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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   BCHE_chr3_165767904_165842423  BCHE_chr3_165767904_165842423 (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 590
ensemblid ENSG00000114200.10
hgncid 983
symbol BCHE
name butyrylcholinesterase
refseq_nuc NM_000055.4
refseq_prot NP_000046.1
ensembl_nuc ENST00000264381.8
ensembl_prot ENSP00000264381.3
mane_status MANE Select
chr chr3
start 165772904
end 165837423
strand -
ver v1.2
region chr3:165772904-165837423
region5000 chr3:165767904-165842423
regionname0 BCHE_chr3_165772904_165837423
regionname5000 BCHE_chr3_165767904_165842423

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/0 602 243 76 47 97 7 15 71 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0002 0/1 602 52 7 4 31 1 8 25 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0003 0/0 602 5 4 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0004 0/0 602 1 0 0 0 0 1 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0005 0/0 602 1 0 0 1 0 0 1 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0006 0/0 602 1 0 0 1 0 0 1 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0007 0/0 602 1 1 0 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/0 1809 242 76 47 96 7 15 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
c0002 0/1 1809 52 7 4 31 1 8 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
c0003 0/0 1809 5 4 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
c0004 0/0 1809 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
c0005 0/0 1809 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
c0006 0/0 1809 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
c0007 0/0 1809 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
c0008 0/0 1809 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 598 167 26 39 86 4 12 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
t0002 0/0 598 66 25 4 31 1 5 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
t0003 1/0 597 42 21 4 12 2 2 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
t0004 0/1 598 11 1 3 0 1 5 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
t0005 0/0 598 5 4 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
t0006 0/0 598 5 4 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
t0007 0/0 597 3 3 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
t0008 0/0 598 3 3 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
t0009 0/0 597 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
t0010 0/0 598 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 13 0 5 7 1 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0002 0/0 5 0 3 0 0 2 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0003 0/0 3 0 0 0 1 2 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0004 0/0 3 0 0 3 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0005 0/0 3 3 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0006 0/0 3 3 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0007 0/0 3 0 0 3 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0008 0/0 3 0 3 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0009 0/0 3 0 2 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0010 0/0 3 3 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0011 0/0 3 3 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0012 0/0 3 3 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0013 0/0 2 2 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0014 0/0 2 2 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0015 0/0 2 0 0 2 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0016 0/0 2 0 0 0 2 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0017 0/0 2 0 0 2 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0018 0/0 2 2 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0019 0/0 2 2 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0020 0/0 2 0 0 2 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0021 0/0 2 0 0 2 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0022 0/0 2 0 0 2 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0023 0/0 2 0 0 2 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0024 0/0 2 0 0 2 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0025 0/0 2 0 2 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0026 0/0 2 0 2 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0027 0/0 2 0 0 2 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0028 0/0 2 0 2 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0029 0/0 2 0 0 2 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0030 0/0 2 2 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0031 0/0 2 1 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0032 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0033 0/1 1 0 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0034 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0035 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0036 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0037 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0038 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0039 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0040 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0041 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0042 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0043 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0044 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0045 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0046 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0047 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0048 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0049 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0050 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0051 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0052 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0053 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0054 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0055 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0056 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0057 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0058 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0059 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0060 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0061 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0062 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0063 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0064 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0065 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0066 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0067 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0068 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0069 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0070 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0071 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0072 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0073 1/0 1 0 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0074 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0075 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0076 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0077 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0078 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0079 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0080 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0081 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0082 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0083 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0084 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0085 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0086 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0087 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0088 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0089 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0090 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0091 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0092 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0093 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0094 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0095 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0096 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0097 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0098 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0099 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0100 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0101 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0102 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0103 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0104 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0105 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0106 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0107 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0108 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0109 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0110 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0111 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0112 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0113 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0114 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0115 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0116 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0117 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0118 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0119 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0120 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0121 