 A
A
 G
G
 2 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0016
a0001c0001t0001g0017
 2 HG03195.hp2
NA19043.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.2317-2874A>G
c.2317-2874A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62952643
chr2:62952800 C
C
 T
T
 1 a0001c0001t0001g0175
a0001c0001t0001g0175
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.2317-2717C>T
c.2317-2717C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62952800
chr2:62953217 C
C
 CA
CA
 6 a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0054
others(3): Show 
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0116
a0001c0001t0001g0192
 6 HG02818.hp1
NA18952.hp1
NA18962.hp1
others(3): Show 
HG02818.hp1
NA18952.hp1
NA18962.hp1
NA18999.hp2
NA19005.hp1
NA19009.hp1
 intron_variant MODIFIER c.2317-2276dupA
c.2317-2276dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 INFO_REALIGN_3_PRIME chr2 62953217
chr2:62953217 CA
CA
 C
C
 146 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(143): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0191
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0001c0010t0001g0155
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 146 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(143): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.2317-2276delA
c.2317-2276delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 INFO_REALIGN_3_PRIME chr2 62953217
chr2:62953268 A
A
 G
G
 2 a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0068
a0001c0001t0001g0072
 2 HG00642.hp1
homoSapiens_chm13v2.hp1
HG00642.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2317-2249A>G
c.2317-2249A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62953268
chr2:62953452 G
G
 C
C
 1 a0001c0001t0001g0055
a0001c0001t0001g0055
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.2317-2065G>C
c.2317-2065G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62953452
chr2:62953458 A
A
 C
C
 2 a0001c0001t0002g0087
a0001c0001t0002g0100
a0001c0001t0002g0087
a0001c0001t0002g0100
 2 HG02071.hp2
HG02135.hp2
HG02071.hp2
HG02135.hp2
 intron_variant MODIFIER c.2317-2059A>C
c.2317-2059A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62953458
chr2:62953678 C
C
 T
T
 1 a0001c0001t0001g0196
a0001c0001t0001g0196
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.2317-1839C>T
c.2317-1839C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62953678
chr2:62953770 T
T
 TA
TA
 13 a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
others(10): Show 
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
 13 HG00438.hp1
HG01123.hp1
HG01361.hp2
others(10): Show 
HG00438.hp1
HG01123.hp1
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.2317-1738dupA
c.2317-1738dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 INFO_REALIGN_3_PRIME chr2 62953770
chr2:62953923 C
C
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.2317-1594C>T
c.2317-1594C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62953923
chr2:62954333 A
A
 T
T
 1 a0001c0001t0001g0116
a0001c0001t0001g0116
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.2317-1184A>T
c.2317-1184A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62954333
chr2:62954546 A
A
 C
C
 14 a0001c0001t0002g0176
a0002c0002t0001g0004
a0002c0002t0001g0005
others(11): Show 
a0001c0001t0002g0176
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
 14 HG00438.hp1
HG01123.hp1
HG01361.hp2
others(11): Show 
HG00438.hp1
HG01123.hp1
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03710.hp1
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.2317-971A>C
c.2317-971A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62954546
chr2:62954974 A
A
 G
G
 1 a0001c0001t0001g0030
a0001c0001t0001g0030
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.2317-543A>G
c.2317-543A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62954974
chr2:62955328 A
A
 T
T
 1 a0001c0001t0002g0088
a0001c0001t0002g0088
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.2317-189A>T
c.2317-189A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62955328
chr2:62955476 G
G
 A
A
 1 a0001c0001t0001g0178
a0001c0001t0001g0178
 1 HG02293.hp2
HG02293.hp2
 intron_variant MODIFIER c.2317-41G>A
c.2317-41G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 chr2 62955476
chr2:62955476 G
G
 GT
GT
 14 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(11): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0165
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
 14 HG00642.hp1
HG01261.hp1
HG01261.hp2
others(11): Show 
HG00642.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
HG02717.hp2
HG03130.hp1
HG03540.hp2
NA18906.hp1
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2317-31dupT
c.2317-31dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 13/22 INFO_REALIGN_3_PRIME chr2 62955476
chr2:62955830 T
T
 A
A
 6 a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
others(3): Show 
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
 6 HG02717.hp2
HG03130.hp1
HG03540.hp2
others(3): Show 
HG02717.hp2
HG03130.hp1
HG03540.hp2
NA18906.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.2460+170T>A
c.2460+170T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62955830
chr2:62956186 A
A
 G
G
 2 a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0004t0003g0114
a0001c0004t0003g0115
 2 HG02280.hp2
NA20300.hp1
HG02280.hp2
NA20300.hp1
 intron_variant MODIFIER c.2460+526A>G
c.2460+526A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62956186
chr2:62956210 C
C
 T
T
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.2460+550C>T
c.2460+550C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62956210
chr2:62956688 G
G
 GA
GA
 7 a0001c0001t0001g0039
a0001c0001t0001g0043
a0001c0001t0001g0044
others(4): Show 
a0001c0001t0001g0039
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0182
a0001c0001t0002g0103
a0001c0004t0003g0114
a0004c0009t0001g0197
 7 HG00642.hp2
HG01175.hp1
HG01243.hp2
others(4): Show 
HG00642.hp2
HG01175.hp1
HG01243.hp2
HG02293.hp1
HG02809.hp1
HG03471.hp1
NA20300.hp1
 intron_variant MODIFIER c.2460+1048dupA
c.2460+1048dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62956688
chr2:62956688 GA
GA
 G
G
 10 a0001c0001t0001g0046
a0001c0001t0001g0054
a0001c0001t0001g0075
others(7): Show 
a0001c0001t0001g0046
a0001c0001t0001g0054
a0001c0001t0001g0075
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0165
a0001c0001t0001g0185
a0001c0001t0002g0081
 10 HG01261.hp1
HG01261.hp2
HG02818.hp1
others(7): Show 
HG01261.hp1
HG01261.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02970.hp2
HG03139.hp2
NA18951.hp1
NA19005.hp1
NA19009.hp1
 intron_variant MODIFIER c.2460+1048delA
c.2460+1048delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62956688
chr2:62956688 GAAAA
GAAAA
 G
G
 6 a0001c0001t0001g0130
a0001c0001t0001g0136
a0001c0001t0001g0148
others(3): Show 
a0001c0001t0001g0130
a0001c0001t0001g0136
a0001c0001t0001g0148
a0001c0001t0001g0169
a0001c0001t0001g0180
a0001c0001t0002g0090
 6 HG00639.hp2
HG02145.hp2
HG03239.hp2
others(3): Show 
HG00639.hp2
HG02145.hp2
HG03239.hp2
HG03927.hp1
NA19005.hp2
NA19009.hp2
 intron_variant MODIFIER c.2460+1045_2460+104
others(8): Show 
c.2460+1045_2460+1048delAAAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62956688
chr2:62956688 GAAAAA
GAAAAA
 G
G
 56 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(53): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0045
a0001c0001t0001g0057
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0168
a0001c0006t0001g0160
a0001c0010t0001g0155
a0003c0005t0001g0163
a0003c0005t0001g0164
 56 HG00099.hp1
HG00280.hp1
HG00544.hp1
others(53): Show 
HG00099.hp1
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02735.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03704.hp2
HG03710.hp2
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18960.hp2
NA18962.hp2
NA18972.hp1
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19010.hp1
NA19057.hp1
NA19065.hp1
NA19065.hp2
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.2460+1044_2460+104
others(9): Show 
c.2460+1044_2460+1048delAAAAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62956688
chr2:62956875 T
T
 C
C
 1 a0001c0001t0001g0078
a0001c0001t0001g0078
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.2460+1215T>C
c.2460+1215T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62956875
chr2:62956916 T
T
 C
C
 1 a0001c0001t0004g0089
a0001c0001t0004g0089
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.2460+1256T>C
c.2460+1256T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62956916
chr2:62957155 A
A
 G
G
 1 a0002c0002t0001g0014
a0002c0002t0001g0014
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.2460+1495A>G
c.2460+1495A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62957155
chr2:62957641 C
C
 CT
CT
 24 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0030
others(21): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0030
a0001c0001t0001g0034
a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0052
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0119
a0001c0001t0001g0165
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0087
a0001c0001t0002g0092
a0001c0001t0002g0095
a0001c0001t0002g0112
a0001c0001t0002g0143
 24 HG00544.hp2
HG01256.hp2
HG01261.hp1
others(21): Show 
HG00544.hp2
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01981.hp2
HG02135.hp2
HG02145.hp1
HG02735.hp2
HG02970.hp2
HG03490.hp1
HG03492.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18951.hp1
NA18954.hp2
NA18960.hp1
NA18963.hp1
NA18963.hp2
NA18989.hp2
NA18995.hp2
NA18998.hp1
NA19009.hp1
NA19079.hp1
 intron_variant MODIFIER c.2460+2003dupT
c.2460+2003dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62957641
chr2:62957641 C
C
 CTTTT
CTTTT
 5 a0001c0001t0001g0067
a0001c0001t0001g0078
a0001c0001t0001g0079
others(2): Show 
a0001c0001t0001g0067
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0185
a0001c0008t0001g0076
 5 HG02258.hp2
HG02717.hp1
HG02886.hp2
others(2): Show 
HG02258.hp2
HG02717.hp1
HG02886.hp2
HG03540.hp1
NA19043.hp1
 intron_variant MODIFIER c.2460+2000_2460+200
others(8): Show 
c.2460+2000_2460+2003dupTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62957641
chr2:62957641 C
C
 CTTTTT
CTTTTT
 8 a0001c0001t0001g0122
a0001c0001t0001g0126
a0001c0001t0001g0142
others(5): Show 
a0001c0001t0001g0122
a0001c0001t0001g0126
a0001c0001t0001g0142
a0001c0001t0001g0157
a0001c0001t0001g0180
a0001c0001t0002g0090
a0001c0001t0002g0110
a0003c0005t0001g0164
 8 HG00639.hp2
HG01070.hp2
HG02155.hp1
others(5): Show 
HG00639.hp2
HG01070.hp2
HG02155.hp1
HG02735.hp1
HG03017.hp2
NA19005.hp2
NA19065.hp1
NA19077.hp1
 intron_variant MODIFIER c.2460+1999_2460+200
others(9): Show 
c.2460+1999_2460+2003dupTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62957641
chr2:62957641 C
C
 CTTTTTT
CTTTTTT
 59 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(56): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0020
a0001c0001t0001g0045
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0077
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0162
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0183
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0002g0109
a0001c0006t0001g0160
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0003c0005t0001g0163
 59 HG00280.hp1
HG00438.hp1
HG00544.hp1
others(56): Show 
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00639.hp1
HG00738.hp1
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01167.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01361.hp2
HG01496.hp2
HG01884.hp2
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02165.hp2
HG02293.hp2
HG02602.hp1
HG02965.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18951.hp2
NA18954.hp1
NA18955.hp2
NA18962.hp2
NA18972.hp1
NA18984.hp2
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19068.hp2
NA19077.hp2
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.2460+1998_2460+200
others(10): Show 
c.2460+1998_2460+2003dupTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62957641
chr2:62957641 C
C
 CTTTTTTT
CTTTTTTT
 21 a0001c0001t0001g0059
a0001c0001t0001g0123
a0001c0001t0001g0128
others(18): Show 
a0001c0001t0001g0059
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0166
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0198
a0001c0001t0005g0066
a0001c0010t0001g0155
a0002c0002t0001g0011
a0002c0002t0001g0195
 21 HG00099.hp1
HG00621.hp1
HG00642.hp2
others(18): Show 
HG00099.hp1
HG00621.hp1
HG00642.hp2
HG01123.hp2
HG01175.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02886.hp1
HG02970.hp1
HG03098.hp1
HG03098.hp2
HG03471.hp2
HG03704.hp2
NA18906.hp2
NA18952.hp2
NA18972.hp2
NA18995.hp1
NA18999.hp1
NA19079.hp2
 intron_variant MODIFIER c.2460+1997_2460+200
others(11): Show 
c.2460+1997_2460+2003dupTTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62957641
chr2:62957641 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 4 a0001c0001t0001g0019
a0001c0001t0001g0065
a0001c0001t0001g0116
others(1): Show 
a0001c0001t0001g0019
a0001c0001t0001g0065
a0001c0001t0001g0116
a0001c0001t0001g0117
 4 HG02818.hp1
HG02818.hp2
HG03139.hp1
others(1): Show 
HG02818.hp1
HG02818.hp2
HG03139.hp1
HG03139.hp2
 intron_variant MODIFIER c.2460+1994_2460+200
others(14): Show 
c.2460+1994_2460+2003dupTTTTTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62957641
chr2:62957641 C
C
 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 3 a0001c0001t0001g0021
a0001c0001t0001g0062
a0001c0001t0001g0181
a0001c0001t0001g0021
a0001c0001t0001g0062
a0001c0001t0001g0181
 3 HG03130.hp2
HG03453.hp2
NA19240.hp2
HG03130.hp2
HG03453.hp2
NA19240.hp2
 intron_variant MODIFIER c.2460+1993_2460+200
others(15): Show 
c.2460+1993_2460+2003dupTTTTTTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62957641
chr2:62957641 C
C
 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.2460+1991_2460+200
others(17): Show 
c.2460+1991_2460+2003dupTTTTTTTTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62957641
chr2:62957641 C
C
 CTTTTTTT
others(15): Show 
CTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.2460+1982_2460+200
others(26): Show 
c.2460+1982_2460+2003dupTTTTTTTTTTTTTTTTTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62957641
chr2:62957641 C
C
 CTTTTTTT
others(19): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.2460+2003_2460+200
others(30): Show 
c.2460+2003_2460+2004insTTTTTTTTTTTTTTTTTTTTTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62957641
chr2:62957641 C
C
 CTTTTTTT
others(26): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.2460+2003_2460+200
others(37): Show 
c.2460+2003_2460+2004insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62957641
chr2:62957641 C
C
 CTTTTTTT
others(34): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0001t0001g0063
a0001c0001t0001g0063
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.2460+2003_2460+200
others(45): Show 
c.2460+2003_2460+2004insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62957641
chr2:62957641 CT
CT
 C
C
 10 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(7): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
 10 HG01361.hp1
HG01515.hp2
HG02698.hp2
others(7): Show 
HG01361.hp1
HG01515.hp2
HG02698.hp2
HG02717.hp2
HG03130.hp1
HG03540.hp2
NA18906.hp1
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2460+2003delT
c.2460+2003delT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62957641
chr2:62958098 G
G
 C
C
 2 a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0119
a0001c0001t0001g0120
 2 HG02922.hp1
HG02970.hp2
HG02922.hp1
HG02970.hp2
 intron_variant MODIFIER c.2460+2438G>C
c.2460+2438G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62958098
chr2:62958104 T
T
 C
C
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.2460+2444T>C
c.2460+2444T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62958104
chr2:62958348 C
C
 T
T
 1 a0001c0001t0002g0176
a0001c0001t0002g0176
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.2460+2688C>T
c.2460+2688C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62958348
chr2:62958498 C
C
 T
T
 1 a0001c0001t0002g0037
a0001c0001t0002g0037
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.2460+2838C>T
c.2460+2838C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62958498
chr2:62958527 A
A
 T
T
 1 a0001c0001t0005g0066
a0001c0001t0005g0066
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.2460+2867A>T
c.2460+2867A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62958527
chr2:62958604 T
T
 G
G
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.2460+2944T>G
c.2460+2944T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62958604
chr2:62958688 C
C
 G
G
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.2460+3028C>G
c.2460+3028C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62958688
chr2:62958716 A
A
 T
T
 1 a0001c0001t0001g0078
a0001c0001t0001g0078
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.2460+3056A>T
c.2460+3056A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62958716
chr2:62959307 G
G
 C
C
 3 a0001c0001t0001g0130
a0001c0001t0001g0175
a0001c0001t0001g0193
a0001c0001t0001g0130
a0001c0001t0001g0175
a0001c0001t0001g0193
 3 HG02165.hp2
HG03239.hp2
HG04228.hp2
HG02165.hp2
HG03239.hp2
HG04228.hp2
 intron_variant MODIFIER c.2460+3647G>C
c.2460+3647G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62959307
chr2:62959365 G
G
 A
A
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.2460+3705G>A
c.2460+3705G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62959365
chr2:62959979 T
T
 C
C
 32 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
others(29): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0098
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
 32 HG00099.hp2
HG00280.hp2
HG00642.hp2
others(29): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp2
HG00738.hp2
HG01074.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01256.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01981.hp2
HG02015.hp1
HG02258.hp1
HG02293.hp2
HG02965.hp1
HG03017.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
NA18952.hp2
NA18955.hp2
NA18984.hp2
NA18999.hp1
NA19010.hp2
NA19068.hp2
NA19079.hp2
 intron_variant MODIFIER c.2460+4319T>C
c.2460+4319T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62959979
chr2:62960183 C
C
 A
A
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.2460+4523C>A
c.2460+4523C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62960183
chr2:62960231 C
C
 T
T
 2 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0022
a0001c0001t0001g0023
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.2460+4571C>T
c.2460+4571C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62960231
chr2:62960243 C
C
 T
T
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.2460+4583C>T
c.2460+4583C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62960243
chr2:62960871 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.2460+5211A>G
c.2460+5211A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62960871
chr2:62961152 A
A
 G
G
 1 a0001c0001t0001g0166
a0001c0001t0001g0166
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.2460+5492A>G
c.2460+5492A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62961152
chr2:62961257 C
C
 A
A
 10 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(7): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
a0001c0001t0005g0066
 10 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(7): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02818.hp1
HG02886.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.2460+5597C>A
c.2460+5597C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62961257
chr2:62961398 A
A
 G
G
 2 a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0119
a0001c0001t0001g0120
 2 HG02922.hp1
HG02970.hp2
HG02922.hp1
HG02970.hp2
 intron_variant MODIFIER c.2460+5738A>G
c.2460+5738A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62961398
chr2:62962088 G
G
 A
A
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.2460+6428G>A
c.2460+6428G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62962088
chr2:62962447 G
G
 A
A
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.2460+6787G>A
c.2460+6787G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62962447
chr2:62962467 G
G
 A
A
 1 a0001c0001t0001g0063
a0001c0001t0001g0063
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.2460+6807G>A
c.2460+6807G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62962467
chr2:62962783 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.2460+7123A>G
c.2460+7123A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62962783
chr2:62963191 G
G
 A
A
 1 a0001c0001t0001g0146
a0001c0001t0001g0146
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.2460+7531G>A
c.2460+7531G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62963191
chr2:62963333 G
G
 A
A
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.2460+7673G>A