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0122 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0123 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0124 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0125 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0126 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0127 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0128 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0129 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0130 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0131 0/0 1 0 0 0 1 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0132 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0133 0/0 1 0 0 0 1 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0134 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0135 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0136 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0137 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0138 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0139 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0140 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0141 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0142 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0143 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0144 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0145 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0146 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0147 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0148 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0149 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0150 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0151 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0152 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0153 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0154 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0155 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0156 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0157 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0158 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0159 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0160 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0161 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0162 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0163 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0164 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0165 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0166 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0167 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0168 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0169 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0170 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0171 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0172 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0173 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0174 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0175 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0176 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0177 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0178 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0179 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0180 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0181 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0182 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0183 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0184 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0185 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0186 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0187 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0188 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0189 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0190 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0191 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0192 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0193 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0194 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0195 0/0 1 0 0 0 1 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0196 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0197 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0198 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0199 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0200 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0201 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0202 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0203 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0204 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0205 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0206 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0207 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0208 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0209 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0210 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0211 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0212 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0213 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0214 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0215 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0216 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0217 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0218 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0219 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0220 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0221 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0222 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0223 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0224 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0225 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0226 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0227 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0228 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0229 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0230 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0231 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0232 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0233 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0234 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0235 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0236 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0237 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0238 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0239 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0240 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0241 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0242 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0243 0/0 1 0 0 0 1 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0244 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0245 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0246 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0247 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0248 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
g0249 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/0 1809 242 76 47 96 7 15 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0001c0005 0/0 1809 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0002c0002 0/1 1809 52 7 4 31 1 8 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0003c0003 0/0 1809 5 4 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0004c0004 0/0 1809 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0005c0007 0/0 1809 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0006c0006 0/0 1809 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0007c0008 0/0 1809 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 2406 165 26 39 84 4 12 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0001c0001t0002 0/0 2406 27 22 3 0 1 1 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0001c0001t0003 1/0 2405 41 20 4 12 2 2 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0001c0001t0006 0/0 2406 5 4 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0001c0001t0007 0/0 2405 3 3 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0001c0001t0010 0/0 2406 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0001c0005t0001 0/0 2406 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0002c0002t0002 0/0 2406 38 3 1 30 0 4 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0002c0002t0004 0/1 2406 10 1 3 0 1 4 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0002c0002t0008 0/0 2406 3 3 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0002c0002t0009 0/0 2405 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0003c0003t0005 0/0 2406 5 4 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0004c0004t0004 0/0 2406 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0005c0007t0001 0/0 2406 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0006c0006t0002 0/0 2406 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423
a0007c0008t0003 0/0 2405 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE copy fasta chr3 165767904 165842423