c.2460+7673G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62963333
chr2:62963419 A
A
 T
T
 1 a0001c0003t0001g0191
a0001c0003t0001g0191
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.2460+7759A>T
c.2460+7759A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62963419
chr2:62963460 T
T
 A
A
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.2460+7800T>A
c.2460+7800T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62963460
chr2:62963461 T
T
 C
C
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.2460+7801T>C
c.2460+7801T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62963461
chr2:62963668 A
A
 G
G
 1 a0001c0001t0002g0102
a0001c0001t0002g0102
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.2460+8008A>G
c.2460+8008A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62963668
chr2:62963730 A
A
 G
G
 2 a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0004t0003g0114
a0001c0004t0003g0115
 2 HG02280.hp2
NA20300.hp1
HG02280.hp2
NA20300.hp1
 intron_variant MODIFIER c.2460+8070A>G
c.2460+8070A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62963730
chr2:62963738 G
G
 C
C
 1 a0001c0001t0001g0152
a0001c0001t0001g0152
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.2460+8078G>C
c.2460+8078G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62963738
chr2:62963793 A
A
 G
G
 3 a0001c0001t0001g0028
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0028
a0001c0001t0001g0171
a0001c0001t0001g0172
 3 HG01346.hp1
HG01496.hp1
NA20752.hp2
HG01346.hp1
HG01496.hp1
NA20752.hp2
 intron_variant MODIFIER c.2460+8133A>G
c.2460+8133A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62963793
chr2:62964024 G
G
 A
A
 1 a0001c0001t0001g0123
a0001c0001t0001g0123
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.2460+8364G>A
c.2460+8364G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62964024
chr2:62964267 A
A
 C
C
 1 a0001c0001t0001g0157
a0001c0001t0001g0157
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.2460+8607A>C
c.2460+8607A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62964267
chr2:62964944 A
A
 G
G
 1 a0001c0001t0001g0031
a0001c0001t0001g0031
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.2460+9284A>G
c.2460+9284A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62964944
chr2:62965396 C
C
 T
T
 1 a0001c0001t0001g0177
a0001c0001t0001g0177
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.2460+9736C>T
c.2460+9736C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62965396
chr2:62965807 G
G
 A
A
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.2460+10147G>A
c.2460+10147G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62965807
chr2:62965846 A
A
 G
G
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.2460+10186A>G
c.2460+10186A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62965846
chr2:62966146 A
A
 G
G
 2 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0016
a0001c0001t0001g0017
 2 HG03195.hp2
NA19043.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.2460+10486A>G
c.2460+10486A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62966146
chr2:62966275 A
A
 C
C
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.2460+10615A>C
c.2460+10615A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62966275
chr2:62968044 T
T
 C
C
 84 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(81): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0057
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
 84 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(81): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02735.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19077.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2461-11144T>C
c.2461-11144T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62968044
chr2:62968668 T
T
 G
G
 1 a0001c0001t0001g0017
a0001c0001t0001g0017
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.2461-10520T>G
c.2461-10520T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62968668
chr2:62968919 G
G
 A
A
 2 a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0045
a0001c0001t0001g0046
 2 NA18972.hp1
NA19009.hp1
NA18972.hp1
NA19009.hp1
 intron_variant MODIFIER c.2461-10269G>A
c.2461-10269G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62968919
chr2:62969092 CT
CT
 C
C
 93 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(90): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
 93 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(90): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19077.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2461-10089delT
c.2461-10089delT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62969092
chr2:62969094 T
T
 C
C
 7 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(4): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0005g0066
 7 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(4): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.2461-10094T>C
c.2461-10094T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62969094
chr2:62969214 C
C
 G
G
 1 a0001c0001t0001g0031
a0001c0001t0001g0031
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.2461-9974C>G
c.2461-9974C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62969214
chr2:62969246 A
A
 G
G
 1 a0002c0002t0001g0014
a0002c0002t0001g0014
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.2461-9942A>G
c.2461-9942A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62969246
chr2:62969495 A
A
 G
G
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.2461-9693A>G
c.2461-9693A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62969495
chr2:62970133 G
G
 C
C
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.2461-9055G>C
c.2461-9055G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62970133
chr2:62970401 G
G
 T
T
 4 a0001c0001t0001g0007
a0001c0001t0001g0069
a0001c0001t0001g0070
others(1): Show 
a0001c0001t0001g0007
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0165
 4 HG01261.hp2
HG01361.hp1
HG01515.hp2
others(1): Show 
HG01261.hp2
HG01361.hp1
HG01515.hp2
HG02300.hp2
 intron_variant MODIFIER c.2461-8787G>T
c.2461-8787G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62970401
chr2:62970402 T
T
 G
G
 14 a0001c0001t0001g0194
a0001c0001t0002g0112
a0002c0002t0001g0004
others(11): Show 
a0001c0001t0001g0194
a0001c0001t0002g0112
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
 14 HG00438.hp1
HG01074.hp2
HG01123.hp1
others(11): Show 
HG00438.hp1
HG01074.hp2
HG01123.hp1
HG01361.hp2
HG01496.hp2
HG02145.hp1
HG02602.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.2461-8786T>G
c.2461-8786T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62970402
chr2:62971198 T
T
 C
C
 1 a0001c0001t0001g0162
a0001c0001t0001g0162
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.2461-7990T>C
c.2461-7990T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62971198
chr2:62971216 T
T
 C
C
 2 a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0068
a0001c0001t0001g0072
 2 HG00642.hp1
homoSapiens_chm13v2.hp1
HG00642.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2461-7972T>C
c.2461-7972T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62971216
chr2:62971348 G
G
 A
A
 1 a0001c0001t0001g0054
a0001c0001t0001g0054
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.2461-7840G>A
c.2461-7840G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62971348
chr2:62971627 A
A
 T
T
 1 a0001c0001t0002g0112
a0001c0001t0002g0112
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.2461-7561A>T
c.2461-7561A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62971627
chr2:62971719 G
G
 C
C
 1 a0001c0001t0002g0080
a0001c0001t0002g0080
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.2461-7469G>C
c.2461-7469G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62971719
chr2:62971727 A
A
 T
T
 3 a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0001g0129
 3 NA18999.hp1
NA19077.hp1
NA19079.hp2
NA18999.hp1
NA19077.hp1
NA19079.hp2
 intron_variant MODIFIER c.2461-7461A>T
c.2461-7461A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62971727
chr2:62972483 G
G
 C
C
 1 a0001c0001t0001g0123
a0001c0001t0001g0123
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.2461-6705G>C
c.2461-6705G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62972483
chr2:62972559 A
A
 T
T
 1 a0001c0001t0001g0167
a0001c0001t0001g0167
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.2461-6629A>T
c.2461-6629A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62972559
chr2:62972574 A
A
 G
G
 7 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(4): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0165
 7 HG00642.hp1
HG01261.hp2
HG01361.hp1
others(4): Show 
HG00642.hp1
HG01261.hp2
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2461-6614A>G
c.2461-6614A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62972574
chr2:62972655 A
A
 G
G
 1 a0001c0001t0001g0028
a0001c0001t0001g0028
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.2461-6533A>G
c.2461-6533A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62972655
chr2:62973159 A
A
 G
G
 161 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(158): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 161 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(158): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2461-6029A>G
c.2461-6029A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62973159
chr2:62973285 T
T
 C
C
 2 a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0001g0118
a0001c0004t0001g0121
 2 HG01167.hp2
HG02809.hp2
HG01167.hp2
HG02809.hp2
 intron_variant MODIFIER c.2461-5903T>C
c.2461-5903T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62973285
chr2:62973604 C
C
 T
T
 1 a0001c0001t0001g0049
a0001c0001t0001g0049
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.2461-5584C>T
c.2461-5584C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62973604
chr2:62973653 C
C
 A
A
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.2461-5535C>A
c.2461-5535C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62973653
chr2:62973869 C
C
 T
T
 2 a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0119
a0001c0001t0001g0120
 2 HG02922.hp1
HG02970.hp2
HG02922.hp1
HG02970.hp2
 intron_variant MODIFIER c.2461-5319C>T
c.2461-5319C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62973869
chr2:62974201 A
A
 G
G
 1 a0001c0001t0001g0177
a0001c0001t0001g0177
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.2461-4987A>G
c.2461-4987A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62974201
chr2:62974250 A
A
 G
G
 1 a0001c0003t0001g0187
a0001c0003t0001g0187
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.2461-4938A>G
c.2461-4938A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62974250
chr2:62974579 T
T
 A
A
 184 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(181): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 184 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(181): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2461-4609T>A
c.2461-4609T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62974579
chr2:62974741 G
G
 A
A
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.2461-4447G>A
c.2461-4447G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62974741
chr2:62974856 G
G
 A
A
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.2461-4332G>A
c.2461-4332G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62974856
chr2:62974961 G
G
 A
A
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.2461-4227G>A
c.2461-4227G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62974961
chr2:62974991 G
G
 A
A
 1 a0001c0001t0001g0078
a0001c0001t0001g0078
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.2461-4197G>A
c.2461-4197G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62974991
chr2:62975527 G
G
 C
C
 6 a0001c0001t0001g0015
a0001c0001t0001g0049
a0001c0001t0001g0050
others(3): Show 
a0001c0001t0001g0015
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
 6 HG00438.hp2
HG00621.hp2
HG02165.hp1
others(3): Show 
HG00438.hp2
HG00621.hp2
HG02165.hp1
NA18747.hp2
NA18995.hp2
NA19057.hp2
 intron_variant MODIFIER c.2461-3661G>C
c.2461-3661G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62975527
chr2:62975671 C
C
 CCTAG
CCTAG
 13 a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
others(10): Show 
a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
 13 HG00438.hp1
HG01074.hp2
HG01123.hp1
others(10): Show 
HG00438.hp1
HG01074.hp2
HG01123.hp1
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.2461-3516_2461-351
others(8): Show 
c.2461-3516_2461-3513dupCTAG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62975671
chr2:62975862 T
T
 C
C
 149 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(146): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0057
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 149 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(146): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18972.hp2
NA18984.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19077.hp2
NA19079.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2461-3326T>C
c.2461-3326T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62975862
chr2:62975887 T
T
 TAC
TAC
 28 a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0047
others(25): Show 
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0047
a0001c0001t0001g0055
a0001c0001t0001g0057
a0001c0001t0001g0122
a0001c0001t0001g0130
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0183
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0005g0066
a0001c0004t0001g0118
a0001c0004t0003g0114
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0012
 28 HG00099.hp1
HG00544.hp2
HG00558.hp2
others(25): Show 
HG00099.hp1
HG00544.hp2
HG00558.hp2
HG00639.hp1
HG00738.hp1
HG01167.hp2
HG01346.hp1
HG01496.hp1
HG02071.hp1
HG02109.hp1
HG02155.hp2
HG02293.hp1
HG03098.hp2
HG03239.hp2
HG03453.hp1
HG03491.hp1
HG03704.hp1
HG03704.hp2
NA18954.hp1
NA18962.hp1
NA18995.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19077.hp1
NA19077.hp2
NA20300.hp1
NA20752.hp2
 intron_variant MODIFIER c.2461-3253_2461-325
others(6): Show 
c.2461-3253_2461-3252dupCA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62975887
chr2:62975887 T
T
 TACAC
TACAC
 5 a0001c0001t0001g0161
a0001c0001t0002g0083
a0001c0001t0002g0104
others(2): Show 
a0001c0001t0001g0161
a0001c0001t0002g0083
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0168
 5 HG01257.hp2
HG01258.hp2
NA18955.hp1
others(2): Show 
HG01257.hp2
HG01258.hp2
NA18955.hp1
NA18960.hp2
NA18972.hp2
 intron_variant MODIFIER c.2461-3255_2461-325
others(8): Show 
c.2461-3255_2461-3252dupCACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62975887
chr2:62975887 T
T
 TACACAC
TACACAC
 6 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0079
others(3): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0079
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0182
 6 HG00642.hp2
HG01256.hp1
HG01258.hp1
others(3): Show 
HG00642.hp2
HG01256.hp1
HG01258.hp1
HG02717.hp1
HG02818.hp1
HG03139.hp2
 intron_variant MODIFIER c.2461-3257_2461-325
others(10): Show 
c.2461-3257_2461-3252dupCACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62975887
chr2:62975887 T
T
 TACACACA
others(3): Show 
TACACACACAC
 2 a0001c0001t0001g0078
a0001c0001t0001g0162
a0001c0001t0001g0078
a0001c0001t0001g0162
 2 HG02258.hp2
NA18989.hp1
HG02258.hp2
NA18989.hp1
 intron_variant MODIFIER c.2461-3261_2461-325
others(14): Show 
c.2461-3261_2461-3252dupCACACACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62975887
chr2:62975887 T
T
 TATACACA
others(5): Show 
TATACACACACAC
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.2461-3300_2461-329
others(16): Show 
c.2461-3300_2461-3299insTACACACACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62975887
chr2:62975887 TAC
TAC
 T
T
 53 a0001c0001t0001g0001
a0001c0001t0001g0016
a0001c0001t0001g0017
others(50): Show 
a0001c0001t0001g0001
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0029
a0001c0001t0001g0034
a0001c0001t0001g0042
a0001c0001t0001g0044
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0074
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0157
a0001c0001t0001g0159
a0001c0001t0001g0169
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0002g0081
a0001c0001t0002g0099
a0001c0001t0002g0110
a0001c0001t0002g0143
a0001c0008t0001g0076
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0131
a0003c0005t0001g0163
a0003c0005t0001g0164
 53 HG00099.hp2
HG00438.hp1
HG00621.hp1
others(50): Show 
HG00099.hp2
HG00438.hp1
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp2
HG01257.hp1
HG01361.hp2
HG01496.hp2
HG02015.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02280.hp1
HG02293.hp2
HG02602.hp2
HG02622.hp1
HG02735.hp1
HG02735.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
NA18612.hp2
NA18951.hp1
NA18952.hp2
NA18955.hp2
NA18963.hp2
NA18984.hp2
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp1
NA19068.hp2
NA19079.hp2
NA19240.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.2461-3253_2461-325
others(6): Show 
c.2461-3253_2461-3252delCA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62975887
chr2:62975887 TACAC
TACAC
 T
T
 15 a0001c0001t0001g0030
a0001c0001t0001g0038
a0001c0001t0001g0043
others(12): Show 
a0001c0001t0001g0030
a0001c0001t0001g0038
a0001c0001t0001g0043
a0001c0001t0001g0127
a0001c0001t0001g0138
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0002g0090
a0001c0001t0002g0096
a0001c0003t0001g0190
 15 HG00280.hp1
HG00544.hp1
HG00639.hp2
others(12): Show 
HG00280.hp1
HG00544.hp1
HG00639.hp2
HG01074.hp2
HG01515.hp1
HG02135.hp1
HG02698.hp1
HG02809.hp1
HG03490.hp1
HG03710.hp2
HG04228.hp2
NA18747.hp1
NA18906.hp1
NA18951.hp2
NA19065.hp2
 intron_variant MODIFIER c.2461-3255_2461-325
others(8): Show 
c.2461-3255_2461-3252delCACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62975887
chr2:62975887 TACACAC
TACACAC
 T
T
 18 a0001c0001t0001g0007
a0001c0001t0001g0024
a0001c0001t0001g0032
others(15): Show 
a0001c0001t0001g0007
a0001c0001t0001g0024
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0165
a0001c0001t0001g0181
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0191
 18 HG00280.hp2
HG00642.hp1
HG00738.hp2
others(15): Show 
HG00280.hp2
HG00642.hp1
HG00738.hp2
HG01175.hp1
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01515.hp2
HG01884.hp1
HG02300.hp2
HG02965.hp1
HG03017.hp1
HG03130.hp1
HG03453.hp2
HG03540.hp2
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2461-3257_2461-325
others(10): Show 
c.2461-3257_2461-3252delCACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62975887
chr2:62975887 TACACACA
others(1): Show 
TACACACAC
 T
T
 2 a0001c0001t0001g0073
a0001c0003t0001g0189
a0001c0001t0001g0073
a0001c0003t0001g0189
 2 HG02698.hp2
HG02717.hp2
HG02698.hp2
HG02717.hp2
 intron_variant MODIFIER c.2461-3259_2461-325
others(12): Show 
c.2461-3259_2461-3252delCACACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62975887
chr2:62975887 TACACACA
others(5): Show 
TACACACACACAC
 T
T
 6 a0001c0001t0001g0015
a0001c0001t0001g0049
a0001c0001t0001g0050
others(3): Show 
a0001c0001t0001g0015
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
 6 HG00438.hp2
HG00621.hp2
HG02165.hp1
others(3): Show 
HG00438.hp2
HG00621.hp2
HG02165.hp1
NA18747.hp2
NA18995.hp2
NA19057.hp2
 intron_variant MODIFIER c.2461-3263_2461-325
others(16): Show 
c.2461-3263_2461-3252delCACACACACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62975887
chr2:62975887 TACACACA
others(11): Show 
TACACACACACACACACAC
 T
T
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.2461-3269_2461-325
others(22): Show 
c.2461-3269_2461-3252delCACACACACACACACACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62975887
chr2:62975937 T
T
 C
C
 3 a0001c0001t0002g0091
a0001c0001t0002g0176
a0001c0007t0002g0097
a0001c0001t0002g0091
a0001c0001t0002g0176
a0001c0007t0002g0097
 3 HG01070.hp1
HG03704.hp1
HG03710.hp1
HG01070.hp1
HG03704.hp1
HG03710.hp1
 intron_variant MODIFIER c.2461-3251T>C
c.2461-3251T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62975937
chr2:62975958 A
A
 G
G
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.2461-3230A>G
c.2461-3230A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62975958
chr2:62976451 C
C
 G
G
 6 a0001c0001t0001g0015
a0001c0001t0001g0049
a0001c0001t0001g0050
others(3): Show 
a0001c0001t0001g0015
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
 6 HG00438.hp2
HG00621.hp2
HG02165.hp1
others(3): Show 
HG00438.hp2
HG00621.hp2
HG02165.hp1
NA18747.hp2
NA18995.hp2
NA19057.hp2
 intron_variant MODIFIER c.2461-2737C>G
c.2461-2737C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62976451
chr2:62976491 G
G
 A
A
 2 a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0104
a0001c0001t0002g0105
 2 HG01257.hp2
HG01258.hp2
HG01257.hp2
HG01258.hp2
 intron_variant MODIFIER c.2461-2697G>A
c.2461-2697G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62976491
chr2:62976547 T
T
 C
C
 1 a0001c0001t0001g0182
a0001c0001t0001g0182
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.2461-2641T>C
c.2461-2641T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62976547
chr2:62977317 G
G
 A
A
 4 a0001c0001t0002g0094
a0001c0001t0002g0099
a0001c0001t0002g0176
others(1): Show 
a0001c0001t0002g0094
a0001c0001t0002g0099
a0001c0001t0002g0176
a0001c0007t0002g0097
 4 HG01070.hp1
HG01346.hp2
HG03710.hp1
others(1): Show 
HG01070.hp1
HG01346.hp2
HG03710.hp1
NA20805.hp2
 intron_variant MODIFIER c.2461-1871G>A
c.2461-1871G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62977317
chr2:62977410 T
T
 G
G
 4 a0001c0001t0002g0094
a0001c0001t0002g0099
a0001c0001t0002g0176
others(1): Show 
a0001c0001t0002g0094
a0001c0001t0002g0099
a0001c0001t0002g0176
a0001c0007t0002g0097
 4 HG01070.hp1
HG01346.hp2
HG03710.hp1
others(1): Show 
HG01070.hp1
HG01346.hp2
HG03710.hp1
NA20805.hp2
 intron_variant MODIFIER c.2461-1778T>G
c.2461-1778T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62977410
chr2:62977438 C
C
 T
T
 1 a0001c0004t0003g0115
a0001c0004t0003g0115
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.2461-1750C>T
c.2461-1750C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62977438
chr2:62977476 C
C
 T
T
 92 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(89): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0003c0005t0001g0163
a0003c0005t0001g0164
 92 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(89): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19077.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2461-1712C>T
c.2461-1712C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62977476
chr2:62977524 C
C
 G
G
 2 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0116
a0001c0001t0001g0117
 2 HG02818.hp1
HG03139.hp2
HG02818.hp1
HG03139.hp2
 intron_variant MODIFIER c.2461-1664C>G
c.2461-1664C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62977524
chr2:62977686 A
A
 G
G
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.2461-1502A>G
c.2461-1502A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62977686
chr2:62977716 A
A
 G
G
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.2461-1472A>G
c.2461-1472A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62977716
chr2:62977839 G
G
 C
C
 1 a0001c0001t0001g0067
a0001c0001t0001g0067
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.2461-1349G>C
c.2461-1349G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62977839
chr2:62978201 C
C
 CT
CT
 6 a0001c0001t0001g0007
a0001c0001t0001g0035
a0001c0001t0001g0116
others(3): Show 
a0001c0001t0001g0007
a0001c0001t0001g0035
a0001c0001t0001g0116
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0002g0088
 6 HG01071.hp2
HG01361.hp1
HG01884.hp1
others(3): Show 
HG01071.hp2
HG01361.hp1
HG01884.hp1
HG02818.hp1
NA18972.hp2
NA18989.hp1
 intron_variant MODIFIER c.2461-971dupT
c.2461-971dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 INFO_REALIGN_3_PRIME chr2 62978201
chr2:62978669 A
A
 G
G
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.2461-519A>G
c.2461-519A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 14/22 chr2 62978669
chr2:62979353 C
C
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.2608+18C>G
c.2608+18C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62979353
chr2:62979355 A
A
 G
G
 6 a0001c0001t0001g0123
a0001c0001t0001g0133
a0001c0001t0001g0134
others(3): Show 
a0001c0001t0001g0123
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0159
 6 HG02145.hp2
HG02559.hp1
HG02622.hp1
others(3): Show 
HG02145.hp2
HG02559.hp1
HG02622.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.2608+20A>G
c.2608+20A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62979355
chr2:62979866 G
G
 C
C
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.2608+531G>C
c.2608+531G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62979866
chr2:62981069 C
C
 CA
CA
 7 a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
others(4): Show 
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0144
a0001c0001t0001g0148
a0002c0002t0001g0012
 7 HG01175.hp2
HG02818.hp1
HG03139.hp2
others(4): Show 
HG01175.hp2
HG02818.hp1
HG03139.hp2
NA18995.hp2
NA19009.hp2
NA19077.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2608+1755dupA
c.2608+1755dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 INFO_REALIGN_3_PRIME chr2 62981069
chr2:62981069 CA
CA
 C
C
 6 a0001c0001t0001g0035
a0001c0001t0001g0049
a0001c0001t0001g0123
others(3): Show 
a0001c0001t0001g0035
a0001c0001t0001g0049
a0001c0001t0001g0123
a0001c0001t0001g0177
a0001c0001t0002g0081
a0002c0002t0001g0010
 6 HG01884.hp1
HG02015.hp1
HG03098.hp1
others(3): Show 
HG01884.hp1
HG02015.hp1
HG03098.hp1
HG03490.hp2
NA18747.hp2
NA18951.hp1
 intron_variant MODIFIER c.2608+1755delA
c.2608+1755delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 INFO_REALIGN_3_PRIME chr2 62981069
chr2:62981325 T
T
 C
C
 97 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(94): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
 97 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(94): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02735.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18955.hp2
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18984.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19068.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2608+1990T>C
c.2608+1990T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62981325
chr2:62982179 A
A
 G
G
 14 a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
others(11): Show 
a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
 14 HG00438.hp1
HG01074.hp2
HG01123.hp1
others(11): Show 
HG00438.hp1
HG01074.hp2
HG01123.hp1
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp2
 intron_variant MODIFIER c.2608+2844A>G
c.2608+2844A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62982179
chr2:62983008 C
C
 G
G
 1 a0001c0001t0001g0149
a0001c0001t0001g0149
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.2608+3673C>G
c.2608+3673C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62983008
chr2:62983018 C
C
 T
T
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.2608+3683C>T
c.2608+3683C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62983018
chr2:62983698 T
T
 C
C
 1 a0002c0002t0001g0195
a0002c0002t0001g0195
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.2608+4363T>C
c.2608+4363T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62983698
chr2:62983837 C
C
 T
T
 2 a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0062
a0001c0001t0001g0065
 2 HG03139.hp1
NA19240.hp2
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.2608+4502C>T
c.2608+4502C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62983837
chr2:62984064 TG
TG
 T
T
 9 a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
others(6): Show 
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
a0001c0001t0005g0066
 9 HG02109.hp2
HG02559.hp2
HG02818.hp1
others(6): Show 
HG02109.hp2
HG02559.hp2
HG02818.hp1
HG02886.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.2608+4730delG
c.2608+4730delG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62984064
chr2:62984242 C
C
 T
T
 3 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
 3 HG02258.hp2
HG02717.hp1
HG03195.hp1
HG02258.hp2
HG02717.hp1
HG03195.hp1
 intron_variant MODIFIER c.2608+4907C>T
c.2608+4907C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62984242
chr2:62984309 C
C
 T
T
 2 a0001c0001t0001g0063
a0001c0001t0001g0067
a0001c0001t0001g0063
a0001c0001t0001g0067
 2 HG02109.hp2
HG03540.hp1
HG02109.hp2
HG03540.hp1
 intron_variant MODIFIER c.2608+4974C>T
c.2608+4974C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62984309
chr2:62984718 T
T
 C
C
 1 a0001c0001t0001g0150
a0001c0001t0001g0150
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.2608+5383T>C
c.2608+5383T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62984718
chr2:62984799 C
C
 A
A
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.2608+5464C>A
c.2608+5464C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62984799
chr2:62985058 C
C
 T
T
 1 a0001c0001t0002g0080
a0001c0001t0002g0080
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.2609-5658C>T
c.2609-5658C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62985058
chr2:62985232 C
C
 T
T
 1 a0002c0002t0001g0014
a0002c0002t0001g0014
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.2609-5484C>T
c.2609-5484C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62985232
chr2:62985396 A
A
 G
G
 2 a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0035
a0001c0001t0001g0036
 2 HG01884.hp1
HG02965.hp1
HG01884.hp1
HG02965.hp1
 intron_variant MODIFIER c.2609-5320A>G
c.2609-5320A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62985396
chr2:62985702 G
G
 A
A
 6 a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
others(3): Show 
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
 6 HG02717.hp2
HG03130.hp1
HG03540.hp2
others(3): Show 
HG02717.hp2
HG03130.hp1
HG03540.hp2
NA18906.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.2609-5014G>A
c.2609-5014G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62985702
chr2:62986583 C
C
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.2609-4133C>T
c.2609-4133C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62986583
chr2:62986745 T
T
 C
C
 1 a0001c0001t0002g0080
a0001c0001t0002g0080
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.2609-3971T>C
c.2609-3971T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62986745
chr2:62986835 T
T
 C
C
 81 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(78): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0006t0001g0160
a0001c0010t0001g0155
a0003c0005t0001g0163
a0003c0005t0001g0164
 81 HG00099.hp1
HG00280.hp1
HG00544.hp1
others(78): Show 
HG00099.hp1
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp2
HG01167.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01515.hp2
HG01884.hp2
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03704.hp2
HG03710.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18951.hp2
NA18952.hp2
NA18955.hp2
NA18960.hp2
NA18962.hp2
NA18963.hp2
NA18972.hp2
NA18984.hp2
NA18989.hp1
NA18992.hp1
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19068.hp2
NA19077.hp1
NA19079.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2609-3881T>C
c.2609-3881T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62986835
chr2:62987401 T
T
 A
A
 1 a0002c0002t0001g0195
a0002c0002t0001g0195
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.2609-3315T>A
c.2609-3315T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62987401
chr2:62987492 A
A
 G
G
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.2609-3224A>G
c.2609-3224A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62987492
chr2:62987919 A
A
 G
G
 2 a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0119
a0001c0001t0001g0120
 2 HG02922.hp1
HG02970.hp2
HG02922.hp1
HG02970.hp2
 intron_variant MODIFIER c.2609-2797A>G
c.2609-2797A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62987919
chr2:62988063 G
G
 A
A
 1 a0001c0008t0001g0076
a0001c0008t0001g0076
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.2609-2653G>A
c.2609-2653G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62988063
chr2:62988328 C
C
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.2609-2388C>T
c.2609-2388C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62988328
chr2:62988687 A
A
 G
G
 2 a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0171
a0001c0001t0001g0172
 2 HG01346.hp1
NA20752.hp2
HG01346.hp1
NA20752.hp2
 intron_variant MODIFIER c.2609-2029A>G
c.2609-2029A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62988687
chr2:62988777 G
G
 A
A
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.2609-1939G>A
c.2609-1939G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62988777
chr2:62988847 G
G
 C
C
 2 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0116
a0001c0001t0001g0117
 2 HG02818.hp1
HG03139.hp2
HG02818.hp1
HG03139.hp2
 intron_variant MODIFIER c.2609-1869G>C
c.2609-1869G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62988847
chr2:62988858 T
T
 C
C
 1 a0001c0001t0001g0031
a0001c0001t0001g0031
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.2609-1858T>C
c.2609-1858T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62988858
chr2:62988860 A
A
 G
G
 4 a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
others(1): Show 
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
 4 HG01884.hp2
HG02818.hp2
HG02922.hp2
others(1): Show 
HG01884.hp2
HG02818.hp2
HG02922.hp2
HG03130.hp2
 intron_variant MODIFIER c.2609-1856A>G
c.2609-1856A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62988860
chr2:62988979 C
C
 G
G
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.2609-1737C>G
c.2609-1737C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62988979
chr2:62989035 G
G
 A
A
 1 a0001c0001t0002g0143
a0001c0001t0002g0143
 1 NA18963.hp2
NA18963.hp2
 intron_variant MODIFIER c.2609-1681G>A
c.2609-1681G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62989035
chr2:62989156 T
T
 G
G
 2 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0116
a0001c0001t0001g0117
 2 HG02818.hp1
HG03139.hp2
HG02818.hp1
HG03139.hp2
 intron_variant MODIFIER c.2609-1560T>G
c.2609-1560T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62989156
chr2:62989208 T
T
 A
A
 8 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(5): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0165
a0001c0001t0001g0185
 8 HG00642.hp1
HG01261.hp2
HG01361.hp1
others(5): Show 
HG00642.hp1
HG01261.hp2
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
HG02886.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2609-1508T>A
c.2609-1508T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62989208
chr2:62989209 A
A
 T
T
 21 a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0002g0080
others(18): Show 
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0002g0080
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
 21 HG00558.hp1
HG01243.hp1
HG01257.hp2
others(18): Show 
HG00558.hp1
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02293.hp1
HG02300.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18963.hp1
NA18984.hp1
NA18992.hp2
NA18998.hp1
NA19065.hp1
NA19068.hp1
NA19079.hp1
 intron_variant MODIFIER c.2609-1507A>T
c.2609-1507A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62989209
chr2:62989527 C
C
 G
G
 1 a0001c0001t0001g0078
a0001c0001t0001g0078
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.2609-1189C>G
c.2609-1189C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62989527
chr2:62990431 T
T
 C
C
 2 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0022
a0001c0001t0001g0023
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.2609-285T>C
c.2609-285T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 15/22 chr2 62990431
chr2:62990981 G
G
 A
A
 2 a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0001g0118
a0001c0004t0001g0121
 2 HG01167.hp2
HG02809.hp2
HG01167.hp2
HG02809.hp2
 intron_variant MODIFIER c.2733+141G>A
c.2733+141G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 16/22 chr2 62990981
chr2:62991564 A
A
 C
C
 1 a0001c0001t0001g0117
a0001c0001t0001g0117
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.2733+724A>C
c.2733+724A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 16/22 chr2 62991564
chr2:62991759 C
C
 A
A
 1 a0001c0001t0001g0016
a0001c0001t0001g0016
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.2733+919C>A
c.2733+919C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 16/22 chr2 62991759
chr2:62993064 G
G
 A
A
 1 a0001c0001t0001g0136
a0001c0001t0001g0136
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.2734-466G>A
c.2734-466G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 16/22 chr2 62993064
chr2:62993453 T
T
 C
C
 1 a0001c0001t0002g0176
a0001c0001t0002g0176
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.2734-77T>C
c.2734-77T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 16/22 chr2 62993453
chr2:62993483 T
T
 C
C
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.2734-47T>C
c.2734-47T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 16/22 chr2 62993483
chr2:62993526 T
T
 C
C
 1 a0001c0006t0001g0160
a0001c0006t0001g0160
 1 HG00738.hp1
HG00738.hp1
 splice_region_variant&intron_variant LOW c.2734-4T>C
c.2734-4T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 16/22 chr2 62993526
chr2:62993724 C
C
 CTATATAT
others(32): Show 
CTATATATAGTATATATATATAGTATATATATATAGCATA
 1 a0001c0003t0001g0187
a0001c0003t0001g0187
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.2872+73_2873-92dup
others(39): Show 
c.2872+73_2873-92dupATATAGTATATATATATAGCATATATATAT
AGTATATAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 17/22 INFO_REALIGN_3_PRIME chr2 62993724
chr2:62993834 C
C
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.2873-37C>T
c.2873-37C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 17/22 chr2 62993834
chr2:62994140 G
G
 A
A
 1 a0002c0002t0001g0195
a0002c0002t0001g0195
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.2979+163G>A
c.2979+163G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 18/22 chr2 62994140
chr2:62995633 A
A
 T
T
 1 a0001c0001t0001g0048
a0001c0001t0001g0048
 1 NA18999.hp2
NA18999.hp2
 intron_variant MODIFIER c.2980-1010A>T
c.2980-1010A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 18/22 chr2 62995633
chr2:62996024 C
C
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.2980-619C>G
c.2980-619C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 18/22 chr2 62996024
chr2:62996450 C
C
 G
G
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.2980-193C>G
c.2980-193C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 18/22 chr2 62996450
chr2:62996873 C
C
 G
G
 2 a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0111
a0001c0001t0002g0113
 2 HG01243.hp1
HG02300.hp1
HG01243.hp1
HG02300.hp1
 intron_variant MODIFIER c.3103+107C>G
c.3103+107C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 62996873
chr2:62997084 A
A
 AT
AT
 4 a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
others(1): Show 
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0180
 4 HG00558.hp2
HG00621.hp1
HG02071.hp1
others(1): Show 
HG00558.hp2
HG00621.hp1
HG02071.hp1
NA19005.hp2
 intron_variant MODIFIER c.3103+320dupT
c.3103+320dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 62997084
chr2:62997393 A
A
 G
G
 1 a0001c0001t0001g0184
a0001c0001t0001g0184
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.3103+627A>G
c.3103+627A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 62997393
chr2:62997427 C
C
 CGT
CGT
 5 a0001c0001t0001g0003
a0001c0001t0001g0128
a0001c0001t0001g0133
others(2): Show 
a0001c0001t0001g0003
a0001c0001t0001g0128
a0001c0001t0001g0133
a0001c0001t0001g0146
a0001c0001t0001g0170
 5 HG00558.hp2
HG01258.hp1
HG02559.hp1
others(2): Show 
HG00558.hp2
HG01258.hp1
HG02559.hp1
HG03491.hp1
NA19079.hp2
 intron_variant MODIFIER c.3103+661_3103+662i
others(4): Show 
c.3103+661_3103+662insGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 62997427
chr2:62997427 C
C
 CGTGT
CGTGT
 2 a0001c0001t0001g0147
a0001c0001t0001g0177
a0001c0001t0001g0147
a0001c0001t0001g0177
 2 HG02015.hp1
HG02071.hp1
HG02015.hp1
HG02071.hp1
 intron_variant MODIFIER c.3103+661_3103+662i
others(6): Show 
c.3103+661_3103+662insGTGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 62997427
chr2:62997427 CAT
CAT
 C
C
 36 a0001c0001t0001g0001
a0001c0001t0001g0016
a0001c0001t0001g0017
others(33): Show 
a0001c0001t0001g0001
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0032
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0068
a0001c0001t0001g0122
a0001c0001t0001g0126
a0001c0001t0001g0130
a0001c0001t0001g0134
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0150
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0175
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0196
a0001c0001t0002g0080
a0001c0001t0002g0168
a0001c0003t0001g0186
a0001c0003t0001g0189
a0001c0003t0001g0190
a0002c0002t0001g0004
a0002c0002t0001g0012
 36 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(33): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00639.hp1
HG01175.hp2
HG01257.hp1
HG01346.hp1
HG02165.hp2
HG02717.hp2
HG02735.hp1
HG02970.hp1
HG03017.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03831.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18952.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp1
NA18984.hp2
NA18998.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19077.hp1
NA19077.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3103+662_3103+663d
others(4): Show 
c.3103+662_3103+663delAT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 62997427
chr2:62997427 CATGT
CATGT
 C
C