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 0/0 13 0 5 7 1 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0007 0/0 3 0 0 3 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0008 0/0 3 0 3 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0009 0/0 3 0 2 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0010 0/0 3 3 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0011 0/0 3 3 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0013 0/0 2 2 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0014 0/0 2 2 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0020 0/0 2 0 0 2 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0021 0/0 2 0 0 2 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0022 0/0 2 0 0 2 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0023 0/0 2 0 0 2 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0024 0/0 2 0 0 2 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0025 0/0 2 0 2 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0026 0/0 2 0 2 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0027 0/0 2 0 0 2 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0028 0/0 2 0 2 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0029 0/0 2 0 0 2 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0036 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0037 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0044 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0047 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0048 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0049 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0050 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0051 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0058 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0059 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0070 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0071 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0113 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0122 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0123 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0124 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0125 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0126 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0127 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0128 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0129 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0130 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0131 0/0 1 0 0 0 1 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0132 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0133 0/0 1 0 0 0 1 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0141 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0143 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0144 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0145 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0146 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0147 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0148 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0149 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0150 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0151 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0152 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0153 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0154 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0155 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0156 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0157 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0158 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0159 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0160 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0161 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0162 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0163 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0164 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0166 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0167 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0168 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0169 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0170 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0171 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0172 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0173 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0174 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0175 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0176 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0177 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0178 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0179 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0180 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0181 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0182 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0183 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0184 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0185 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0187 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0188 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0189 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0190 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0191 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0192 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0193 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0194 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0195 0/0 1 0 0 0 1 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0196 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0197 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0198 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0199 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0200 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0201 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0202 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0203 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0204 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0205 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0206 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0207 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0208 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0209 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0210 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0211 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0212 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0213 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0214 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0215 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0216 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0217 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0218 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0219 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0220 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0221 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0222 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0223 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0229 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0230 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0231 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0232 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0233 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0234 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0235 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0001g0236 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0002g0005 0/0 3 3 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0002g0012 0/0 3 3 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0002g0019 0/0 2 2 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0002g0030 0/0 2 2 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0002g0045 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0002g0114 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0002g0115 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0002g0116 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0002g0117 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0002g0118 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0002g0238 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0002g0239 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0002g0240 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0002g0241 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0002g0242 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0002g0243 0/0 1 0 0 0 1 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0002g0244 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0002g0245 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0002g0246 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0002g0247 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0002g0248 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0006 0/0 3 3 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0016 0/0 2 0 0 0 2 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0031 0/0 2 1 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0038 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0039 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0040 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0042 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0043 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0046 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0052 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0053 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0072 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0073 1/0 1 0 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0074 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0075 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0076 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0077 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0078 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0079 