 39 a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0018
others(36): Show 
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0033
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0075
a0001c0001t0001g0132
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0162
a0001c0001t0001g0174
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0193
a0001c0001t0002g0086
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0014
a0002c0002t0001g0125
a0002c0002t0001g0131
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 39 HG00738.hp1
HG01070.hp2
HG01071.hp1
others(36): Show 
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01123.hp2
HG01243.hp2
HG01261.hp1
HG01361.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02040.hp1
HG02040.hp2
HG02135.hp1
HG02155.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02622.hp1
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03471.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp2
HG03704.hp2
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18954.hp1
NA18962.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA19005.hp2
NA19009.hp2
NA19043.hp1
 intron_variant MODIFIER c.3103+662_3103+665d
others(6): Show 
c.3103+662_3103+665delATGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 62997427
chr2:62997427 CATGTGT
CATGTGT
 C
C
 9 a0001c0001t0001g0015
a0001c0001t0001g0021
a0001c0001t0001g0041
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0001g0021
a0001c0001t0001g0041
a0001c0003t0001g0187
a0001c0003t0001g0188
a0002c0002t0001g0005
a0002c0002t0001g0013
a0002c0002t0001g0071
a0002c0002t0001g0195
 9 HG00438.hp1
HG00738.hp2
HG01123.hp1
others(6): Show 
HG00438.hp1
HG00738.hp2
HG01123.hp1
HG01361.hp2
HG02165.hp1
HG02886.hp1
HG03130.hp1
HG03130.hp2
NA19240.hp1
 intron_variant MODIFIER c.3103+662_3103+667d
others(8): Show 
c.3103+662_3103+667delATGTGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 62997427
chr2:62997428 A
A
 ATG
ATG
 9 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0025
others(6): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0031
a0001c0001t0001g0055
a0001c0001t0002g0096
a0001c0004t0003g0114
a0001c0004t0003g0115
 9 HG00099.hp2
HG01074.hp1
HG02258.hp1
others(6): Show 
HG00099.hp2
HG01074.hp1
HG02258.hp1
HG02280.hp2
HG02698.hp1
HG03491.hp2
HG03492.hp1
NA18962.hp1
NA20300.hp1
 intron_variant MODIFIER c.3103+710_3103+711d
others(4): Show 
c.3103+710_3103+711dupGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 62997428
chr2:62997428 A
A
 ATGTG
ATGTG
 4 a0001c0001t0001g0185
a0001c0001t0002g0104
a0001c0001t0002g0105
others(1): Show 
a0001c0001t0001g0185
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0112
 4 HG01257.hp2
HG01258.hp2
HG02145.hp1
others(1): Show 
HG01257.hp2
HG01258.hp2
HG02145.hp1
HG02886.hp2
 intron_variant MODIFIER c.3103+708_3103+711d
others(6): Show 
c.3103+708_3103+711dupGTGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 62997428
chr2:62997428 A
A
 G
G
 33 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0042
others(30): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0042
a0001c0001t0001g0048
a0001c0001t0001g0057
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0106
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0133
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0177
a0001c0001t0001g0182
a0001c0001t0001g0194
a0001c0001t0001g0198
 33 HG00544.hp1
HG00558.hp2
HG00621.hp1
others(30): Show 
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG01074.hp2
HG01167.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG02015.hp1
HG02071.hp1
HG02109.hp1
HG02145.hp2
HG02258.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02698.hp2
HG02717.hp1
HG03098.hp1
HG03195.hp1
HG03471.hp2
HG03491.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
NA18960.hp1
NA18972.hp2
NA18999.hp1
NA18999.hp2
NA19068.hp2
NA19079.hp2
 intron_variant MODIFIER c.3103+662A>G
c.3103+662A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 62997428
chr2:62997428 ATG
ATG
 A
A
 26 a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0061
others(23): Show 
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0127
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0176
a0001c0001t0004g0089
a0001c0001t0005g0066
 26 HG00558.hp1
HG01071.hp2
HG01243.hp1
others(23): Show 
HG00558.hp1
HG01071.hp2
HG01243.hp1
HG01884.hp1
HG02015.hp2
HG02071.hp2
HG02109.hp2
HG02135.hp2
HG02155.hp2
HG02280.hp1
HG02818.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03540.hp1
HG03710.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18998.hp1
NA19065.hp1
NA19240.hp2
 intron_variant MODIFIER c.3103+710_3103+711d
others(4): Show 
c.3103+710_3103+711delGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 62997428
chr2:62997428 ATGTG
ATGTG
 A
A
 16 a0001c0001t0001g0024
a0001c0001t0001g0030
a0001c0001t0001g0039
others(13): Show 
a0001c0001t0001g0024
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0046
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0064
a0001c0001t0002g0037
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0099
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0007t0002g0097
 16 HG00438.hp2
HG00544.hp2
HG00621.hp2
others(13): Show 
HG00438.hp2
HG00544.hp2
HG00621.hp2
HG01070.hp1
HG01167.hp2
HG01175.hp1
HG01256.hp2
HG01981.hp1
HG02559.hp2
HG02809.hp2
HG03490.hp1
NA18747.hp2
NA19009.hp1
NA19012.hp2
NA19057.hp2
NA20805.hp2
 intron_variant MODIFIER c.3103+708_3103+711d
others(6): Show 
c.3103+708_3103+711delGTGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 62997428
chr2:62997428 ATGTGTGT
others(1): Show 
ATGTGTGTG
 A
A
 2 a0001c0001t0001g0052
a0001c0001t0002g0095
a0001c0001t0001g0052
a0001c0001t0002g0095
 2 NA18989.hp2
NA18995.hp2
NA18989.hp2
NA18995.hp2
 intron_variant MODIFIER c.3103+704_3103+711d
others(10): Show 
c.3103+704_3103+711delGTGTGTGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 62997428
chr2:62997891 G
G
 C
C
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.3103+1125G>C
c.3103+1125G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 62997891
chr2:62998042 CT
CT
 C
C
 10 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(7): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0185
a0001c0001t0005g0066
 10 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(7): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02818.hp1
HG02886.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.3103+1281delT
c.3103+1281delT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 62998042
chr2:62998048 A
A
 T
T
 1 a0001c0001t0001g0021
a0001c0001t0001g0021
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.3103+1282A>T
c.3103+1282A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 62998048
chr2:62998581 T
T
 C
C
 1 a0001c0001t0002g0088
a0001c0001t0002g0088
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.3103+1815T>C
c.3103+1815T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 62998581
chr2:62998652 T
T
 C
C
 1 a0001c0008t0001g0076
a0001c0008t0001g0076
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.3103+1886T>C
c.3103+1886T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 62998652
chr2:62999827 G
G
 A
A
 2 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0016
a0001c0001t0001g0017
 2 HG03195.hp2
NA19043.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.3103+3061G>A
c.3103+3061G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 62999827
chr2:63000123 G
G
 A
A
 1 a0001c0010t0001g0155
a0001c0010t0001g0155
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.3103+3357G>A
c.3103+3357G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63000123
chr2:63000386 T
T
 G
G
 2 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0116
a0001c0001t0001g0117
 2 HG02818.hp1
HG03139.hp2
HG02818.hp1
HG03139.hp2
 intron_variant MODIFIER c.3103+3620T>G
c.3103+3620T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63000386
chr2:63000470 T
T
 C
C
 3 a0001c0001t0001g0124
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0124
a0001c0001t0001g0178
a0001c0001t0001g0179
 3 HG01123.hp2
HG01167.hp1
HG02293.hp2
HG01123.hp2
HG01167.hp1
HG02293.hp2
 intron_variant MODIFIER c.3103+3704T>C
c.3103+3704T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63000470
chr2:63000592 G
G
 T
T
 2 a0001c0001t0001g0139
a0001c0001t0001g0142
a0001c0001t0001g0139
a0001c0001t0001g0142
 2 HG01257.hp1
HG03017.hp2
HG01257.hp1
HG03017.hp2
 intron_variant MODIFIER c.3103+3826G>T
c.3103+3826G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63000592
chr2:63000660 T
T
 C
C
 2 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0016
a0001c0001t0001g0017
 2 HG03195.hp2
NA19043.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.3103+3894T>C
c.3103+3894T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63000660
chr2:63001436 T
T
 A
A
 1 a0001c0001t0001g0026
a0001c0001t0001g0026
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.3103+4670T>A
c.3103+4670T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63001436
chr2:63001536 T
T
 C
C
 1 a0001c0001t0001g0165
a0001c0001t0001g0165
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.3103+4770T>C
c.3103+4770T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63001536
chr2:63001791 C
C
 T
T
 7 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(4): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0005g0066
 7 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(4): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.3103+5025C>T
c.3103+5025C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63001791
chr2:63001861 G
G
 A
A
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.3103+5095G>A
c.3103+5095G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63001861
chr2:63002415 A
A
 C
C
 2 a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0092
a0001c0001t0002g0093
 2 HG00544.hp2
NA19012.hp2
HG00544.hp2
NA19012.hp2
 intron_variant MODIFIER c.3103+5649A>C
c.3103+5649A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63002415
chr2:63002651 G
G
 A
A
 1 a0001c0001t0001g0134
a0001c0001t0001g0134
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.3103+5885G>A
c.3103+5885G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63002651
chr2:63002815 T
T
 C
C
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.3103+6049T>C
c.3103+6049T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63002815
chr2:63002946 T
T
 C
C
 14 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(11): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0165
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
 14 HG00642.hp1
HG01261.hp2
HG01361.hp1
others(11): Show 
HG00642.hp1
HG01261.hp2
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG03130.hp1
HG03540.hp2
NA18906.hp1
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3103+6180T>C
c.3103+6180T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63002946
chr2:63002971 A
A
 G
G
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.3103+6205A>G
c.3103+6205A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63002971
chr2:63003217 A
A
 C
C
 1 a0002c0002t0001g0195
a0002c0002t0001g0195
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.3103+6451A>C
c.3103+6451A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63003217
chr2:63003686 G
G
 T
T
 2 a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0068
a0001c0001t0001g0072
 2 HG00642.hp1
homoSapiens_chm13v2.hp1
HG00642.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3103+6920G>T
c.3103+6920G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63003686
chr2:63004074 G
G
 T
T
 1 a0001c0001t0001g0133
a0001c0001t0001g0133
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.3103+7308G>T
c.3103+7308G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63004074
chr2:63004184 G
G
 A
A
 1 a0001c0001t0001g0158
a0001c0001t0001g0158
 1 NA18992.hp1
NA18992.hp1
 intron_variant MODIFIER c.3103+7418G>A
c.3103+7418G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63004184
chr2:63004399 A
A
 G
G
 160 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(157): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 160 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(157): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3103+7633A>G
c.3103+7633A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63004399
chr2:63004648 C
C
 T
T
 1 a0001c0001t0001g0117
a0001c0001t0001g0117
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.3103+7882C>T
c.3103+7882C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63004648
chr2:63004674 A
A
 G
G
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.3103+7908A>G
c.3103+7908A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63004674
chr2:63004969 G
G
 A
A
 2 a0001c0001t0001g0141
a0001c0001t0001g0150
a0001c0001t0001g0141
a0001c0001t0001g0150
 2 NA18747.hp1
NA19057.hp1
NA18747.hp1
NA19057.hp1
 intron_variant MODIFIER c.3103+8203G>A
c.3103+8203G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63004969
chr2:63005095 T
T
 C
C
 1 a0002c0002t0001g0195
a0002c0002t0001g0195
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.3103+8329T>C
c.3103+8329T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63005095
chr2:63005962 A
A
 G
G
 1 a0001c0001t0001g0130
a0001c0001t0001g0130
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.3103+9196A>G
c.3103+9196A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63005962
chr2:63006182 A
A
 G
G
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.3103+9416A>G
c.3103+9416A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63006182
chr2:63006187 A
A
 G
G
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.3103+9421A>G
c.3103+9421A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63006187
chr2:63006700 ACT
ACT
 A
A
 4 a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0067
others(1): Show 
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0067
a0001c0001t0005g0066
 4 HG02109.hp2
HG02280.hp1
HG03098.hp2
others(1): Show 
HG02109.hp2
HG02280.hp1
HG03098.hp2
HG03540.hp1
 intron_variant MODIFIER c.3103+9937_3103+993
others(6): Show 
c.3103+9937_3103+9938delCT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63006700
chr2:63006827 A
A
 G
G
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.3103+10061A>G
c.3103+10061A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63006827
chr2:63007009 T
T
 C
C
 1 a0001c0001t0001g0184
a0001c0001t0001g0184
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.3103+10243T>C
c.3103+10243T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63007009
chr2:63007418 A
A
 G
G
 15 a0001c0001t0001g0122
a0001c0001t0001g0194
a0002c0002t0001g0004
others(12): Show 
a0001c0001t0001g0122
a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0004c0009t0001g0197
 15 HG00438.hp1
HG01074.hp2
HG01123.hp1
others(12): Show 
HG00438.hp1
HG01074.hp2
HG01123.hp1
HG01243.hp2
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp1
 intron_variant MODIFIER c.3103+10652A>G
c.3103+10652A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63007418
chr2:63007867 A
A
 T
T
 7 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(4): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0005g0066
 7 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(4): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.3103+11101A>T
c.3103+11101A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63007867
chr2:63007931 GACAA
GACAA
 G
G
 2 a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0078
a0001c0001t0001g0079
 2 HG02258.hp2
HG02717.hp1
HG02258.hp2
HG02717.hp1
 intron_variant MODIFIER c.3103+11169_3103+11
others(10): Show 
c.3103+11169_3103+11172delAACA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63007931
chr2:63008864 A
A
 C
C
 2 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0043
a0001c0001t0001g0044
 2 HG02809.hp1
HG03471.hp1
HG02809.hp1
HG03471.hp1
 intron_variant MODIFIER c.3103+12098A>C
c.3103+12098A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63008864
chr2:63009996 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.3103+13230A>G
c.3103+13230A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63009996
chr2:63010046 G
G
 A
A
 1 a0001c0001t0001g0196
a0001c0001t0001g0196
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.3103+13280G>A
c.3103+13280G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63010046
chr2:63010602 A
A
 G
G
 1 a0001c0001t0001g0031
a0001c0001t0001g0031
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.3103+13836A>G
c.3103+13836A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63010602
chr2:63010944 G
G
 A
A
 1 a0002c0002t0001g0125
a0002c0002t0001g0125
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.3103+14178G>A
c.3103+14178G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63010944
chr2:63011211 G
G
 C
C
 16 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(13): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0075
a0001c0001t0001g0106
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0006t0001g0160
a0003c0005t0001g0163
a0003c0005t0001g0164
 16 HG00099.hp1
HG00639.hp1
HG00738.hp1
others(13): Show 
HG00099.hp1
HG00639.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG03491.hp1
HG03927.hp1
NA18960.hp1
NA18972.hp2
NA18989.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.3103+14445G>C
c.3103+14445G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63011211
chr2:63011501 A
A
 C
C
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.3103+14735A>C
c.3103+14735A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63011501
chr2:63011542 T
T
 G
G
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.3103+14776T>G
c.3103+14776T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63011542
chr2:63011576 C
C
 T
T
 1 a0001c0001t0001g0161
a0001c0001t0001g0161
 1 NA18972.hp2
NA18972.hp2
 intron_variant MODIFIER c.3103+14810C>T
c.3103+14810C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63011576
chr2:63012021 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.3103+15255A>G
c.3103+15255A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63012021
chr2:63012031 T
T
 A
A
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.3103+15265T>A
c.3103+15265T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63012031
chr2:63012033 T
T
 C
C
 10 a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
others(7): Show 
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0168
 10 HG01243.hp1
HG01257.hp2
HG01258.hp2
others(7): Show 
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG02145.hp1
HG02293.hp1
HG02300.hp1
NA18960.hp2
NA18992.hp2
NA19065.hp1
NA19068.hp1
 intron_variant MODIFIER c.3103+15267T>C
c.3103+15267T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63012033
chr2:63012829 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.3103+16063A>G
c.3103+16063A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63012829
chr2:63013443 G
G
 A
A
 1 a0001c0001t0001g0157
a0001c0001t0001g0157
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.3103+16677G>A
c.3103+16677G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63013443
chr2:63013802 A
A
 G
G
 1 a0001c0001t0001g0184
a0001c0001t0001g0184
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.3103+17036A>G
c.3103+17036A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63013802
chr2:63014195 A
A
 G
G
 1 a0001c0001t0001g0184
a0001c0001t0001g0184
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.3103+17429A>G
c.3103+17429A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63014195
chr2:63014292 G
G
 A
A
 1 a0001c0001t0001g0144
a0001c0001t0001g0144
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.3103+17526G>A
c.3103+17526G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63014292
chr2:63014702 G
G
 T
T
 1 a0001c0001t0002g0099
a0001c0001t0002g0099
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.3103+17936G>T
c.3103+17936G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63014702
chr2:63014867 A
A
 G
G
 6 a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0085
others(3): Show 
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0085
a0001c0001t0002g0087
a0001c0001t0002g0100
a0001c0001t0004g0089
 6 HG02015.hp2
HG02071.hp2
HG02135.hp2
others(3): Show 
HG02015.hp2
HG02071.hp2
HG02135.hp2
NA18955.hp1
NA18998.hp1
NA19079.hp1
 intron_variant MODIFIER c.3103+18101A>G
c.3103+18101A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63014867
chr2:63015633 C
C
 T
T
 2 a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0004t0003g0114
a0001c0004t0003g0115
 2 HG02280.hp2
NA20300.hp1
HG02280.hp2
NA20300.hp1
 intron_variant MODIFIER c.3103+18867C>T
c.3103+18867C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63015633
chr2:63015952 G
G
 A
A
 2 a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0009
a0002c0002t0001g0010
 2 HG03490.hp2
HG03492.hp2
HG03490.hp2
HG03492.hp2
 intron_variant MODIFIER c.3103+19186G>A
c.3103+19186G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63015952
chr2:63016499 C
C
 T
T
 1 a0002c0002t0001g0195
a0002c0002t0001g0195
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.3103+19733C>T
c.3103+19733C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63016499
chr2:63016560 A
A
 T
T
 13 a0001c0001t0001g0122
a0002c0002t0001g0004
a0002c0002t0001g0005
others(10): Show 
a0001c0001t0001g0122
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
 13 HG00438.hp1
HG01123.hp1
HG01361.hp2
others(10): Show 
HG00438.hp1
HG01123.hp1
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG02886.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp1
 intron_variant MODIFIER c.3103+19794A>T
c.3103+19794A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63016560
chr2:63016566 G
G
 T
T
 1 a0001c0001t0001g0129
a0001c0001t0001g0129
 1 NA18999.hp1
NA18999.hp1
 intron_variant MODIFIER c.3103+19800G>T
c.3103+19800G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63016566
chr2:63016751 A
A
 T
T
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.3103+19985A>T
c.3103+19985A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63016751
chr2:63016795 G
G
 A
A
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.3103+20029G>A
c.3103+20029G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63016795
chr2:63016870 A
A
 G
G
 1 a0002c0002t0001g0195
a0002c0002t0001g0195
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.3103+20104A>G
c.3103+20104A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63016870
chr2:63017042 G
G
 A
A
 2 a0001c0001t0001g0184
a0001c0001t0001g0198
a0001c0001t0001g0184
a0001c0001t0001g0198
 2 HG02622.hp2
NA18906.hp2
HG02622.hp2
NA18906.hp2
 intron_variant MODIFIER c.3103+20276G>A
c.3103+20276G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63017042
chr2:63017084 C
C
 G
G
 1 a0001c0006t0001g0160
a0001c0006t0001g0160
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.3103+20318C>G
c.3103+20318C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63017084
chr2:63017117 A
A
 G
G
 2 a0001c0001t0001g0107
a0001c0001t0001g0157
a0001c0001t0001g0107
a0001c0001t0001g0157
 2 HG02155.hp1
NA18963.hp1
HG02155.hp1
NA18963.hp1
 intron_variant MODIFIER c.3103+20351A>G
c.3103+20351A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63017117
chr2:63018080 G
G
 T
T
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.3104-19455G>T
c.3104-19455G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63018080
chr2:63018163 T
T
 C
C
 2 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0025
a0001c0001t0001g0031
 2 HG01074.hp1
HG02258.hp1
HG01074.hp1
HG02258.hp1
 intron_variant MODIFIER c.3104-19372T>C
c.3104-19372T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63018163
chr2:63018240 A
A
 G
G
 2 a0001c0001t0001g0057
a0001c0001t0001g0183
a0001c0001t0001g0057
a0001c0001t0001g0183
 2 HG02109.hp1
HG03453.hp1
HG02109.hp1
HG03453.hp1
 intron_variant MODIFIER c.3104-19295A>G
c.3104-19295A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63018240
chr2:63019731 AAGGGAAG
others(8): Show 
AAGGGAAGAGGAGGGG
 A
A
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.3104-17784_3104-17
others(21): Show 
c.3104-17784_3104-17770delAAGAGGAGGGGAGGG
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63019731
chr2:63019771 G
G
 C
C
 2 a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0004t0003g0114
a0001c0004t0003g0115
 2 HG02280.hp2
NA20300.hp1
HG02280.hp2
NA20300.hp1
 intron_variant MODIFIER c.3104-17764G>C
c.3104-17764G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63019771
chr2:63019807 G
G
 A
A
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.3104-17728G>A
c.3104-17728G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63019807
chr2:63019825 G
G
 GGGGA
GGGGA
 6 a0001c0001t0001g0043
a0001c0001t0001g0069
a0001c0001t0001g0072
others(3): Show 
a0001c0001t0001g0043
a0001c0001t0001g0069
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0132
a0001c0001t0001g0180
 6 HG00642.hp1
HG01515.hp2
HG02735.hp2
others(3): Show 
HG00642.hp1
HG01515.hp2
HG02735.hp2
HG02809.hp1
HG02965.hp2
NA19005.hp2
 intron_variant MODIFIER c.3104-17705_3104-17
others(10): Show 
c.3104-17705_3104-17702dupGGGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63019825
chr2:63019826 G
G
 A
A
 1 a0001c0001t0001g0133
a0001c0001t0001g0133
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.3104-17709G>A
c.3104-17709G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63019826
chr2:63019830 G
G
 A
A
 2 a0001c0001t0001g0133
a0001c0003t0001g0187
a0001c0001t0001g0133
a0001c0003t0001g0187
 2 HG02559.hp1
NA19240.hp1
HG02559.hp1
NA19240.hp1
 intron_variant MODIFIER c.3104-17705G>A
c.3104-17705G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63019830
chr2:63019830 G
G
 GGGAA
GGGAA
 10 a0001c0001t0001g0026
a0001c0001t0001g0031
a0001c0001t0001g0192
others(7): Show 
a0001c0001t0001g0026
a0001c0001t0001g0031
a0001c0001t0001g0192
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0099
a0001c0001t0004g0089
 10 HG00099.hp2
HG01074.hp1
HG02015.hp2
others(7): Show 
HG00099.hp2
HG01074.hp1
HG02015.hp2
HG02040.hp1
HG03704.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp2
NA19079.hp1
NA20805.hp2
 intron_variant MODIFIER c.3104-17644_3104-17
others(10): Show 
c.3104-17644_3104-17641dupGGAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63019830
chr2:63019830 G
G
 GGGAAGGA
others(1): Show 
GGGAAGGAA
 9 a0001c0001t0001g0025
a0001c0001t0001g0038
a0001c0001t0002g0082
others(6): Show 
a0001c0001t0001g0025
a0001c0001t0001g0038
a0001c0001t0002g0082
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0101
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0143
 9 HG00544.hp2
HG00558.hp1
HG01515.hp1
others(6): Show 
HG00544.hp2
HG00558.hp1
HG01515.hp1
HG02258.hp1
NA18963.hp2
NA18992.hp2
NA18998.hp1
NA19012.hp2
NA19068.hp1
 intron_variant MODIFIER c.3104-17648_3104-17
others(14): Show 
c.3104-17648_3104-17641dupGGAAGGAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63019830
chr2:63019830 G
G
 GGGAGGGA
others(1): Show 
GGGAGGGAA
 17 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0007
others(14): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0018
a0001c0001t0001g0021
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0116
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0166
a0001c0001t0001g0171
a0001c0001t0001g0183
a0001c0001t0001g0193
a0001c0003t0001g0191
 17 HG00099.hp1
HG00558.hp2
HG01256.hp1
others(14): Show 
HG00099.hp1
HG00558.hp2
HG01256.hp1
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG02071.hp1
HG02300.hp2
HG02698.hp2
HG02818.hp1
HG02922.hp2
HG03130.hp2
HG03453.hp1
HG03540.hp2
HG04228.hp2
NA19009.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3104-17702_3104-17
others(14): Show 
c.3104-17702_3104-17701insGGGAAGGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63019830
chr2:63019830 G
G
 GGGAGGGA
others(5): Show 
GGGAGGGAAGGAA
 14 a0001c0001t0001g0001
a0001c0001t0001g0017
a0001c0001t0001g0020
others(11): Show 
a0001c0001t0001g0001
a0001c0001t0001g0017
a0001c0001t0001g0020
a0001c0001t0001g0130
a0001c0001t0001g0138
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0150
a0001c0001t0001g0157
a0001c0001t0001g0169
a0001c0001t0001g0181
a0001c0003t0001g0186
a0002c0002t0001g0195
 14 HG00544.hp1
HG01175.hp2
HG01884.hp2
others(11): Show 
HG00544.hp1
HG01175.hp2
HG01884.hp2
HG02155.hp1
HG02886.hp1
HG03017.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp2
HG03927.hp1
NA18747.hp1
NA19057.hp1
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.3104-17702_3104-17
others(18): Show 
c.3104-17702_3104-17701insGGGAAGGAAGGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63019830
chr2:63019830 G
G
 GGGAGGGA
others(9): Show 
GGGAGGGAAGGAAGGAA
 12 a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0152
others(9): Show 
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0175
a0001c0003t0001g0190
a0003c0005t0001g0163
a0003c0005t0001g0164
 12 HG01070.hp2
HG01071.hp1
HG01261.hp2
others(9): Show 
HG01070.hp2
HG01071.hp1
HG01261.hp2
HG02040.hp2
HG02165.hp2
HG02602.hp2
HG02622.hp1
NA18906.hp1
NA18951.hp2
NA18972.hp2
NA18989.hp1
NA19010.hp1
 intron_variant MODIFIER c.3104-17702_3104-17
others(22): Show 
c.3104-17702_3104-17701insGGGAAGGAAGGAAGGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63019830
chr2:63019830 G
G
 GGGAGGGA
others(13): Show 
GGGAGGGAAGGAAGGAAGGAA
 14 a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0075
others(11): Show 
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0075
a0001c0001t0001g0106
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0154
a0001c0001t0001g0167
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0198
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0010t0001g0155
 14 HG00621.hp1
HG00639.hp1
HG01257.hp1
others(11): Show 
HG00621.hp1
HG00639.hp1
HG01257.hp1
HG01261.hp1
HG02109.hp1
HG02135.hp1
HG02622.hp2
HG02717.hp2
HG03130.hp1
HG03471.hp1
HG03704.hp2
NA18960.hp1
NA19065.hp2
NA20752.hp2
 intron_variant MODIFIER c.3104-17702_3104-17
others(26): Show 
c.3104-17702_3104-17701insGGGAAGGAAGGAAGGAAGGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63019830
chr2:63019830 G
G
 GGGAGGGA
others(17): Show 
GGGAGGGAAGGAAGGAAGGAAGGAA
 6 a0001c0001t0001g0006
a0001c0001t0001g0016
a0001c0001t0001g0134
others(3): Show 
a0001c0001t0001g0006
a0001c0001t0001g0016
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0196
a0001c0006t0001g0160
 6 HG00280.hp1
HG00738.hp1
HG02970.hp1
others(3): Show 
HG00280.hp1
HG00738.hp1
HG02970.hp1
HG03471.hp2
NA18612.hp1
NA19043.hp2
 intron_variant MODIFIER c.3104-17702_3104-17
others(30): Show 
c.3104-17702_3104-17701insGGGAAGGAAGGAAGGAAGGAAGGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63019830
chr2:63019830 G
G
 GGGAGGGA
others(21): Show 
GGGAGGGAAGGAAGGAAGGAAGGAAGGAA
 2 a0001c0001t0001g0107
a0001c0001t0001g0126
a0001c0001t0001g0107
a0001c0001t0001g0126
 2 HG02735.hp1
NA18963.hp1
HG02735.hp1
NA18963.hp1
 intron_variant MODIFIER c.3104-17702_3104-17
others(34): Show 
c.3104-17702_3104-17701insGGGAAGGAAGGAAGGAAGGAAGGA
AGGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63019830
chr2:63019830 G
G
 GGGAGGGA
others(25): Show 
GGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAA
 3 a0001c0001t0001g0156
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0156
a0001c0001t0001g0170
a0001c0001t0001g0173
 3 HG03491.hp1
HG03710.hp2
NA18962.hp2
HG03491.hp1
HG03710.hp2
NA18962.hp2
 intron_variant MODIFIER c.3104-17702_3104-17
others(38): Show 
c.3104-17702_3104-17701insGGGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63019830
chr2:63019830 GGGAA
GGGAA
 G
G
 27 a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0032
others(24): Show 
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0050
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0060
a0001c0001t0001g0098
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0128
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0194
a0001c0001t0002g0080
a0001c0001t0002g0088
a0001c0001t0002g0094
a0001c0001t0002g0112
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0007t0002g0097
a0004c0009t0001g0197
 27 HG00280.hp2
HG00621.hp2
HG00738.hp2
others(24): Show 
HG00280.hp2
HG00621.hp2
HG00738.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01243.hp2
HG01256.hp2
HG01346.hp2
HG01884.hp1
HG01981.hp2
HG02015.hp1
HG02145.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
NA18962.hp1
NA18984.hp1
NA18984.hp2
NA19012.hp1
NA19068.hp2
NA19079.hp2
NA20300.hp1
NA20752.hp1
 intron_variant MODIFIER c.3104-17644_3104-17
others(10): Show 
c.3104-17644_3104-17641delGGAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63019830
chr2:63019830 GGGAAGGA
others(1): Show 
GGGAAGGAA
 G
G
 19 a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
others(16): Show 
a0001c0001t0001g0015
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0034
a0001c0001t0001g0039
a0001c0001t0001g0049
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0079
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0140
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0002g0095
a0001c0001t0002g0176
a0001c0004t0003g0115
a0002c0002t0001g0004
 19 HG01123.hp2
HG01167.hp1
HG01175.hp1
others(16): Show 
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG02165.hp1
HG02280.hp2
HG02293.hp2
HG02717.hp1
HG03098.hp1
HG03491.hp2
HG03492.hp1
HG03710.hp1
HG03831.hp1
HG03831.hp2
NA18747.hp2
NA18952.hp2
NA18955.hp2
NA18989.hp2
NA18998.hp2
NA19077.hp1
 intron_variant MODIFIER c.3104-17648_3104-17
others(14): Show 
c.3104-17648_3104-17641delGGAAGGAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63019830
chr2:63019830 GGGAAGGA
others(5): Show 
GGGAAGGAAGGAA
 G
G
 19 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
others(16): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0129
a0001c0001t0001g0182
a0001c0001t0001g0185
a0001c0001t0002g0090
a0001c0001t0002g0096
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
 19 HG00438.hp1
HG00639.hp2
HG00642.hp2
others(16): Show 
HG00438.hp1
HG00639.hp2
HG00642.hp2
HG01361.hp2
HG02258.hp2
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02698.hp1
HG02886.hp2
HG03195.hp1
HG03490.hp2
HG03492.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA18999.hp1
NA19077.hp2
NA19240.hp2
 intron_variant MODIFIER c.3104-17652_3104-17
others(18): Show 
c.3104-17652_3104-17641delGGAAGGAAGGAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63019830
chr2:63019830 GGGAAGGA
others(9): Show 
GGGAAGGAAGGAAGGAA
 G
G
 4 a0001c0001t0001g0063
a0001c0001t0001g0067
a0002c0002t0001g0013
others(1): Show 
a0001c0001t0001g0063
a0001c0001t0001g0067
a0002c0002t0001g0013
a0002c0002t0001g0014
 4 HG01123.hp1
HG01496.hp2
HG02109.hp2
others(1): Show 
HG01123.hp1
HG01496.hp2
HG02109.hp2
HG03540.hp1
 intron_variant MODIFIER c.3104-17656_3104-17
others(22): Show 
c.3104-17656_3104-17641delGGAAGGAAGGAAGGAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63019830
chr2:63019830 GGGAAGGA
others(21): Show 
GGGAAGGAAGGAAGGAAGGAAGGAAGGAA
 G
G
 1 a0001c0001t0005g0066
a0001c0001t0005g0066
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.3104-17668_3104-17
others(34): Show 
c.3104-17668_3104-17641delGGAAGGAAGGAAGGAAGGAAGGAA
GGAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63019830
chr2:63019834 A
A
 G
G
 3 a0001c0001t0001g0136
a0001c0001t0001g0158
a0001c0001t0001g0184
a0001c0001t0001g0136
a0001c0001t0001g0158
a0001c0001t0001g0184
 3 HG02145.hp2
NA18906.hp2
NA18992.hp1
HG02145.hp2
NA18906.hp2
NA18992.hp1
 intron_variant MODIFIER c.3104-17701A>G
c.3104-17701A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63019834
chr2:63019838 A
A
 G
G
 5 a0001c0001t0001g0128
a0001c0001t0001g0137
a0001c0001t0001g0177
others(2): Show 
a0001c0001t0001g0128
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0194
a0004c0009t0001g0197
 5 HG01074.hp2
HG01243.hp2
HG02015.hp1
others(2): Show 
HG01074.hp2
HG01243.hp2
HG02015.hp1
NA19068.hp2
NA19079.hp2
 intron_variant MODIFIER c.3104-17697A>G
c.3104-17697A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63019838
chr2:63019842 A
A
 G
G
 9 a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
others(6): Show 
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0140
a0001c0001t0001g0178
a0001c0001t0001g0179
a0002c0002t0001g0004
 9 HG01123.hp2
HG01167.hp1
HG02293.hp2
others(6): Show 
HG01123.hp2
HG01167.hp1
HG02293.hp2
HG03098.hp1
HG03831.hp2
NA18952.hp2
NA18955.hp2
NA18998.hp2
NA19077.hp1
 intron_variant MODIFIER c.3104-17693A>G
c.3104-17693A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63019842
chr2:63019846 A
A
 G
G
 11 a0001c0001t0001g0129
a0001c0001t0001g0182
a0002c0002t0001g0005
others(8): Show 
a0001c0001t0001g0129
a0001c0001t0001g0182
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
 11 HG00438.hp1
HG00642.hp2
HG01361.hp2
others(8): Show 
HG00438.hp1
HG00642.hp2
HG01361.hp2
HG02602.hp1
HG03490.hp2
HG03492.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA18999.hp1
NA19077.hp2
 intron_variant MODIFIER c.3104-17689A>G
c.3104-17689A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63019846
chr2:63019850 A
A
 G
G
 2 a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0013
a0002c0002t0001g0014
 2 HG01123.hp1
HG01496.hp2
HG01123.hp1
HG01496.hp2
 intron_variant MODIFIER c.3104-17685A>G
c.3104-17685A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63019850
chr2:63019892 G
G
 GAAGGAAG
others(18): Show 
GAAGGAAGGAAGGAAGGAAGGAAGGA
 1 a0001c0001t0001g0136
a0001c0001t0001g0136
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.3104-17641_3104-17
others(31): Show 
c.3104-17641_3104-17640insGGAAGGAAGGAAGGAAGGAAGGAA
A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63019892
chr2:63019964 G
G
 A
A
 1 a0001c0001t0001g0006
a0001c0001t0001g0006
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.3104-17571G>A
c.3104-17571G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63019964
chr2:63020047 C
C
 T
T
 1 a0001c0001t0001g0116
a0001c0001t0001g0116
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.3104-17488C>T
c.3104-17488C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63020047
chr2:63020111 G
G
 A
A
 2 a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0004t0003g0114
a0001c0004t0003g0115
 2 HG02280.hp2
NA20300.hp1
HG02280.hp2
NA20300.hp1
 intron_variant MODIFIER c.3104-17424G>A
c.3104-17424G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63020111
chr2:63020323 C
C
 CA
CA
 22 a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0039
others(19): Show 
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0039
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0053
a0001c0001t0001g0107
a0001c0001t0001g0122
a0001c0001t0001g0136
a0001c0001t0001g0144
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0157
a0001c0001t0002g0087
a0001c0001t0002g0096
a0001c0001t0002g0100
a0001c0001t0002g0112
a0001c0001t0002g0143
a0001c0001t0005g0066
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0125
 22 HG00438.hp1
HG00438.hp2
HG01175.hp1
others(19): Show 
HG00438.hp1
HG00438.hp2
HG01175.hp1
HG01175.hp2
HG01361.hp1
HG02071.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02602.hp1
HG02698.hp1
HG03098.hp2
HG03831.hp2
NA18612.hp1
NA18963.hp1
NA18963.hp2
NA18999.hp2
NA19009.hp1
NA19009.hp2
NA19077.hp1
 intron_variant MODIFIER c.3104-17189dupA
c.3104-17189dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63020323
chr2:63020323 CA
CA
 C
C
 13 a0001c0001t0001g0038
a0001c0001t0001g0077
a0001c0001t0001g0078
others(10): Show 
a0001c0001t0001g0038
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0137
a0001c0001t0001g0179
a0001c0001t0002g0103
a0001c0004t0001g0121
a0001c0008t0001g0076
a0002c0002t0001g0012
a0002c0002t0001g0013
 13 HG01123.hp1
HG01123.hp2
HG01167.hp1
others(10): Show 
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01515.hp1
HG02258.hp2
HG02293.hp1
HG02717.hp1
HG02809.hp2
HG03195.hp1
NA19043.hp1
NA19068.hp2
NA19077.hp2
NA19079.hp2
 intron_variant MODIFIER c.3104-17189delA
c.3104-17189delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63020323
chr2:63020335 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.3104-17200A>G
c.3104-17200A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63020335
chr2:63020341 A
A
 G
G
 1 a0001c0001t0001g0116
a0001c0001t0001g0116
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.3104-17194A>G
c.3104-17194A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63020341
chr2:63020502 CA
CA
 C
C
 6 a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
others(3): Show 
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0159
a0002c0002t0001g0005
a0002c0002t0001g0131
 6 HG00438.hp1
HG02145.hp2
HG02622.hp1
others(3): Show 
HG00438.hp1
HG02145.hp2
HG02622.hp1
HG02970.hp1
HG03471.hp2
NA18612.hp2
 intron_variant MODIFIER c.3104-17021delA
c.3104-17021delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63020502
chr2:63020508 AAAAAAAG
others(4): Show 
AAAAAAAGAAAG
 A
A
 13 a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0046
others(10): Show 
a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0192
 13 HG00438.hp2
HG00621.hp2
HG02165.hp1
others(10): Show 
HG00438.hp2
HG00621.hp2
HG02165.hp1
NA18747.hp2
NA18952.hp1
NA18962.hp1
NA18972.hp1
NA18995.hp2
NA18999.hp2
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19057.hp2
 intron_variant MODIFIER c.3104-17011_3104-17
others(17): Show 
c.3104-17011_3104-17001delAAGAAAGAAAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63020508
chr2:63020703 G
G
 A
A
 3 a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0165
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0165
 3 HG01261.hp2
HG01515.hp2
HG02300.hp2
HG01261.hp2
HG01515.hp2
HG02300.hp2
 intron_variant MODIFIER c.3104-16832G>A
c.3104-16832G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63020703
chr2:63020980 A
A
 AT
AT
 91 a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0016
others(88): Show 
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0034
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0046
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0193
a0001c0001t0001g0196
a0001c0001t0002g0087