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0080 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0081 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0082 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0083 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0084 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0085 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0086 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0087 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0088 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0089 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0090 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0091 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0092 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0093 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0134 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0138 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0139 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0003g0140 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0006g0224 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0006g0225 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0006g0226 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0006g0227 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0006g0228 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0007g0135 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0007g0136 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0007g0137 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0001t0010g0249 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0001c0005t0001g0142 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0004 0/0 3 0 0 3 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0015 0/0 2 0 0 2 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0017 0/0 2 0 0 2 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0035 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0054 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0055 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0056 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0057 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0060 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0061 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0062 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0063 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0064 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0065 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0066 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0067 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0068 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0069 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0095 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0096 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0097 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0098 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0099 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0100 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0101 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0102 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0104 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0105 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0106 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0107 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0108 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0109 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0110 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0002g0165 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0004g0002 0/0 5 0 3 0 0 2 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0004g0003 0/0 3 0 0 0 1 2 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0004g0033 0/1 1 0 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0004g0034 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0008g0119 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0008g0120 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0008g0121 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0002c0002t0009g0103 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0003c0003t0005g0018 0/0 2 2 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0003c0003t0005g0111 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0003c0003t0005g0112 0/0 1 0 1 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0003c0003t0005g0237 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0004c0004t0004g0032 0/0 1 0 0 0 0 1 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0005c0007t0001g0186 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0006c0006t0002g0094 0/0 1 0 0 1 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
a0007c0008t0003g0041 0/0 1 1 0 0 0 0 BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0001 t0001 g0001 EUR GBR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG00099 hp2 a0001 c0001 t0001 g0195 EUR GBR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG00140 hp1 a0001 c0001 t0001 g0133 EUR GBR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG00140 hp2 a0001 c0001 t0002 g0243 EUR GBR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG00423 hp1 a0001 c0001 t0003 g0082 EAS CHS BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG00423 hp2 a0001 c0001 t0001 g0219 EAS CHS BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG00544 hp1 a0002 c0002 t0002 g0110 EAS CHS BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG00544 hp2 a0001 c0001 t0001 g0001 EAS CHS BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG00609 hp1 a0001 c0001 t0001 g0123 EAS CHS BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG00609 hp2 a0002 c0002 t0002 g0066 EAS CHS BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG00621 hp1 a0001 c0001 t0001 g0204 EAS CHS BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG00621 hp2 a0002 c0002 t0002 g0104 EAS CHS BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG00639 hp1 a0001 c0001 t0001 g0025 AMR PUR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG00639 hp2 a0001 c0001 t0001 g0001 AMR PUR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG00642 hp1 a0001 c0001 t0001 g0025 AMR PUR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG00642 hp2 a0001 c0001 t0001 g0128 AMR PUR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG00673 hp1 a0001 c0001 t0001 g0157 EAS CHS BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG00673 hp2 a0001 c0001 t0001 g0200 EAS CHS BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG00738 hp1 a0001 c0001 t0001 g0193 AMR PUR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG00738 hp2 a0001 c0001 t0001 g0218 AMR PUR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01069 hp1 a0001 c0001 t0003 g0080 AMR PUR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01069 hp2 a0001 c0001 t0001 g0001 AMR PUR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01074 hp1 a0001 c0001 t0001 g0059 AMR PUR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01074 hp2 a0001 c0001 t0001 g0185 AMR PUR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01106 hp1 a0001 c0001 t0001 g0129 AMR PUR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01106 hp2 a0001 c0001 t0002 g0244 AMR PUR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01167 hp1 a0001 c0001 t0001 g0058 AMR PUR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01167 hp2 a0001 c0001 t0001 g0233 AMR PUR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01169 hp1 a0001 c0001 t0001 g0172 AMR PUR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01169 hp2 a0001 c0001 t0001 g0234 AMR PUR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01175 hp1 a0001 c0001 t0001 g0009 AMR PUR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01175 hp2 a0001 c0001 t0001 g0156 AMR PUR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01192 hp1 a0001 c0001 t0001 g0191 AMR PUR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01192 hp2 a0001 c0001 t0001 g0028 AMR PUR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01243 hp1 a0001 c0001 t0003 g0053 AMR PUR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01243 hp2 a0001 c0001 t0001 g0127 AMR PUR BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01255 hp1 a0001 c0001 t0003 g0031 AMR CLM BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01255 hp2 a0001 c0001 t0001 g0235 AMR CLM BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01256 hp1 a0002 c0002 t0004 g0002 AMR CLM BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01256 hp2 a0001 c0001 t0001 g0169 AMR CLM BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01257 hp1 a0001 c0001 t0001 g0008 AMR CLM BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01257 hp2 a0001 c0001 t0001 g0026 AMR CLM BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01258 hp1 a0001 c0001 t0001 g0026 AMR CLM BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01258 hp2 a0002 c0002 t0004 g0002 AMR CLM BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01261 hp1 a0001 c0001 t0001 g0177 AMR CLM BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01261 hp2 a0001 c0001 t0003 g0074 AMR CLM BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01346 hp1 a0001 c0001 t0001 g0070 AMR CLM BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01346 hp2 a0001 c0001 t0001 g0008 AMR CLM BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01358 hp1 a0001 c0001 t0001 g0001 AMR CLM BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01358 hp2 a0001 c0001 t0002 g0247 AMR CLM BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01361 hp1 a0001 c0001 t0001 g0001 AMR CLM BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01361 hp2 a0001 c0001 t0002 g0245 AMR CLM BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01433 hp1 