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0103
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0005g0066
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0004t0001g0121
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0012
a0003c0005t0001g0163
a0003c0005t0001g0164
 91 HG00099.hp1
HG00280.hp1
HG00544.hp1
others(88): Show 
HG00099.hp1
HG00280.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01167.hp1
HG01175.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01515.hp2
HG01884.hp2
HG01981.hp2
HG02015.hp1
HG02040.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18952.hp2
NA18955.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18995.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19068.hp2
NA19077.hp2
NA19240.hp1
NA19240.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3104-16529dupT
c.3104-16529dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63020980
chr2:63020980 A
A
 ATT
ATT
 33 a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0025
others(30): Show 
a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0057
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0171
a0001c0001t0001g0175
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0194
a0001c0001t0001g0198
a0001c0003t0001g0186
a0001c0003t0001g0191
a0002c0002t0001g0004
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0125
a0002c0002t0001g0131
 33 HG00621.hp1
HG00639.hp1
HG00642.hp2
others(30): Show 
HG00621.hp1
HG00639.hp1
HG00642.hp2
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01346.hp1
HG01496.hp2
HG02109.hp1
HG02165.hp2
HG02258.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02818.hp1
HG03098.hp1
HG03453.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp2
HG03831.hp2
NA18612.hp1
NA18612.hp2
NA18954.hp1
NA18972.hp1
NA18972.hp2
NA18998.hp2
NA18999.hp1
NA19077.hp1
NA19079.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.3104-16530_3104-16
others(8): Show 
c.3104-16530_3104-16529dupTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63020980
chr2:63020980 A
A
 ATTT
ATTT
 6 a0001c0001t0001g0136
a0002c0002t0001g0005
a0002c0002t0001g0011
others(3): Show 
a0001c0001t0001g0136
a0002c0002t0001g0005
a0002c0002t0001g0011
a0002c0002t0001g0071
a0002c0002t0001g0195
a0004c0009t0001g0197
 6 HG00438.hp1
HG01243.hp2
HG01361.hp2
others(3): Show 
HG00438.hp1
HG01243.hp2
HG01361.hp2
HG02145.hp2
HG02886.hp1
NA18995.hp1
 intron_variant MODIFIER c.3104-16531_3104-16
others(9): Show 
c.3104-16531_3104-16529dupTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63020980
chr2:63021101 A
A
 G
G
 4 a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
others(1): Show 
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0008t0001g0076
 4 HG02258.hp2
HG02717.hp1
HG03195.hp1
others(1): Show 
HG02258.hp2
HG02717.hp1
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.3104-16434A>G
c.3104-16434A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63021101
chr2:63021156 A
A
 G
G
 1 a0001c0001t0001g0007
a0001c0001t0001g0007
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.3104-16379A>G
c.3104-16379A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63021156
chr2:63021269 A
A
 G
G
 4 a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0067
others(1): Show 
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0067
a0001c0001t0005g0066
 4 HG02109.hp2
HG02280.hp1
HG03098.hp2
others(1): Show 
HG02109.hp2
HG02280.hp1
HG03098.hp2
HG03540.hp1
 intron_variant MODIFIER c.3104-16266A>G
c.3104-16266A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63021269
chr2:63021785 A
A
 T
T
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.3104-15750A>T
c.3104-15750A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63021785
chr2:63021829 C
C
 G
G
 1 a0001c0004t0001g0118
a0001c0004t0001g0118
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.3104-15706C>G
c.3104-15706C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63021829
chr2:63021833 A
A
 C
C
 121 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(118): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0006t0001g0160
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 121 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(118): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp2
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18955.hp2
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18972.hp2
NA18984.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19068.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3104-15702A>C
c.3104-15702A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63021833
chr2:63022001 C
C
 T
T
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.3104-15534C>T
c.3104-15534C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63022001
chr2:63022130 C
C
 T
T
 12 a0001c0001t0001g0122
a0002c0002t0001g0004
a0002c0002t0001g0005
others(9): Show 
a0001c0001t0001g0122
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
 12 HG00438.hp1
HG01123.hp1
HG01361.hp2
others(9): Show 
HG00438.hp1
HG01123.hp1
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp1
 intron_variant MODIFIER c.3104-15405C>T
c.3104-15405C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63022130
chr2:63022353 C
C
 T
T
 1 a0001c0001t0001g0154
a0001c0001t0001g0154
 1 NA19065.hp2
NA19065.hp2
 intron_variant MODIFIER c.3104-15182C>T
c.3104-15182C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63022353
chr2:63022379 A
A
 G
G
 1 a0001c0008t0001g0076
a0001c0008t0001g0076
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.3104-15156A>G
c.3104-15156A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63022379
chr2:63022911 C
C
 T
T
 2 a0001c0001t0001g0162
a0002c0002t0001g0013
a0001c0001t0001g0162
a0002c0002t0001g0013
 2 HG01123.hp1
NA18989.hp1
HG01123.hp1
NA18989.hp1
 intron_variant MODIFIER c.3104-14624C>T
c.3104-14624C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63022911
chr2:63023190 T
T
 C
C
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.3104-14345T>C
c.3104-14345T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63023190
chr2:63023690 G
G
 A
A
 144 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(141): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0013
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 144 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(141): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01884.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18972.hp2
NA18984.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3104-13845G>A
c.3104-13845G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63023690
chr2:63023886 C
C
 T
T
 4 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
others(1): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0116
 4 HG01884.hp2
HG02818.hp1
HG02922.hp2
others(1): Show 
HG01884.hp2
HG02818.hp1
HG02922.hp2
HG03130.hp2
 intron_variant MODIFIER c.3104-13649C>T
c.3104-13649C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63023886
chr2:63024001 A
A
 G
G
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.3104-13534A>G
c.3104-13534A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63024001
chr2:63024086 C
C
 T
T
 2 a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0152
a0001c0001t0001g0153
 2 HG02040.hp2
NA19010.hp1
HG02040.hp2
NA19010.hp1
 intron_variant MODIFIER c.3104-13449C>T
c.3104-13449C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63024086
chr2:63024293 A
A
 C
C
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.3104-13242A>C
c.3104-13242A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63024293
chr2:63024312 G
G
 C
C
 1 a0001c0001t0002g0091
a0001c0001t0002g0091
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.3104-13223G>C
c.3104-13223G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63024312
chr2:63024314 C
C
 A
A
 1 a0001c0001t0002g0091
a0001c0001t0002g0091
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.3104-13221C>A
c.3104-13221C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63024314
chr2:63024601 C
C
 CA
CA
 32 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0025
others(29): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0045
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0098
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0177
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0091
a0001c0004t0003g0114
a0002c0002t0001g0012
 32 HG00099.hp2
HG00280.hp2
HG00642.hp2
others(29): Show 
HG00099.hp2
HG00280.hp2
HG00642.hp2
HG00738.hp2
HG01074.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01496.hp1
HG01884.hp1
HG01981.hp2
HG02015.hp1
HG02258.hp1
HG02965.hp1
HG03017.hp1
HG03239.hp1
HG03491.hp2
HG03492.hp1
HG03704.hp1
HG04228.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18972.hp1
NA18984.hp2
NA18999.hp1
NA19010.hp2
NA19068.hp2
NA19077.hp2
NA19079.hp2
NA20300.hp1
 intron_variant MODIFIER c.3104-12912dupA
c.3104-12912dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63024601
chr2:63024601 C
C
 CAA
CAA
 6 a0001c0001t0001g0030
a0001c0001t0001g0034
a0001c0001t0001g0042
others(3): Show 
a0001c0001t0001g0030
a0001c0001t0001g0034
a0001c0001t0001g0042
a0001c0001t0001g0061
a0001c0001t0001g0178
a0001c0001t0001g0185
 6 HG02280.hp1
HG02293.hp2
HG02886.hp2
others(3): Show 
HG02280.hp1
HG02293.hp2
HG02886.hp2
HG03490.hp1
HG03831.hp1
HG03927.hp2
 intron_variant MODIFIER c.3104-12913_3104-12
others(8): Show 
c.3104-12913_3104-12912dupAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63024601
chr2:63024601 CA
CA
 C
C
 78 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(75): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0038
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0057
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0080
a0001c0001t0005g0066
a0001c0003t0001g0187
a0001c0004t0001g0121
a0001c0006t0001g0160
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 78 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(75): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00558.hp2
HG00639.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01175.hp2
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18984.hp1
NA18992.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19077.hp1
NA19240.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.3104-12912delA
c.3104-12912delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63024601
chr2:63024601 CAA
CAA
 C
C
 16 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
others(13): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0138
a0001c0001t0001g0165
a0001c0003t0001g0186
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0131
 16 HG00544.hp1
HG00642.hp1
HG01261.hp2
others(13): Show 
HG00544.hp1
HG00642.hp1
HG01261.hp2
HG01361.hp1
HG01515.hp2
HG02300.hp2
HG02698.hp2
HG02717.hp2
HG03130.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp2
NA18612.hp2
NA18906.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3104-12913_3104-12
others(8): Show 
c.3104-12913_3104-12912delAA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63024601
chr2:63024997 G
G
 GA
GA
 6 a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0034
others(3): Show 
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0098
 6 HG01981.hp2
HG03017.hp1
HG03239.hp1
others(3): Show 
HG01981.hp2
HG03017.hp1
HG03239.hp1
HG03831.hp1
HG03927.hp2
HG04228.hp1
 intron_variant MODIFIER c.3104-12526dupA
c.3104-12526dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63024997
chr2:63025199 A
A
 G
G
 1 a0001c0001t0001g0078
a0001c0001t0001g0078
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.3104-12336A>G
c.3104-12336A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63025199
chr2:63025336 G
G
 A
A
 2 a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0035
a0001c0001t0001g0036
 2 HG01884.hp1
HG02965.hp1
HG01884.hp1
HG02965.hp1
 intron_variant MODIFIER c.3104-12199G>A
c.3104-12199G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63025336
chr2:63025468 A
A
 G
G
 197 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(194): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 197 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(194): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18972.hp1
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3104-12067A>G
c.3104-12067A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63025468
chr2:63025490 T
T
 G
G
 1 a0001c0001t0002g0037
a0001c0001t0002g0037
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.3104-12045T>G
c.3104-12045T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63025490
chr2:63025516 G
G
 A
A
 1 a0002c0002t0001g0005
a0002c0002t0001g0005
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.3104-12019G>A
c.3104-12019G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63025516
chr2:63026081 A
A
 G
G
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.3104-11454A>G
c.3104-11454A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63026081
chr2:63026093 C
C
 G
G
 4 a0001c0001t0001g0075
a0001c0001t0001g0161
a0003c0005t0001g0163
others(1): Show 
a0001c0001t0001g0075
a0001c0001t0001g0161
a0003c0005t0001g0163
a0003c0005t0001g0164
 4 HG01070.hp2
HG01071.hp1
HG01261.hp1
others(1): Show 
HG01070.hp2
HG01071.hp1
HG01261.hp1
NA18972.hp2
 intron_variant MODIFIER c.3104-11442C>G
c.3104-11442C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63026093
chr2:63026243 A
A
 G
G
 2 a0001c0001t0001g0057
a0001c0001t0001g0183
a0001c0001t0001g0057
a0001c0001t0001g0183
 2 HG02109.hp1
HG03453.hp1
HG02109.hp1
HG03453.hp1
 intron_variant MODIFIER c.3104-11292A>G
c.3104-11292A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63026243
chr2:63026294 T
T
 TTG
TTG
 35 a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
others(32): Show 
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0065
a0001c0001t0001g0073
a0001c0001t0001g0122
a0001c0001t0001g0124
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0178
a0001c0001t0001g0192
a0001c0001t0002g0086
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0110
a0001c0001t0004g0089
a0001c0003t0001g0190
a0001c0007t0002g0097
a0002c0002t0001g0004
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0013
a0002c0002t0001g0071
 35 HG00280.hp2
HG01070.hp1
HG01123.hp1
others(32): Show 
HG00280.hp2
HG01070.hp1
HG01123.hp1
HG01167.hp1
HG01175.hp1
HG01257.hp2
HG01258.hp2
HG01361.hp2
HG01884.hp1
HG02015.hp2
HG02040.hp1
HG02293.hp1
HG02293.hp2
HG02698.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03139.hp1
HG03239.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp1
HG03831.hp2
HG04228.hp1
NA18747.hp2
NA18906.hp1
NA18952.hp1
NA18954.hp1
NA18972.hp1
NA18999.hp2
NA19009.hp1
NA19057.hp1
NA19065.hp1
NA19077.hp1
 intron_variant MODIFIER c.3104-11191_3104-11
others(8): Show 
c.3104-11191_3104-11190dupGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63026294
chr2:63026294 T
T
 TTGTG
TTGTG
 13 a0001c0001t0001g0019
a0001c0001t0001g0041
a0001c0001t0001g0047
others(10): Show 
a0001c0001t0001g0019
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0055
a0001c0001t0001g0179
a0001c0001t0002g0082
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0095
a0001c0001t0002g0099
a0001c0001t0002g0176
a0002c0002t0001g0011
 13 HG00544.hp2
HG00639.hp2
HG00738.hp2
others(10): Show 
HG00544.hp2
HG00639.hp2
HG00738.hp2
HG01123.hp2
HG02818.hp2
HG03704.hp1
HG03710.hp1
NA18962.hp1
NA18989.hp2
NA18995.hp1
NA18998.hp1
NA19012.hp1
NA20805.hp2
 intron_variant MODIFIER c.3104-11193_3104-11
others(10): Show 
c.3104-11193_3104-11190dupGTGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63026294
chr2:63026294 T
T
 TTGTGTG
TTGTGTG
 13 a0001c0001t0001g0015
a0001c0001t0001g0027
a0001c0001t0001g0050
others(10): Show 
a0001c0001t0001g0015
a0001c0001t0001g0027
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0117
a0001c0001t0002g0085
a0001c0001t0002g0087
a0001c0001t0002g0100
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0111
a0001c0001t0002g0143
 13 HG00438.hp2
HG00621.hp2
HG01243.hp1
others(10): Show 
HG00438.hp2
HG00621.hp2
HG01243.hp1
HG02071.hp2
HG02135.hp2
HG02165.hp1
HG03139.hp2
NA18963.hp2
NA18992.hp2
NA18995.hp2
NA19010.hp2
NA19068.hp1
NA19079.hp1
 intron_variant MODIFIER c.3104-11195_3104-11
others(12): Show 
c.3104-11195_3104-11190dupGTGTGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63026294
chr2:63026294 T
T
 TTGTGTGT
others(1): Show 
TTGTGTGTG
 9 a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
others(6): Show 
a0001c0001t0002g0080
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0088
a0001c0001t0002g0093
a0001c0001t0002g0096
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0168
 9 HG01071.hp2
HG02145.hp1
HG02300.hp1
others(6): Show 
HG01071.hp2
HG02145.hp1
HG02300.hp1
HG02698.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18984.hp1
NA19012.hp2
 intron_variant MODIFIER c.3104-11197_3104-11
others(14): Show 
c.3104-11197_3104-11190dupGTGTGTGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63026294
chr2:63026294 T
T
 TTGTGTGT
others(3): Show 
TTGTGTGTGTG
 2 a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0101
a0001c0001t0002g0102
 2 HG00558.hp1
HG02155.hp2
HG00558.hp1
HG02155.hp2
 intron_variant MODIFIER c.3104-11199_3104-11
others(16): Show 
c.3104-11199_3104-11190dupGTGTGTGTGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63026294
chr2:63026294 T
T
 TTGTGTGT
others(5): Show 
TTGTGTGTGTGTG
 2 a0001c0001t0001g0051
a0001c0001t0002g0081
a0001c0001t0001g0051
a0001c0001t0002g0081
 2 NA18951.hp1
NA19057.hp2
NA18951.hp1
NA19057.hp2
 intron_variant MODIFIER c.3104-11201_3104-11
others(18): Show 
c.3104-11201_3104-11190dupGTGTGTGTGTGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63026294
chr2:63026294 T
T
 TTGTGTGT
others(7): Show 
TTGTGTGTGTGTGTG
 1 a0001c0001t0002g0037
a0001c0001t0002g0037
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.3104-11203_3104-11
others(20): Show 
c.3104-11203_3104-11190dupGTGTGTGTGTGTGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63026294
chr2:63026294 TTG
TTG
 T
T
 13 a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0054
others(10): Show 
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0054
a0001c0001t0001g0127
a0001c0001t0001g0133
a0001c0001t0001g0148
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0003t0001g0186
a0001c0004t0003g0114
a0002c0002t0001g0005
a0002c0002t0001g0014
a0002c0002t0001g0131
 13 HG00438.hp1
HG01074.hp1
HG01346.hp1
others(10): Show 
HG00438.hp1
HG01074.hp1
HG01346.hp1
HG01496.hp2
HG02559.hp1
HG03927.hp2
NA18612.hp2
NA18951.hp2
NA19005.hp1
NA19009.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.3104-11191_3104-11
others(8): Show 
c.3104-11191_3104-11190delGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63026294
chr2:63026294 TTGTG
TTGTG
 T
T
 44 a0001c0001t0001g0006
a0001c0001t0001g0017
a0001c0001t0001g0018
others(41): Show 
a0001c0001t0001g0006
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0028
a0001c0001t0001g0043
a0001c0001t0001g0063
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0123
a0001c0001t0001g0130
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0169
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0005g0066
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0010t0001g0155
a0004c0009t0001g0197
 44 HG00280.hp1
HG00558.hp2
HG00621.hp1
others(41): Show 
HG00280.hp1
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG01175.hp2
HG01243.hp2
HG01496.hp1
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp2
HG02135.hp1
HG02155.hp1
HG02300.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02922.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03540.hp1
HG03704.hp2
HG03710.hp2
HG03927.hp1
NA18612.hp1
NA18747.hp1
NA18962.hp2
NA18963.hp1
NA18992.hp1
NA18998.hp2
NA19005.hp2
NA19010.hp1
NA19065.hp2
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3104-11193_3104-11
others(10): Show 
c.3104-11193_3104-11190delGTGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63026294
chr2:63026294 TTGTGTG
TTGTGTG
 T
T
 26 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(23): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0057
a0001c0001t0001g0069
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0139
a0001c0001t0001g0142
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0175
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0003t0001g0191
a0003c0005t0001g0163
a0003c0005t0001g0164
 26 HG00099.hp1
HG00639.hp1
HG01070.hp2
others(23): Show 
HG00099.hp1
HG00639.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01515.hp2
HG02109.hp1
HG02145.hp2
HG02165.hp2
HG02258.hp2
HG02970.hp1
HG03017.hp2
HG03195.hp1
HG03471.hp2
HG03540.hp2
HG04228.hp2
NA18960.hp1
NA18989.hp1
NA19043.hp2
NA20805.hp1
 intron_variant MODIFIER c.3104-11195_3104-11
others(12): Show 
c.3104-11195_3104-11190delGTGTGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63026294
chr2:63026294 TTGTGTGT
others(1): Show 
TTGTGTGTG
 T
T
 2 a0001c0001t0001g0161
a0001c0003t0001g0189
a0001c0001t0001g0161
a0001c0003t0001g0189
 2 HG02717.hp2
NA18972.hp2
HG02717.hp2
NA18972.hp2
 intron_variant MODIFIER c.3104-11197_3104-11
others(14): Show 
c.3104-11197_3104-11190delGTGTGTGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63026294
chr2:63026294 TTGTGTGT
others(3): Show 
TTGTGTGTGTG
 T
T
 4 a0001c0001t0001g0044
a0001c0001t0001g0126
a0001c0006t0001g0160
others(1): Show 
a0001c0001t0001g0044
a0001c0001t0001g0126
a0001c0006t0001g0160
a0001c0008t0001g0076
 4 HG00738.hp1
HG02735.hp1
HG03471.hp1
others(1): Show 
HG00738.hp1
HG02735.hp1
HG03471.hp1
NA19043.hp1
 intron_variant MODIFIER c.3104-11199_3104-11
others(16): Show 
c.3104-11199_3104-11190delGTGTGTGTGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63026294
chr2:63026294 TTGTGTGT
others(5): Show 
TTGTGTGTGTGTG
 T
T
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.3104-11201_3104-11
others(18): Show 
c.3104-11201_3104-11190delGTGTGTGTGTGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63026294
chr2:63026294 TTGTGTGT
others(11): Show 
TTGTGTGTGTGTGTGTGTG
 T
T
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.3104-11207_3104-11
others(24): Show 
c.3104-11207_3104-11190delGTGTGTGTGTGTGTGTGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63026294
chr2:63026294 TTGTGTGT
others(13): Show 
TTGTGTGTGTGTGTGTGTGTG
 T
T
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.3104-11209_3104-11
others(26): Show 
c.3104-11209_3104-11190delGTGTGTGTGTGTGTGTGTGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63026294
chr2:63026450 A
A
 C
C
 1 a0001c0001t0001g0016
a0001c0001t0001g0016
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.3104-11085A>C
c.3104-11085A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63026450
chr2:63026459 A
A
 T
T
 38 a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
others(35): Show 
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0004g0089
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0007t0002g0097
 38 HG00544.hp2
HG00558.hp1
HG00639.hp2
others(35): Show 
HG00544.hp2
HG00558.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp2
HG01167.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02698.hp1
HG02809.hp2
HG03710.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18963.hp2
NA18984.hp1
NA18989.hp2
NA18992.hp2
NA18998.hp1
NA19012.hp2
NA19065.hp1
NA19068.hp1
NA19079.hp1
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.3104-11076A>T
c.3104-11076A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63026459
chr2:63026470 T
T
 A
A
 2 a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0001g0118
a0001c0004t0001g0121
 2 HG01167.hp2
HG02809.hp2
HG01167.hp2
HG02809.hp2
 intron_variant MODIFIER c.3104-11065T>A
c.3104-11065T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63026470
chr2:63026745 A
A
 T
T
 197 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(194): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0002g0037
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0143
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0004g0089
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0001g0118
a0001c0004t0001g0121
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0007t0002g0097
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 197 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(194): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18972.hp1
NA18972.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3104-10790A>T
c.3104-10790A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63026745
chr2:63026751 A
A
 T
T
 1 a0001c0001t0001g0156
a0001c0001t0001g0156
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.3104-10784A>T
c.3104-10784A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63026751
chr2:63026921 A
A
 C
C
 2 a0001c0001t0002g0090
a0001c0001t0002g0096
a0001c0001t0002g0090
a0001c0001t0002g0096
 2 HG00639.hp2
HG02698.hp1
HG00639.hp2
HG02698.hp1
 intron_variant MODIFIER c.3104-10614A>C
c.3104-10614A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63026921
chr2:63027108 T
T
 C
C
 1 a0001c0001t0001g0031
a0001c0001t0001g0031
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.3104-10427T>C
c.3104-10427T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63027108
chr2:63027614 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.3104-9921A>G
c.3104-9921A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63027614
chr2:63027654 A
A
 G
G
 1 a0001c0001t0001g0184
a0001c0001t0001g0184
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.3104-9881A>G
c.3104-9881A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63027654
chr2:63027738 CTTATAT
CTTATAT
 C
C
 2 a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0009
a0002c0002t0001g0010
 2 HG03490.hp2
HG03492.hp2
HG03490.hp2
HG03492.hp2
 intron_variant MODIFIER c.3104-9791_3104-978
others(10): Show 
c.3104-9791_3104-9786delTTTATA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63027738
chr2:63028043 G
G
 A
A
 2 a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0035
a0001c0001t0001g0036
 2 HG01884.hp1
HG02965.hp1
HG01884.hp1
HG02965.hp1
 intron_variant MODIFIER c.3104-9492G>A
c.3104-9492G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63028043
chr2:63028349 A
A
 G
G
 4 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0185
others(1): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0185
a0004c0009t0001g0197
 4 HG01243.hp2
HG02886.hp2
HG03195.hp2
others(1): Show 
HG01243.hp2
HG02886.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.3104-9186A>G
c.3104-9186A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63028349
chr2:63028483 T
T
 C
C
 1 a0001c0001t0001g0042
a0001c0001t0001g0042
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.3104-9052T>C
c.3104-9052T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63028483
chr2:63029510 G
G
 A
A
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.3104-8025G>A
c.3104-8025G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63029510
chr2:63029643 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.3104-7892A>G
c.3104-7892A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63029643
chr2:63030048 G
G
 T
T
 13 a0001c0001t0001g0122
a0001c0001t0001g0194
a0002c0002t0001g0004
others(10): Show 
a0001c0001t0001g0122
a0001c0001t0001g0194
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
 13 HG00438.hp1
HG01074.hp2
HG01123.hp1
others(10): Show 
HG00438.hp1
HG01074.hp2
HG01123.hp1
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp1
 intron_variant MODIFIER c.3104-7487G>T
c.3104-7487G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63030048
chr2:63030278 G
G
 A
A
 2 a0001c0001t0001g0024
a0001c0001t0001g0039
a0001c0001t0001g0024
a0001c0001t0001g0039
 2 HG01175.hp1
HG01256.hp2
HG01175.hp1
HG01256.hp2
 intron_variant MODIFIER c.3104-7257G>A
c.3104-7257G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63030278
chr2:63030292 C
C
 A
A
 10 a0001c0001t0001g0019
a0001c0001t0001g0061
a0001c0001t0001g0062
others(7): Show 
a0001c0001t0001g0019
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0117
a0001c0001t0001g0185
a0001c0001t0005g0066
 10 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(7): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02818.hp2
HG02886.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.3104-7243C>A
c.3104-7243C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63030292
chr2:63030408 T
T
 TAC
TAC
 16 a0001c0001t0001g0028
a0001c0001t0001g0048
a0001c0001t0001g0058
others(13): Show 
a0001c0001t0001g0028
a0001c0001t0001g0048
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0137
a0001c0001t0001g0158
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0002g0085
a0001c0001t0002g0103
a0002c0002t0001g0012
 16 HG00642.hp2
HG01123.hp2
HG01167.hp1
others(13): Show 
HG00642.hp2
HG01123.hp2
HG01167.hp1
HG01496.hp1
HG02015.hp1
HG02293.hp1
HG02293.hp2
NA18955.hp2
NA18984.hp2
NA18992.hp1
NA18999.hp1
NA18999.hp2
NA19068.hp2
NA19077.hp2
NA19079.hp1
NA19079.hp2
 intron_variant MODIFIER c.3104-7107_3104-710
others(6): Show 
c.3104-7107_3104-7106dupCA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63030408
chr2:63030410 C
C
 T
T
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.3104-7125C>T
c.3104-7125C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63030410
chr2:63030628 C
C
 T
T
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.3104-6907C>T
c.3104-6907C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63030628
chr2:63030632 C
C
 T
T
 1 a0001c0001t0001g0042
a0001c0001t0001g0042
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.3104-6903C>T
c.3104-6903C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63030632
chr2:63030681 C
C
 T
T
 1 a0001c0001t0001g0124
a0001c0001t0001g0124
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.3104-6854C>T
c.3104-6854C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63030681
chr2:63030734 G
G
 C
C
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.3104-6801G>C
c.3104-6801G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63030734
chr2:63030789 C
C
 CT
CT
 39 a0001c0001t0001g0019
a0001c0001t0001g0026
a0001c0001t0001g0027
others(36): Show 
a0001c0001t0001g0019
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0046
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0117
a0001c0001t0001g0138
a0001c0001t0001g0145
a0001c0001t0002g0037
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0093
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0168
a0001c0001t0004g0089
a0001c0008t0001g0076
a0002c0002t0001g0013
a0004c0009t0001g0197
 39 HG00099.hp2
HG00438.hp2
HG00544.hp1
others(36): Show 
HG00099.hp2
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG01123.hp1
HG01243.hp1
HG01243.hp2
HG01257.hp2
HG01258.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02135.hp2
HG02145.hp1
HG02258.hp2
HG02300.hp1
HG02717.hp1
HG02818.hp2
HG03139.hp2
HG03195.hp1
HG03239.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp2
NA18992.hp2
NA18998.hp1
NA19009.hp1
NA19010.hp2
NA19012.hp2
NA19043.hp1
NA19057.hp2
NA19065.hp1
NA19068.hp1
NA19079.hp1
 intron_variant MODIFIER c.3104-6722dupT
c.3104-6722dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63030789
chr2:63030789 C
C
 CTT
CTT
 5 a0001c0001t0001g0034
a0001c0001t0001g0119
a0001c0001t0001g0120
others(2): Show 
a0001c0001t0001g0034
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0002g0092
a0001c0001t0002g0143
 5 HG00544.hp2
HG02922.hp1
HG02970.hp2
others(2): Show 
HG00544.hp2
HG02922.hp1
HG02970.hp2
HG03831.hp1
NA18963.hp2
 intron_variant MODIFIER c.3104-6723_3104-672
others(6): Show 
c.3104-6723_3104-6722dupTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63030789
chr2:63030789 CT
CT
 C
C
 6 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(3): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0022
a0001c0001t0001g0038
a0001c0001t0001g0139
 6 HG01256.hp1
HG01257.hp1
HG01258.hp1
others(3): Show 
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01515.hp1
HG03491.hp2
NA20805.hp1
 intron_variant MODIFIER c.3104-6722delT
c.3104-6722delT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63030789
chr2:63030789 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 C
C
 1 a0001c0001t0001g0177
a0001c0001t0001g0177
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.3104-6734_3104-672
others(17): Show 
c.3104-6734_3104-6722delTTTTTTTTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63030789
chr2:63030953 A
A
 G
G
 2 a0001c0001t0001g0185
a0004c0009t0001g0197
a0001c0001t0001g0185
a0004c0009t0001g0197
 2 HG01243.hp2
HG02886.hp2
HG01243.hp2
HG02886.hp2
 intron_variant MODIFIER c.3104-6582A>G
c.3104-6582A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63030953
chr2:63031063 C
C
 A
A
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.3104-6472C>A
c.3104-6472C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63031063
chr2:63032291 G
G
 C
C
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.3104-5244G>C
c.3104-5244G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63032291
chr2:63032296 C
C
 T
T
 1 a0002c0002t0001g0013
a0002c0002t0001g0013
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.3104-5239C>T
c.3104-5239C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63032296
chr2:63032366 A
A
 G
G
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.3104-5169A>G
c.3104-5169A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63032366
chr2:63032566 C
C
 CA
CA
 42 a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0026
others(39): Show 
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0068
a0001c0001t0001g0073
a0001c0001t0001g0079
a0001c0001t0001g0098
a0001c0001t0001g0119
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0144
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0194
a0001c0001t0002g0037
a0001c0001t0002g0085
a0001c0001t0002g0087
a0001c0001t0002g0091
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0176
a0001c0001t0005g0066
a0001c0007t0002g0097
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0012
a0002c0002t0001g0071
a0002c0002t0001g0125
 42 HG00099.hp2
HG00280.hp2
HG00438.hp1
others(39): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00738.hp2
HG01070.hp1
HG01074.hp2
HG01175.hp2
HG01361.hp2
HG01515.hp1
HG01981.hp1
HG01981.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02300.hp1
HG02602.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG02970.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03239.hp1
HG03453.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
NA19005.hp1
NA19010.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3104-4943dupA
c.3104-4943dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 INFO_REALIGN_3_PRIME chr2 63032566
chr2:63032739 C
C
 A
A
 2 a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0035
a0001c0001t0001g0036
 2 HG01884.hp1
HG02965.hp1
HG01884.hp1
HG02965.hp1
 intron_variant MODIFIER c.3104-4796C>A
c.3104-4796C>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63032739
chr2:63032746 C
C
 T
T
 111 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(108): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0005g0066
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0001c0004t0003g0114
a0001c0004t0003g0115
a0001c0006t0001g0160
a0001c0008t0001g0076
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
a0004c0009t0001g0197
 111 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(108): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01175.hp2
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18972.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19077.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3104-4789C>T
c.3104-4789C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63032746
chr2:63033261 T
T
 A
A
 1 a0001c0001t0001g0154
a0001c0001t0001g0154
 1 NA19065.hp2
NA19065.hp2
 intron_variant MODIFIER c.3104-4274T>A
c.3104-4274T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63033261
chr2:63033292 G
G
 T
T
 2 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0016
a0001c0001t0001g0017
 2 HG03195.hp2
NA19043.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.3104-4243G>T
c.3104-4243G>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63033292
chr2:63033613 C
C
 G
G
 2 a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0062
a0001c0001t0001g0065
 2 HG03139.hp1
NA19240.hp2
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.3104-3922C>G
c.3104-3922C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63033613
chr2:63033829 C
C
 G
G
 7 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
others(4): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0005g0066
 7 HG02109.hp2
HG02280.hp1
HG02559.hp2
others(4): Show 
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG03098.hp2
HG03139.hp1
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.3104-3706C>G
c.3104-3706C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63033829
chr2:63033874 G
G
 A
A
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.3104-3661G>A
c.3104-3661G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63033874
chr2:63035426 C
C
 T
T
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.3104-2109C>T
c.3104-2109C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63035426
chr2:63035568 C
C
 T
T
 2 a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0171
a0001c0001t0001g0172
 2 HG01346.hp1
NA20752.hp2
HG01346.hp1
NA20752.hp2
 intron_variant MODIFIER c.3104-1967C>T
c.3104-1967C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63035568
chr2:63035601 G
G
 A
A
 2 a0001c0001t0001g0139
a0001c0001t0001g0142
a0001c0001t0001g0139
a0001c0001t0001g0142
 2 HG01257.hp1
HG03017.hp2
HG01257.hp1
HG03017.hp2
 intron_variant MODIFIER c.3104-1934G>A
c.3104-1934G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63035601
chr2:63035735 T
T
 A
A
 2 a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0171
a0001c0001t0001g0172
 2 HG01346.hp1
NA20752.hp2
HG01346.hp1
NA20752.hp2
 intron_variant MODIFIER c.3104-1800T>A
c.3104-1800T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63035735
chr2:63036193 A
A
 G
G
 2 a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0035
a0001c0001t0001g0036
 2 HG01884.hp1
HG02965.hp1
HG01884.hp1
HG02965.hp1
 intron_variant MODIFIER c.3104-1342A>G
c.3104-1342A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63036193
chr2:63036325 A
A
 G
G
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG01256.hp2
HG01256.hp2
 intron_variant MODIFIER c.3104-1210A>G
c.3104-1210A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63036325
chr2:63036343 T
T
 C
C
 1 a0001c0001t0001g0134
a0001c0001t0001g0134
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.3104-1192T>C
c.3104-1192T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63036343
chr2:63036391 C
C
 T
T
 2 a0001c0001t0001g0057
a0001c0001t0001g0183
a0001c0001t0001g0057
a0001c0001t0001g0183
 2 HG02109.hp1
HG03453.hp1
HG02109.hp1
HG03453.hp1
 intron_variant MODIFIER c.3104-1144C>T
c.3104-1144C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63036391
chr2:63036462 G
G
 A
A
 1 a0001c0001t0001g0001
a0001c0001t0001g0001
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.3104-1073G>A
c.3104-1073G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63036462
chr2:63036550 T
T
 A
A
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.3104-985T>A
c.3104-985T>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63036550
chr2:63036796 A
A
 T
T
 12 a0001c0001t0001g0122
a0002c0002t0001g0004
a0002c0002t0001g0005
others(9): Show 
a0001c0001t0001g0122
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
 12 HG00438.hp1
HG01123.hp1
HG01361.hp2
others(9): Show 
HG00438.hp1
HG01123.hp1
HG01361.hp2
HG01496.hp2
HG02602.hp1
HG03490.hp2
HG03492.hp2
HG03831.hp2
NA18612.hp2
NA18954.hp1
NA18995.hp1
NA19077.hp1
 intron_variant MODIFIER c.3104-739A>T
c.3104-739A>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63036796
chr2:63036983 A
A
 C
C
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.3104-552A>C
c.3104-552A>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63036983
chr2:63037037 G
G
 A
A
 1 a0001c0001t0001g0116
a0001c0001t0001g0116
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.3104-498G>A
c.3104-498G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63037037
chr2:63037491 G
G
 A
A
 2 a0001c0001t0001g0019
a0001c0001t0001g0117
a0001c0001t0001g0019
a0001c0001t0001g0117
 2 HG02818.hp2
HG03139.hp2
HG02818.hp2
HG03139.hp2
 intron_variant MODIFIER c.3104-44G>A
c.3104-44G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 19/22 chr2 63037491
chr2:63037933 A
A
 G
G
 7 a0001c0001t0001g0107
a0001c0001t0001g0127
a0001c0001t0001g0156
others(4): Show 
a0001c0001t0001g0107
a0001c0001t0001g0127
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0173
a0001c0001t0001g0196
a0001c0010t0001g0155
 7 HG00280.hp1
HG02155.hp1
HG03704.hp2
others(4): Show 
HG00280.hp1
HG02155.hp1
HG03704.hp2
HG03710.hp2
NA18951.hp2
NA18962.hp2
NA18963.hp1
 intron_variant MODIFIER c.3203+299A>G
c.3203+299A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 20/22 chr2 63037933
chr2:63038226 G
G
 A
A
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.3204-517G>A
c.3204-517G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 20/22 chr2 63038226
chr2:63038245 C
C
 T
T
 1 a0001c0001t0001g0028
a0001c0001t0001g0028
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.3204-498C>T
c.3204-498C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 20/22 chr2 63038245
chr2:63038581 G
G
 A
A
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.3204-162G>A
c.3204-162G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 20/22 chr2 63038581
chr2:63038833 T
T
 G
G
 2 a0001c0001t0001g0106
a0001c0001t0001g0162
a0001c0001t0001g0106
a0001c0001t0001g0162
 2 NA18960.hp1
NA18989.hp1
NA18960.hp1
NA18989.hp1
 intron_variant MODIFIER c.3277+17T>G
c.3277+17T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 chr2 63038833
chr2:63038946 G
G
 A
A
 1 a0002c0002t0001g0195
a0002c0002t0001g0195
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.3277+130G>A