a0001 c0001 t0001 g0175 AMR CLM BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01433 hp2 a0001 c0001 t0006 g0226 AMR CLM BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01496 hp1 a0001 c0001 t0001 g0176 AMR CLM BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01496 hp2 a0003 c0003 t0005 g0112 AMR CLM BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01515 hp1 a0001 c0001 t0001 g0131 EUR IBS BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01515 hp2 a0001 c0001 t0003 g0016 EUR IBS BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01517 hp1 a0001 c0001 t0003 g0016 EUR IBS BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01517 hp2 a0002 c0002 t0004 g0003 EUR IBS BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01891 hp1 a0001 c0001 t0002 g0030 AFR ACB BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01891 hp2 a0001 c0001 t0001 g0141 AFR ACB BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01934 hp1 a0001 c0001 t0001 g0009 AMR PEL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01934 hp2 a0002 c0002 t0004 g0002 AMR PEL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01943 hp1 a0001 c0001 t0001 g0008 AMR PEL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01943 hp2 a0001 c0001 t0001 g0205 AMR PEL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01978 hp1 a0001 c0001 t0001 g0178 AMR PEL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG01978 hp2 a0002 c0002 t0002 g0062 AMR PEL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02015 hp1 a0001 c0001 t0001 g0221 EAS KHV BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02015 hp2 a0001 c0001 t0001 g0181 EAS KHV BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02040 hp1 a0002 c0002 t0002 g0099 EAS KHV BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02040 hp2 a0001 c0001 t0001 g0180 EAS KHV BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02055 hp1 a0002 c0002 t0008 g0120 AFR ACB BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02055 hp2 a0003 c0003 t0005 g0237 AFR ACB BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02056 hp1 a0001 c0001 t0001 g0158 EAS KHV BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02056 hp2 a0002 c0002 t0002 g0109 EAS KHV BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02074 hp1 a0001 c0001 t0001 g0215 EAS KHV BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02074 hp2 a0001 c0001 t0001 g0154 EAS KHV BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02080 hp1 a0001 c0001 t0001 g0216 EAS KHV BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02080 hp2 a0001 c0001 t0001 g0236 EAS KHV BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02083 hp1 a0001 c0001 t0001 g0203 EAS KHV BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02083 hp2 a0001 c0001 t0001 g0173 EAS KHV BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02129 hp1 a0001 c0001 t0001 g0174 EAS KHV BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02129 hp2 a0001 c0001 t0001 g0044 EAS KHV BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02145 hp1 a0001 c0001 t0001 g0011 AFR ACB BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02145 hp2 a0001 c0001 t0001 g0050 AFR ACB BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02155 hp1 a0001 c0001 t0001 g0122 EAS CDX BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02155 hp2 a0001 c0001 t0001 g0021 EAS CDX BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02165 hp1 a0002 c0002 t0002 g0035 EAS CDX BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02165 hp2 a0001 c0001 t0001 g0021 EAS CDX BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02258 hp1 a0001 c0001 t0001 g0013 AFR ACB BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02258 hp2 a0002 c0002 t0008 g0121 AFR ACB BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02273 hp1 a0001 c0001 t0001 g0001 AMR PEL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02273 hp2 a0001 c0001 t0001 g0028 AMR PEL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02280 hp1 a0001 c0001 t0003 g0088 AFR ACB BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02280 hp2 a0001 c0001 t0002 g0248 AFR ACB BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02293 hp1 a0001 c0001 t0001 g0150 AMR PEL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02293 hp2 a0001 c0001 t0001 g0198 AMR PEL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02451 hp1 a0001 c0001 t0002 g0117 AFR ACB BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02451 hp2 a0001 c0001 t0001 g0130 AFR ACB BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02523 hp1 a0001 c0001 t0001 g0222 EAS KHV BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02523 hp2 a0001 c0001 t0001 g0001 EAS KHV BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02572 hp1 a0007 c0008 t0003 g0041 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02572 hp2 a0002 c0002 t0002 g0054 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02602 hp1 a0002 c0002 t0002 g0061 SAS PJL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02602 hp2 a0002 c0002 t0004 g0002 SAS PJL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02615 hp1 a0001 c0001 t0002 g0019 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02615 hp2 a0003 c0003 t0005 g0018 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02622 hp1 a0001 c0001 t0001 g0048 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02622 hp2 a0001 c0001 t0003 g0046 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02647 hp1 a0001 c0001 t0002 g0118 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02647 hp2 a0001 c0001 t0001 g0051 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02683 hp1 a0001 c0001 t0001 g0125 SAS PJL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02683 hp2 a0002 c0002 t0002 g0065 SAS PJL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02717 hp1 a0001 c0001 t0001 g0049 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02717 hp2 a0001 c0001 t0002 g0116 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02723 hp1 a0001 c0001 t0002 g0238 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02723 hp2 a0001 c0001 t0003 g0052 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02735 hp1 a0004 c0004 t0004 g0032 SAS PJL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02735 hp2 a0001 c0001 t0001 g0188 SAS PJL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02738 hp1 a0002 c0002 t0004 g0002 SAS PJL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02738 hp2 a0001 c0001 t0001 g0145 SAS PJL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02809 hp1 a0001 c0001 t0001 g0124 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02809 hp2 a0001 c0001 t0003 g0039 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02818 hp1 a0001 c0001 t0002 g0114 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02818 hp2 a0001 c0001 t0003 g0006 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02886 hp1 a0001 c0001 t0010 g0249 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02886 hp2 a0001 c0001 t0003 g0040 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02895 hp1 a0001 c0001 t0006 g0224 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02895 hp2 a0001 c0001 t0003 g0038 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02896 hp1 a0001 c0001 t0001 g0011 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02896 hp2 a0001 c0001 t0001 g0184 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02897 hp1 a0001 c0001 t0001 g0011 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02897 hp2 a0001 c0001 t0006 g0228 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02922 hp1 a0001 c0001 t0006 g0225 AFR ESN BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02922 hp2 a0001 c0001 t0002 g0005 AFR ESN BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02965 hp1 a0001 c0001 t0001 g0013 AFR ESN BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02965 hp2 a0002 c0002 t0008 g0119 AFR ESN BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02970 hp1 a0001 c0001 t0003 g0140 AFR ESN BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02970 hp2 a0001 c0001 t0007 g0137 AFR ESN BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02976 hp1 a0003 c0003 t0005 g0018 AFR ESN BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02976 hp2 a0001 c0001 t0002 g0012 AFR ESN BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03041 hp1 a0001 c0001 t0002 g0240 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03041 hp2 a0001 c0001 t0001 g0047 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03098 hp1 a0001 c0001 t0002 g0019 AFR MSL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03098 hp2 a0001 c0001 t0001 g0232 AFR MSL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03130 hp1 a0001 c0001 t0002 g0242 AFR ESN BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03130 hp2 a0001 c0001 t0001 g0010 AFR ESN BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03195 hp1 a0001 c0001 t0002 g0012 AFR ESN BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03195 hp2 a0001 c0001 t0003 g0006 AFR ESN BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03209 hp1 a0001 c0001 t0003 g0134 AFR MSL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03209 hp2 a0001 c0001 t0002 g0030 AFR MSL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03225 hp1 a0001 c0001 t0003 g0089 AFR MSL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03225 hp2 a0001 c0001 t0006 g0227 AFR MSL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03239 hp1 a0001 c0001 t0001 g0153 SAS PJL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03239 hp2 a0002 c0002 t0002 g0063 SAS PJL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03486 hp1 a0001 c0001 t0003 g0081 AFR MSL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03486 hp2 a0001 c0001 t0001 g0014 AFR MSL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03490 hp1 a0001 c0001 t0002 g0239 SAS PJL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03490 hp2 a0001 c0001 t0001 g0159 SAS PJL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03516 hp1 a0001 c0001 t0003 g0076 AFR ESN BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03516 hp2 a0001 c0001 t0002 g0005 AFR ESN BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03540 hp1 a0001 c0001 t0003 g0031 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03540 hp2 a0002 c0002 t0004 g0034 AFR GWD BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03654 hp1 a0001 c0001 t0001 g0189 SAS PJL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03654 hp2 a0002 c0002 t0004 g0003 SAS PJL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03669 hp1 a0001 c0001 t0001 g0194 SAS PJL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03669 hp2 a0001 c0001 t0001 g0036 SAS PJL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03704 hp1 a0001 c0001 t0001 g0229 SAS PJL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03704 hp2 a0001 c0001 t0001 g0171 SAS PJL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03927 hp1 a0002 c0002 t0002 g0064 SAS BEB BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03927 hp2 a0002 c0002 t0004 g0003 SAS BEB BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG04184 hp1 a0001 c0001 t0003 g0092 SAS BEB BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG04184 hp2 a0001 c0001 t0001 g0163 SAS BEB BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18522 hp1 a0001 c0001 t0002 g0005 AFR YRI BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18522 hp2 a0001 c0001 t0003 g0006 AFR YRI BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18747 hp1 a0001 c0001 t0001 g0001 EAS CHB BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18747 hp2 a0001 c0001 t0001 g0230 EAS CHB BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18906 hp1 a0001 c0001 t0003 g0138 AFR YRI BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18906 hp2 a0001 c0001 t0001 g0010 AFR YRI BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18939 hp1 a0001 c0001 t0001 g0187 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18939 hp2 a0001 c0001 t0003 g0078 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18941 hp1 a0001 c0001 t0001 g0183 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18941 hp2 a0002 c0002 t0002 g0069 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18944 hp1 a0001 c0001 t0001 g0164 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18944 hp2 a0002 c0002 t0002 g0004 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18945 hp1 a0001 c0001 t0001 g0023 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18945 hp2 a0002 c0002 t0002 g0004 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18946 hp1 a0002 c0002 t0002 g0056 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18946 hp2 a0001 c0001 t0001 g0162 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18950 hp1 a0001 c0001 t0003 g0090 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18950 hp2 a0002 c0002 t0002 g0017 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18952 hp1 a0001 c0001 t0001 g0231 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18952 hp2 a0001 c0001 t0001 g0024 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18956 hp1 a0002 c0002 t0002 g0102 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18956 hp2 a0001 c0001 t0001 g0022 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18957 hp1 a0001 c0001 t0001 g0196 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18957 hp2 a0001 c0005 t0001 g0142 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18960 hp1 a0001 c0001 t0001 g0009 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18960 hp2 a0001 c0001 t0003 g0087 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18961 hp1 a0001 c0001 t0001 g0144 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18961 hp2 a0002 c0002 t0009 g0103 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18962 hp1 a0002 c0002 t0002 g0015 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18962 hp2 a0001 c0001 t0001 g0001 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18965 hp1 a0002 c0002 t0002 g0100 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18965 hp2 a0001 c0001 t0001 g0007 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18966 hp1 a0001 c0001 t0001 g0001 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18966 hp2 a0001 c0001 t0001 g0027 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18968 hp1 a0002 c0002 t0002 g0107 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18968 hp2 a0005 c0007 t0001 g0186 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18971 hp1 a0001 c0001 t0001 g0167 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18971 hp2 a0001 c0001 t0001 g0211 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18973 hp1 a0001 c0001 t0001 g0029 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18973 hp2 a0001 c0001 t0001 g0214 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18975 hp1 a0002 c0002 t0002 g0067 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18975 hp2 a0001 c0001 t0001 g0146 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18978 hp1 a0002 c0002 t0002 g0105 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18978 hp2 a0001 c0001 t0001 g0210 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18980 hp1 a0001 c0001 t0001 g0132 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18980 hp2 a0001 c0001 t0001 g0155 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18982 hp1 a0006 c0006 t0002 g0094 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18982 hp2 a0001 c0001 t0001 g0217 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18983 hp1 a0001 c0001 t0003 g0072 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18983 hp2 a0001 c0001 t0001 g0001 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18984 hp1 a0001 c0001 t0001 g0170 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18984 hp2 a0001 c0001 t0003 g0084 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18985 hp1 a0002 c0002 t0002 g0106 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18985 hp2 a0001 c0001 t0001 g0020 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18988 hp1 a0001 c0001 t0003 g0083 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18988 hp2 a0002 c0002 t0002 g0096 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18989 hp1 a0001 c0001 t0001 g0220 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18989 hp2 a0001 c0001 t0001 g0161 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18991 hp1 a0001 c0001 t0001 g0207 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18991 hp2 a0001 c0001 t0001 g0007 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18993 hp1 a0001 c0001 t0001 g0029 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18993 hp2 a0001 c0001 t0003 g0042 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18994 hp1 a0001 c0001 t0001 g0027 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18994 hp2 a0002 c0002 t0002 g0060 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18998 hp1 a0002 c0002 t0002 g0017 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18998 hp2 a0001 c0001 t0001 g0023 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18999 hp1 a0001 c0001 t0001 g0147 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18999 hp2 a0001 c0001 t0001 g0206 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19000 hp1 a0001 c0001 t0001 g0148 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19000 hp2 a0001 c0001 t0001 g0179 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19002 hp1 a0001 c0001 t0001 g0020 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19002 hp2 a0002 c0002 t0002 g0057 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19012 hp1 a0001 c0001 t0001 g0209 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19012 hp2 a0001 c0001 t0001 g0160 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19030 hp1 a0001 c0001 t0002 g0045 AFR LWK BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19030 hp2 a0001 c0001 t0002 g0246 AFR LWK BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19043 hp1 a0003 c0003 t0005 g0111 AFR LWK BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19043 hp2 a0001 c0001 t0007 g0136 AFR LWK BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19058 hp1 a0001 c0001 t0003 g0086 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19058 hp2 a0002 c0002 t0002 g0004 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19060 hp1 a0001 c0001 t0001 g0001 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19060 hp2 a0002 c0002 t0002 g0068 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19062 hp1 a0001 c0001 t0001 g0201 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19062 hp2 a0001 c0001 t0003 g0043 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19064 hp1 a0001 c0001 t0001 g0212 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19064 hp2 a0002 c0002 t0002 g0098 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19065 hp1 a0001 c0001 t0001 g0007 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19065 hp2 a0002 c0002 t0002 g0015 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19068 hp1 a0001 c0001 t0001 g0168 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19068 hp2 a0002 c0002 t0002 g0097 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19070 hp1 a0001 c0001 t0001 g0024 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19070 hp2 a0001 c0001 t0001 g0208 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19074 hp1 a0001 c0001 t0001 g0126 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19074 hp2 a0001 c0001 t0001 g0037 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19077 hp1 a0001 c0001 t0003 g0085 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19077 hp2 a0001 c0001 t0001 g0213 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19080 