c.3277+130G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 chr2 63038946
chr2:63038994 A
A
 G
G
 1 a0001c0001t0002g0110
a0001c0001t0002g0110
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.3277+178A>G
c.3277+178A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 chr2 63038994
chr2:63039064 A
A
 G
G
 1 a0004c0009t0001g0197
a0004c0009t0001g0197
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.3277+248A>G
c.3277+248A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 chr2 63039064
chr2:63039276 G
G
 A
A
 2 a0001c0001t0001g0019
a0001c0001t0001g0117
a0001c0001t0001g0019
a0001c0001t0001g0117
 2 HG02818.hp2
HG03139.hp2
HG02818.hp2
HG03139.hp2
 intron_variant MODIFIER c.3277+460G>A
c.3277+460G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 chr2 63039276
chr2:63039308 TA
TA
 T
T
 2 a0001c0001t0002g0176
a0001c0007t0002g0097
a0001c0001t0002g0176
a0001c0007t0002g0097
 2 HG01070.hp1
HG03710.hp1
HG01070.hp1
HG03710.hp1
 intron_variant MODIFIER c.3277+495delA
c.3277+495delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63039308
chr2:63039487 T
T
 C
C
 1 a0001c0001t0001g0166
a0001c0001t0001g0166
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.3277+671T>C
c.3277+671T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 chr2 63039487
chr2:63041220 T
T
 C
C
 48 a0001c0001t0001g0006
a0001c0001t0001g0044
a0001c0001t0001g0058
others(45): Show 
a0001c0001t0001g0006
a0001c0001t0001g0044
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0107
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0193
a0001c0001t0001g0196
a0001c0010t0001g0155
a0002c0002t0001g0012
 48 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(45): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00642.hp2
HG01123.hp2
HG01167.hp1
HG01175.hp2
HG01257.hp1
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02293.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02735.hp1
HG02970.hp1
HG03017.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03704.hp2
HG03710.hp2
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18951.hp2
NA18952.hp2
NA18955.hp2
NA18962.hp2
NA18963.hp1
NA18984.hp2
NA18992.hp1
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19057.hp1
NA19065.hp2
NA19068.hp2
NA19077.hp2
NA19079.hp2
 intron_variant MODIFIER c.3277+2404T>C
c.3277+2404T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 chr2 63041220
chr2:63041315 C
C
 G
G
 2 a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0171
a0001c0001t0001g0172
 2 HG01346.hp1
NA20752.hp2
HG01346.hp1
NA20752.hp2
 intron_variant MODIFIER c.3277+2499C>G
c.3277+2499C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 chr2 63041315
chr2:63041496 C
C
 T
T
 1 a0002c0002t0001g0004
a0002c0002t0001g0004
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.3277+2680C>T
c.3277+2680C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 chr2 63041496
chr2:63042131 C
C
 G
G
 1 a0001c0001t0001g0070
a0001c0001t0001g0070
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.3278-2935C>G
c.3278-2935C>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 chr2 63042131
chr2:63042184 CA
CA
 C
C
 2 a0001c0001t0001g0019
a0001c0001t0001g0117
a0001c0001t0001g0019
a0001c0001t0001g0117
 2 HG02818.hp2
HG03139.hp2
HG02818.hp2
HG03139.hp2
 intron_variant MODIFIER c.3278-2881delA
c.3278-2881delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 chr2 63042184
chr2:63042467 T
T
 C
C
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 NA18995.hp2
NA18995.hp2
 intron_variant MODIFIER c.3278-2599T>C
c.3278-2599T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 chr2 63042467
chr2:63042469 T
T
 C
C
 99 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(96): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0044
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0006t0001g0160
a0001c0010t0001g0155
a0002c0002t0001g0004
a0002c0002t0001g0005
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0014
a0002c0002t0001g0071
a0002c0002t0001g0125
a0002c0002t0001g0131
a0002c0002t0001g0195
a0003c0005t0001g0163
a0003c0005t0001g0164
 99 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(96): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02735.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18955.hp2
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18972.hp2
NA18984.hp2
NA18989.hp1
NA18992.hp1
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19065.hp2
NA19068.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3278-2597T>C
c.3278-2597T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 chr2 63042469
chr2:63043058 T
T
 G
G
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.3278-2008T>G
c.3278-2008T>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 chr2 63043058
chr2:63043088 A
A
 G
G
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.3278-1978A>G
c.3278-1978A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 chr2 63043088
chr2:63043598 A
A
 G
G
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.3278-1468A>G
c.3278-1468A>G
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 chr2 63043598
chr2:63043686 G
G
 A
A
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.3278-1380G>A
c.3278-1380G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 chr2 63043686
chr2:63043920 C
C
 CT
CT
 14 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0018
others(11): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0018
a0001c0001t0001g0034
a0001c0001t0001g0056
a0001c0001t0001g0098
a0001c0001t0001g0123
a0001c0001t0001g0139
a0001c0001t0001g0142
a0001c0001t0001g0152
a0001c0001t0001g0167
a0001c0004t0003g0114
a0003c0005t0001g0163
a0004c0009t0001g0197
 14 HG00639.hp1
HG01071.hp1
HG01243.hp2
others(11): Show 
HG00639.hp1
HG01071.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp1
HG01981.hp2
HG02040.hp2
HG02922.hp2
HG03017.hp2
HG03098.hp1
HG03831.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.3278-1095dupT
c.3278-1095dupT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63043920
chr2:63043920 C
C
 CTT
CTT
 20 a0001c0001t0001g0021
a0001c0001t0001g0035
a0001c0001t0001g0038
others(17): Show 
a0001c0001t0001g0021
a0001c0001t0001g0035
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0079
a0001c0001t0001g0116
a0001c0001t0001g0124
a0001c0001t0001g0128
a0001c0001t0001g0144
a0001c0001t0001g0157
a0001c0001t0001g0172
a0001c0001t0001g0184
a0001c0001t0001g0198
a0001c0001t0005g0066
a0001c0003t0001g0187
a0001c0003t0001g0189
a0001c0006t0001g0160
 20 HG00738.hp1
HG01167.hp1
HG01175.hp1
others(17): Show 
HG00738.hp1
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01515.hp1
HG01884.hp1
HG02155.hp1
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG03098.hp2
HG03130.hp2
HG03927.hp2
NA18906.hp2
NA18952.hp2
NA18955.hp2
NA19079.hp2
NA19240.hp1
NA20752.hp2
 intron_variant MODIFIER c.3278-1096_3278-109
others(6): Show 
c.3278-1096_3278-1095dupTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63043920
chr2:63043920 C
C
 CTTT
CTTT
 13 a0001c0001t0001g0057
a0001c0001t0001g0178
a0001c0001t0001g0179
others(10): Show 
a0001c0001t0001g0057
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0183
a0001c0001t0002g0092
a0001c0001t0002g0099
a0001c0001t0002g0102
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0143
a0001c0003t0001g0186
a0001c0003t0001g0188
a0002c0002t0001g0012
 13 HG00544.hp2
HG01123.hp2
HG02109.hp1
others(10): Show 
HG00544.hp2
HG01123.hp2
HG02109.hp1
HG02155.hp2
HG02293.hp2
HG03130.hp1
HG03453.hp1
NA18963.hp2
NA18992.hp2
NA19068.hp1
NA19077.hp2
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.3278-1097_3278-109
others(7): Show 
c.3278-1097_3278-1095dupTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63043920
chr2:63043920 C
C
 CTTTT
CTTTT
 9 a0001c0001t0001g0055
a0001c0001t0001g0120
a0001c0001t0001g0171
others(6): Show 
a0001c0001t0001g0055
a0001c0001t0001g0120
a0001c0001t0001g0171
a0001c0001t0001g0181
a0001c0001t0002g0086
a0001c0001t0002g0093
a0001c0001t0002g0096
a0001c0001t0002g0168
a0001c0003t0001g0190
 9 HG01346.hp1
HG02040.hp1
HG02698.hp1
others(6): Show 
HG01346.hp1
HG02040.hp1
HG02698.hp1
HG02922.hp1
HG03453.hp2
NA18906.hp1
NA18960.hp2
NA18962.hp1
NA19012.hp2
 intron_variant MODIFIER c.3278-1098_3278-109
others(8): Show 
c.3278-1098_3278-1095dupTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63043920
chr2:63043920 C
C
 CTTTTT
CTTTTT
 6 a0001c0001t0001g0169
a0001c0001t0001g0192
a0001c0001t0002g0088
others(3): Show 
a0001c0001t0001g0169
a0001c0001t0001g0192
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0104
 6 HG00639.hp2
HG01071.hp2
HG01257.hp2
others(3): Show 
HG00639.hp2
HG01071.hp2
HG01257.hp2
HG03704.hp1
HG03927.hp1
NA18952.hp1
 intron_variant MODIFIER c.3278-1099_3278-109
others(9): Show 
c.3278-1099_3278-1095dupTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63043920
chr2:63043920 C
C
 CTTTTTT
CTTTTTT
 7 a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0048
others(4): Show 
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0048
a0001c0001t0001g0061
a0001c0001t0001g0067
a0001c0001t0001g0119
a0001c0001t0002g0105
 7 HG01258.hp2
HG02280.hp1
HG02970.hp2
others(4): Show 
HG01258.hp2
HG02280.hp1
HG02970.hp2
HG03540.hp1
HG04228.hp1
NA18972.hp1
NA18999.hp2
 intron_variant MODIFIER c.3278-1100_3278-109
others(10): Show 
c.3278-1100_3278-1095dupTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63043920
chr2:63043920 C
C
 CTTTTTTT
CTTTTTTT
 8 a0001c0001t0001g0047
a0001c0001t0002g0080
a0001c0001t0002g0101
others(5): Show 
a0001c0001t0001g0047
a0001c0001t0002g0080
a0001c0001t0002g0101
a0001c0001t0002g0103
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0004g0089
a0001c0003t0001g0191
 8 HG00558.hp1
HG02015.hp2
HG02145.hp1
others(5): Show 
HG00558.hp1
HG02015.hp2
HG02145.hp1
HG02293.hp1
HG02300.hp1
HG03540.hp2
NA18984.hp1
NA19012.hp1
 intron_variant MODIFIER c.3278-1101_3278-109
others(11): Show 
c.3278-1101_3278-1095dupTTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63043920
chr2:63043920 C
C
 CTTTTTTT
others(1): Show 
CTTTTTTTT
 6 a0001c0001t0001g0063
a0001c0001t0001g0134
a0001c0001t0002g0085
others(3): Show 
a0001c0001t0001g0063
a0001c0001t0001g0134
a0001c0001t0002g0085
a0001c0001t0002g0087
a0001c0001t0002g0111
a0001c0004t0003g0115
 6 HG01243.hp1
HG02109.hp2
HG02135.hp2
others(3): Show 
HG01243.hp1
HG02109.hp2
HG02135.hp2
HG02280.hp2
HG02970.hp1
NA19079.hp1
 intron_variant MODIFIER c.3278-1102_3278-109
others(12): Show 
c.3278-1102_3278-1095dupTTTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63043920
chr2:63043920 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 1 a0001c0001t0002g0082
a0001c0001t0002g0082
 1 NA18998.hp1
NA18998.hp1
 intron_variant MODIFIER c.3278-1104_3278-109
others(14): Show 
c.3278-1104_3278-1095dupTTTTTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63043920
chr2:63043920 C
C
 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 1 a0001c0001t0002g0037
a0001c0001t0002g0037
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.3278-1105_3278-109
others(15): Show 
c.3278-1105_3278-1095dupTTTTTTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63043920
chr2:63043920 C
C
 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 1 a0001c0001t0002g0083
a0001c0001t0002g0083
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.3278-1106_3278-109
others(16): Show 
c.3278-1106_3278-1095dupTTTTTTTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63043920
chr2:63043920 C
C
 CTTTTTTT
others(12): Show 
CTTTTTTTTTTTTTTTTTTT
 1 a0001c0001t0002g0100
a0001c0001t0002g0100
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.3278-1113_3278-109
others(23): Show 
c.3278-1113_3278-1095dupTTTTTTTTTTTTTTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63043920
chr2:63043920 C
C
 T
T
 2 a0001c0001t0001g0019
a0001c0001t0001g0117
a0001c0001t0001g0019
a0001c0001t0001g0117
 2 HG02818.hp2
HG03139.hp2
HG02818.hp2
HG03139.hp2
 intron_variant MODIFIER c.3278-1146C>T
c.3278-1146C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 chr2 63043920
chr2:63043920 CT
CT
 C
C
 26 a0001c0001t0001g0007
a0001c0001t0001g0024
a0001c0001t0001g0025
others(23): Show 
a0001c0001t0001g0007
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0041
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0072
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0137
a0001c0001t0001g0147
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0003c0005t0001g0164
 26 HG00099.hp2
HG00642.hp1
HG00738.hp2
others(23): Show 
HG00099.hp2
HG00642.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG02071.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG03017.hp1
HG03139.hp1
HG03490.hp1
HG03491.hp1
NA18960.hp1
NA18972.hp2
NA18992.hp1
NA19068.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3278-1095delT
c.3278-1095delT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63043920
chr2:63043920 CTT
CTT
 C
C
 17 a0001c0001t0001g0020
a0001c0001t0001g0022
a0001c0001t0001g0023
others(14): Show 
a0001c0001t0001g0020
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0032
a0001c0001t0001g0043
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0129
a0001c0001t0001g0133
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0004t0001g0121
 17 HG00280.hp2
HG00438.hp2
HG00544.hp1
others(14): Show 
HG00280.hp2
HG00438.hp2
HG00544.hp1
HG00621.hp2
HG00642.hp2
HG01884.hp2
HG02145.hp2
HG02300.hp2
HG02559.hp1
HG02698.hp2
HG02809.hp1
HG02809.hp2
HG03491.hp2
HG03492.hp1
NA18995.hp2
NA18999.hp1
NA19005.hp2
 intron_variant MODIFIER c.3278-1096_3278-109
others(6): Show 
c.3278-1096_3278-1095delTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63043920
chr2:63043920 CTTT
CTTT
 C
C
 12 a0001c0001t0001g0015
a0001c0001t0001g0049
a0001c0001t0001g0051
others(9): Show 
a0001c0001t0001g0015
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0060
a0001c0001t0001g0077
a0001c0001t0001g0126
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0177
a0001c0001t0001g0193
a0002c0002t0001g0195
 12 HG00558.hp2
HG00621.hp1
HG02015.hp1
others(9): Show 
HG00558.hp2
HG00621.hp1
HG02015.hp1
HG02165.hp1
HG02735.hp1
HG02886.hp1
HG03195.hp1
HG04228.hp2
NA18747.hp2
NA18984.hp2
NA19009.hp2
NA19057.hp2
 intron_variant MODIFIER c.3278-1097_3278-109
others(7): Show 
c.3278-1097_3278-1095delTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63043920
chr2:63043920 CTTTTT
CTTTTT
 C
C
 9 a0001c0001t0001g0006
a0001c0001t0001g0140
a0001c0001t0001g0175
others(6): Show 
a0001c0001t0001g0006
a0001c0001t0001g0140
a0001c0001t0001g0175
a0001c0004t0001g0118
a0001c0010t0001g0155
a0002c0002t0001g0008
a0002c0002t0001g0009
a0002c0002t0001g0013
a0002c0002t0001g0014
 9 HG01123.hp1
HG01167.hp2
HG01496.hp2
others(6): Show 
HG01123.hp1
HG01167.hp2
HG01496.hp2
HG02165.hp2
HG03492.hp2
HG03704.hp2
NA18612.hp1
NA18954.hp1
NA18998.hp2
 intron_variant MODIFIER c.3278-1099_3278-109
others(9): Show 
c.3278-1099_3278-1095delTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63043920
chr2:63043920 CTTTTTT
CTTTTTT
 C
C
 5 a0001c0001t0001g0156
a0001c0001t0001g0173
a0002c0002t0001g0011
others(2): Show 
a0001c0001t0001g0156
a0001c0001t0001g0173
a0002c0002t0001g0011
a0002c0002t0001g0071
a0002c0002t0001g0125
 5 HG01361.hp2
HG02602.hp1
HG03710.hp2
others(2): Show 
HG01361.hp2
HG02602.hp1
HG03710.hp2
NA18962.hp2
NA18995.hp1
 intron_variant MODIFIER c.3278-1100_3278-109
others(10): Show 
c.3278-1100_3278-1095delTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63043920
chr2:63043920 CTTTTTTT
others(1): Show 
CTTTTTTTT
 C
C
 7 a0001c0001t0001g0044
a0001c0001t0001g0046
a0001c0001t0001g0122
others(4): Show 
a0001c0001t0001g0044
a0001c0001t0001g0046
a0001c0001t0001g0122
a0001c0001t0001g0135
a0001c0001t0001g0174
a0001c0001t0001g0194
a0002c0002t0001g0005
 7 HG00438.hp1
HG01074.hp2
HG02135.hp1
others(4): Show 
HG00438.hp1
HG01074.hp2
HG02135.hp1
HG03471.hp1
HG03471.hp2
NA19009.hp1
NA19077.hp1
 intron_variant MODIFIER c.3278-1102_3278-109
others(12): Show 
c.3278-1102_3278-1095delTTTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63043920
chr2:63043920 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 C
C
 1 a0001c0001t0002g0095
a0001c0001t0002g0095
 1 NA18989.hp2
NA18989.hp2
 intron_variant MODIFIER c.3278-1104_3278-109
others(14): Show 
c.3278-1104_3278-1095delTTTTTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63043920
chr2:63043920 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 C
C
 1 a0001c0007t0002g0097
a0001c0007t0002g0097
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.3278-1105_3278-109
others(15): Show 
c.3278-1105_3278-1095delTTTTTTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63043920
chr2:63043920 CTTTTTTT
others(8): Show 
CTTTTTTTTTTTTTTT
 C
C
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.3278-1109_3278-109
others(19): Show 
c.3278-1109_3278-1095delTTTTTTTTTTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63043920
chr2:63043920 CTTTTTTT
others(15): Show 
CTTTTTTTTTTTTTTTTTTTTTT
 C
C
 1 a0001c0001t0002g0110
a0001c0001t0002g0110
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.3278-1116_3278-109
others(26): Show 
c.3278-1116_3278-1095delTTTTTTTTTTTTTTTTTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63043920
chr2:63043920 CTTTTTTT
others(18): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTT
 C
C
 1 a0001c0001t0002g0176
a0001c0001t0002g0176
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.3278-1119_3278-109
others(29): Show 
c.3278-1119_3278-1095delTTTTTTTTTTTTTTTTTTTTTTTTT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63043920
chr2:63044082 G
G
 C
C
 6 a0001c0001t0001g0015
a0001c0001t0001g0049
a0001c0001t0001g0050
others(3): Show 
a0001c0001t0001g0015
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
 6 HG00438.hp2
HG00621.hp2
HG02165.hp1
others(3): Show 
HG00438.hp2
HG00621.hp2
HG02165.hp1
NA18747.hp2
NA18995.hp2
NA19057.hp2
 intron_variant MODIFIER c.3278-984G>C
c.3278-984G>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 chr2 63044082
chr2:63044261 C
C
 CA
CA
 29 a0001c0001t0001g0019
a0001c0001t0001g0038
a0001c0001t0001g0044
others(26): Show 
a0001c0001t0001g0019
a0001c0001t0001g0038
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0063
a0001c0001t0001g0067
a0001c0001t0001g0072
a0001c0001t0001g0098
a0001c0001t0001g0117
a0001c0001t0001g0119
a0001c0001t0001g0134
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0148
a0001c0001t0001g0154
a0001c0001t0001g0194
a0001c0001t0002g0083
a0001c0001t0002g0095
a0001c0003t0001g0186
a0001c0003t0001g0187
a0001c0003t0001g0188
a0001c0003t0001g0189
a0001c0003t0001g0190
a0001c0003t0001g0191
a0004c0009t0001g0197
 29 HG00544.hp1
HG00621.hp1
HG00642.hp1
others(26): Show 
HG00544.hp1
HG00621.hp1
HG00642.hp1
HG01074.hp2
HG01175.hp2
HG01243.hp2
HG01257.hp1
HG01515.hp1
HG01981.hp2
HG02109.hp2
HG02145.hp2
HG02717.hp2
HG02818.hp2
HG02970.hp1
HG02970.hp2
HG03130.hp1
HG03139.hp2
HG03471.hp1
HG03540.hp1
HG03540.hp2
NA18906.hp1
NA18955.hp1
NA18972.hp1
NA18989.hp2
NA18998.hp2
NA19009.hp2
NA19065.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.3278-787dupA
c.3278-787dupA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63044261
chr2:63044261 CA
CA
 C
C
 9 a0001c0001t0001g0002
a0001c0001t0001g0024
a0001c0001t0001g0025
others(6): Show 
a0001c0001t0001g0002
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0056
a0001c0001t0001g0069
a0001c0001t0001g0141
a0001c0001t0001g0150
a0001c0004t0003g0115
 9 HG01074.hp1
HG01256.hp1
HG01256.hp2
others(6): Show 
HG01074.hp1
HG01256.hp1
HG01256.hp2
HG01515.hp2
HG02258.hp1
HG02280.hp2
NA18747.hp1
NA19057.hp1
NA20752.hp1
 intron_variant MODIFIER c.3278-787delA
c.3278-787delA
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 INFO_REALIGN_3_PRIME chr2 63044261
chr2:63044333 T
T
 C
C
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.3278-733T>C
c.3278-733T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 chr2 63044333
chr2:63044555 T
T
 C
C
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 NA18952.hp1
NA18952.hp1
 intron_variant MODIFIER c.3278-511T>C
c.3278-511T>C
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 chr2 63044555
chr2:63044808 C
C
 T
T
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.3278-258C>T
c.3278-258C>T
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 21/22 chr2 63044808
chr2:63045195 G
G
 A
A
 1 a0001c0008t0001g0076
a0001c0008t0001g0076
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.3392+15G>A
c.3392+15G>A
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 22/22 chr2 63045195
chr2:63045233 GAAGTGTG
others(4): Show 
GAAGTGTGCGGA
 G
G
 2 a0002c0002t0001g0005
a0002c0002t0001g0131
a0002c0002t0001g0005
a0002c0002t0001g0131
 2 HG00438.hp1
NA18612.hp2
HG00438.hp1
NA18612.hp2
 intron_variant MODIFIER c.3392+58_3392+68del
others(11): Show 
c.3392+58_3392+68delGTGCGGAAAGT
EHBP1 ENSG00000115504.15 transcript ENST00000431489.6 protein_coding 22/22 INFO_REALIGN_3_PRIME chr2 63045233

  • 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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