hp1 a0001 c0001 t0003 g0091 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19080 hp2 a0001 c0001 t0001 g0166 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19081 hp1 a0001 c0001 t0001 g0197 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19081 hp2 a0002 c0002 t0002 g0095 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19083 hp1 a0001 c0001 t0001 g0223 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19083 hp2 a0001 c0001 t0001 g0149 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19085 hp1 a0002 c0002 t0002 g0108 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19085 hp2 a0001 c0001 t0001 g0182 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19086 hp1 a0001 c0001 t0001 g0022 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19086 hp2 a0001 c0001 t0001 g0199 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19240 hp1 a0001 c0001 t0001 g0010 AFR YRI BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA19240 hp2 a0001 c0001 t0001 g0113 AFR YRI BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA20129 hp1 a0001 c0001 t0001 g0014 AFR ASW BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA20129 hp2 a0001 c0001 t0003 g0093 AFR ASW BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA20905 hp1 a0001 c0001 t0001 g0152 SAS GIH BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA20905 hp2 a0001 c0001 t0003 g0079 SAS GIH BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02109 hp1 a0001 c0001 t0002 g0012 AFR ACB BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02109 hp2 a0002 c0002 t0002 g0055 AFR ACB BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02486 hp1 a0001 c0001 t0003 g0075 AFR ACB BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02486 hp2 a0001 c0001 t0001 g0071 AFR ACB BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02559 hp1 a0001 c0001 t0001 g0143 AFR ACB BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG02559 hp2 a0001 c0001 t0003 g0139 AFR ACB BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03471 hp1 a0001 c0001 t0001 g0202 AFR MSL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG03471 hp2 a0001 c0001 t0003 g0077 AFR MSL BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG06807 hp1 a0002 c0002 t0002 g0165 AFR USA BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
HG06807 hp2 a0001 c0001 t0002 g0241 AFR USA BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18955 hp1 a0001 c0001 t0001 g0151 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA18955 hp2 a0002 c0002 t0002 g0101 EAS JPT BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA20300 hp1 a0001 c0001 t0002 g0115 AFR USA BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA20300 hp2 a0001 c0001 t0001 g0192 AFR USA BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA21309 hp1 a0001 c0001 t0001 g0190 AFR LWK BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
NA21309 hp2 a0001 c0001 t0007 g0135 AFR LWK BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
homoSapiens_chm13v2 hp1 a0002 c0002 t0004 g0033 REF REF BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423
homoSapiens_grch38 hp1 a0001 c0001 t0003 g0073 REF REF BCHE_chr3_165767904_165842423 BCHE chr3 165767904 165842423

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
chr3:165773492 C
C
 T
T
 4 a0002
a0003
a0004
others(1): Show 
a0002
a0003
a0004
a0006
 59 HG00544.hp1
HG00609.hp2
HG00621.hp2
others(56): Show 
HG00544.hp1
HG00609.hp2
HG00621.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp2
HG01517.hp2
HG01934.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02683.hp2
HG02735.hp1
HG02738.hp1
HG02965.hp2
HG02976.hp1
HG03239.hp2
HG03540.hp2
HG03654.hp2
HG03927.hp1
HG03927.hp2
HG06807.hp1
NA18941.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp2
NA18955.hp2
NA18956.hp1
NA18961.hp2
NA18962.hp1
NA18965.hp1
NA18968.hp1
NA18975.hp1
NA18978.hp1
NA18982.hp1
NA18985.hp1
NA18988.hp2
NA18994.hp2
NA18998.hp1
NA19002.hp2
NA19043.hp1
NA19058.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp2
NA19068.hp2
NA19081.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.1699G>A
c.1699G>A
 p.Ala567Thr
p.Ala567Thr
 BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 4/4 1817/2405 1699/1809 567/602 chr3 165773492
chr3:165829857 C
C
 G
G
 1 a0006
a0006
 1 NA18982.hp1
NA18982.hp1
 missense_variant MODERATE c.1177G>C
c.1177G>C
 p.Gly393Arg
p.Gly393Arg
 BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/4 1295/2405 1177/1809 393/602 chr3 165829857
chr3:165830100 T
T
 A
A
 1 a0005
a0005
 1 NA18968.hp2
NA18968.hp2
 missense_variant MODERATE c.934A>T
c.934A>T
 p.Thr312Ser
p.Thr312Ser
 BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/4 1052/2405 934/1809 312/602 chr3 165830100
chr3:165830154 T
T
 A
A
 1 a0007
a0007
 1 HG02572.hp1
HG02572.hp1
 missense_variant MODERATE c.880A>T
c.880A>T
 p.Asn294Tyr
p.Asn294Tyr
 BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/4 998/2405 880/1809 294/602 chr3 165830154
chr3:165830185 C
C
 G
G
 1 a0003
a0003
 5 HG01496.hp2
HG02055.hp2
HG02615.hp2
others(2): Show 
HG01496.hp2
HG02055.hp2
HG02615.hp2
HG02976.hp1
NA19043.hp1
 missense_variant MODERATE c.849G>C
c.849G>C
 p.Glu283Asp
p.Glu283Asp
 BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/4 967/2405 849/1809 283/602 chr3 165830185
chr3:165830525 A
A
 G
G
 1 a0004
a0004
 1 HG02735.hp1
HG02735.hp1
 missense_variant MODERATE c.509T>C
c.509T>C
 p.Val170Ala
p.Val170Ala
 BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/4 627/2405 509/1809 170/602 chr3 165830525

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
chr3:165830344 A
A
 G
G
 1 a0001c0005
a0001c0005
 1 NA18957.hp2
NA18957.hp2
 synonymous_variant LOW c.690T>C
c.690T>C
 p.Ala230Ala
p.Ala230Ala
 BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/4 808/2405 690/1809 230/602 chr3 165830344

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
chr3:165772915 G
G
 C
C
 1 a0001c0001t0007
a0001c0001t0007
 3 HG02970.hp2
NA19043.hp2
NA21309.hp2
HG02970.hp2
NA19043.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*467C>G
c.*467C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 4/4 467 chr3 165772915
chr3:165772927 A
A
 G
G
 1 a0001c0001t0010
a0001c0001t0010
 1 HG02886.hp1
HG02886.hp1
 3_prime_UTR_variant MODIFIER c.*455T>C
c.*455T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 4/4 455 chr3 165772927
chr3:165773033 C
C
 T
T
 1 a0003c0003t0005
a0003c0003t0005
 5 HG01496.hp2
HG02055.hp2
HG02615.hp2
others(2): Show 
HG01496.hp2
HG02055.hp2
HG02615.hp2
HG02976.hp1
NA19043.hp1
 3_prime_UTR_variant MODIFIER c.*349G>A
c.*349G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 4/4 349 chr3 165773033
chr3:165773088 G
G
 A
A
 1 a0002c0002t0009
a0002c0002t0009
 1 NA18961.hp2
NA18961.hp2
 3_prime_UTR_variant MODIFIER c.*294C>T
c.*294C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 4/4 294 chr3 165773088
chr3:165773088 G
G
 GA
GA
 12 a0001c0001t0001
a0001c0001t0002
a0001c0001t0006
others(9): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0006
a0001c0001t0010
a0001c0005t0001
a0002c0002t0002
a0002c0002t0004
a0002c0002t0008
a0003c0003t0005
a0004c0004t0004
a0005c0007t0001
a0006c0006t0002
 258 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(255): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*293dupT
c.*293dupT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 4/4 293 chr3 165773088
chr3:165773193 C
C
 T
T
 4 a0001c0001t0001
a0001c0001t0006
a0001c0005t0001
others(1): Show 
a0001c0001t0001
a0001c0001t0006
a0001c0005t0001
a0005c0007t0001
 172 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(169): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*189G>A
c.*189G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 4/4 189 chr3 165773193
chr3:165773202 C
C
 T
T
 1 a0002c0002t0008
a0002c0002t0008
 3 HG02055.hp1
HG02258.hp2
HG02965.hp2
HG02055.hp1
HG02258.hp2
HG02965.hp2
 3_prime_UTR_variant MODIFIER c.*180G>A
c.*180G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 4/4 180 chr3 165773202
chr3:165773243 A
A
 T
T
 1 a0001c0001t0007
a0001c0001t0007
 3 HG02970.hp2
NA19043.hp2
NA21309.hp2
HG02970.hp2
NA19043.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*139T>A
c.*139T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 4/4 139 chr3 165773243
chr3:165773369 G
G
 A
A
 1 a0001c0001t0006
a0001c0001t0006
 5 HG01433.hp2
HG02895.hp1
HG02897.hp2
others(2): Show 
HG01433.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG03225.hp2
 3_prime_UTR_variant MODIFIER c.*13C>T
c.*13C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 4/4 13 chr3 165773369
chr3:165837337 C
C
 T
T
 2 a0002c0002t0004
a0004c0004t0004
a0002c0002t0004
a0004c0004t0004
 11 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(8): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
homoSapiens_chm13v2.hp1
 5_prime_UTR_variant MODIFIER c.-32G>A
c.-32G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/4 6304 chr3 165837337

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
chr3:165773611 G
G
 A
A
 2 a0001c0001t0001g0161
a0001c0001t0001g0209
a0001c0001t0001g0161
a0001c0001t0001g0209
 2 NA18989.hp2
NA19012.hp1
NA18989.hp2
NA19012.hp1
 intron_variant MODIFIER c.1685-105C>T
c.1685-105C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165773611
chr3:165773718 A
A
 G
G
 2 a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0146
a0001c0001t0001g0147
 2 NA18975.hp2
NA18999.hp1
NA18975.hp2
NA18999.hp1
 intron_variant MODIFIER c.1685-212T>C
c.1685-212T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165773718
chr3:165773728 T
T
 A
A
 1 a0001c0001t0001g0200
a0001c0001t0001g0200
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.1685-222A>T
c.1685-222A>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165773728
chr3:165773741 ATAT
ATAT
 A
A
 5 a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
others(2): Show 
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 5 HG01433.hp2
HG02895.hp1
HG02897.hp2
others(2): Show 
HG01433.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG03225.hp2
 intron_variant MODIFIER c.1685-238_1685-236d
others(5): Show 
c.1685-238_1685-236delATA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165773741
chr3:165773796 AT
AT
 A
A
 138 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(135): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0005t0001g0142
a0005c0007t0001g0186
 172 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(169): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1685-291delA
c.1685-291delA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165773796
chr3:165773924 G
G
 A
A
 5 a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
others(2): Show 
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 11 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(8): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1685-418C>T
c.1685-418C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165773924
chr3:165773977 G
G
 C
C
 138 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(135): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0005t0001g0142
a0005c0007t0001g0186
 172 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(169): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1685-471C>G
c.1685-471C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165773977
chr3:165774008 A
A
 G
G
 138 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(135): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0005t0001g0142
a0005c0007t0001g0186
 172 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(169): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1685-502T>C
c.1685-502T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165774008
chr3:165774127 A
A
 G
G
 208 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(205): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
 259 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(256): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1685-621T>C
c.1685-621T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165774127
chr3:165774240 A
A
 G
G
 2 a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0146
a0001c0001t0001g0147
 2 NA18975.hp2
NA18999.hp1
NA18975.hp2
NA18999.hp1
 intron_variant MODIFIER c.1685-734T>C
c.1685-734T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165774240
chr3:165774346 T
T
 A
A
 1 a0003c0003t0005g0112
a0003c0003t0005g0112
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.1685-840A>T
c.1685-840A>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165774346
chr3:165774394 C
C
 T
T
 1 a0001c0001t0003g0085
a0001c0001t0003g0085
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.1685-888G>A
c.1685-888G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165774394
chr3:165774410 C
C
 T
T
 13 a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0216
others(10): Show 
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0216
a0001c0001t0003g0072
a0001c0001t0003g0078
a0001c0001t0003g0082
a0001c0001t0003g0083
a0001c0001t0003g0084
a0001c0001t0003g0085
a0001c0001t0003g0086
a0001c0001t0003g0087
a0001c0001t0003g0090
a0001c0001t0003g0091
 13 HG00423.hp1
HG00621.hp1
HG02080.hp1
others(10): Show 
HG00423.hp1
HG00621.hp1
HG02080.hp1
HG02083.hp1
NA18939.hp2
NA18950.hp1
NA18960.hp2
NA18983.hp1
NA18984.hp2
NA18988.hp1
NA19058.hp1
NA19077.hp1
NA19080.hp1
 intron_variant MODIFIER c.1685-904G>A
c.1685-904G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165774410
chr3:165774478 C
C
 T
T
 1 a0001c0001t0003g0031
a0001c0001t0003g0031
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.1685-972G>A
c.1685-972G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165774478
chr3:165774622 A
A
 G
G
 208 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(205): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
 259 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(256): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1685-1116T>C
c.1685-1116T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165774622
chr3:165774829 T
T
 C
C
 48 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(45): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 58 HG00099.hp2
HG00423.hp2
HG00621.hp1
others(55): Show 
HG00099.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01934.hp1
HG01943.hp2
HG02015.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03669.hp1
HG03704.hp1
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18957.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.1685-1323A>G
c.1685-1323A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165774829
chr3:165774934 GAC
GAC
 G
G
 34 a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
others(31): Show 
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0009g0103
a0006c0006t0002g0094
 38 HG00544.hp1
HG00609.hp2
HG00621.hp2
others(35): Show 
HG00544.hp1
HG00609.hp2
HG00621.hp2
HG01978.hp2
HG02040.hp1
HG02056.hp2
HG02165.hp1
HG02602.hp1
HG02683.hp2
HG03239.hp2
HG03927.hp1
HG06807.hp1
NA18941.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp2
NA18955.hp2
NA18956.hp1
NA18961.hp2
NA18962.hp1
NA18965.hp1
NA18968.hp1
NA18975.hp1
NA18978.hp1
NA18982.hp1
NA18985.hp1
NA18988.hp2
NA18994.hp2
NA18998.hp1
NA19002.hp2
NA19058.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp2
NA19068.hp2
NA19081.hp2
NA19085.hp1
 intron_variant MODIFIER c.1685-1430_1685-142
others(6): Show 
c.1685-1430_1685-1429delGT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165774934
chr3:165775077 G
G
 A
A
 208 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(205): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
 259 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(256): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1685-1571C>T
c.1685-1571C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165775077
chr3:165775347 G
G
 C
C
 2 a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0054
a0002c0002t0002g0055
 2 HG02109.hp2
HG02572.hp2
HG02109.hp2
HG02572.hp2
 intron_variant MODIFIER c.1685-1841C>G
c.1685-1841C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165775347
chr3:165775348 A
A
 G
G
 222 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(219): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0006
a0001c0001t0003g0031
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 276 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(273): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1685-1842T>C
c.1685-1842T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165775348
chr3:165775379 A
A
 G
G
 5 a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
others(2): Show 
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 5 HG01433.hp2
HG02895.hp1
HG02897.hp2
others(2): Show 
HG01433.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG03225.hp2
 intron_variant MODIFIER c.1685-1873T>C
c.1685-1873T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165775379
chr3:165775632 T
T
 C
C
 22 a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
others(19): Show 
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
 28 HG00140.hp2
HG01106.hp2
HG01358.hp2
others(25): Show 
HG00140.hp2
HG01106.hp2
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02109.hp1
HG02280.hp2
HG02451.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03490.hp1
HG03516.hp2
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.1685-2126A>G
c.1685-2126A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165775632
chr3:165775653 A
A
 T
T
 1 a0001c0001t0002g0241
a0001c0001t0002g0241
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.1685-2147T>A
c.1685-2147T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165775653
chr3:165775666 A
A
 C
C
 80 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(77): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0209
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0005t0001g0142
a0005c0007t0001g0186
 102 HG00099.hp1
HG00140.hp1
HG00544.hp2
others(99): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02683.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG03239.hp1
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp2
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19060.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1685-2160T>G
c.1685-2160T>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165775666
chr3:165775706 C
C
 T
T
 1 a0001c0001t0001g0205
a0001c0001t0001g0205
 1 HG01943.hp2
HG01943.hp2
 intron_variant MODIFIER c.1685-2200G>A
c.1685-2200G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165775706
chr3:165775877 G
G
 C
C
 2 a0001c0001t0001g0155
a0001c0001t0001g0170
a0001c0001t0001g0155
a0001c0001t0001g0170
 2 NA18980.hp2
NA18984.hp1
NA18980.hp2
NA18984.hp1
 intron_variant MODIFIER c.1685-2371C>G
c.1685-2371C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165775877
chr3:165775936 C
C
 T
T
 80 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(77): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0209
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0005t0001g0142
a0005c0007t0001g0186
 102 HG00099.hp1
HG00140.hp1
HG00544.hp2
others(99): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02683.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG03239.hp1
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp2
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19060.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1685-2430G>A
c.1685-2430G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165775936
chr3:165776031 A
A
 G
G
 138 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(135): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0005t0001g0142
a0005c0007t0001g0186
 172 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(169): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1685-2525T>C
c.1685-2525T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165776031
chr3:165776594 G
G
 A
A
 1 a0001c0001t0002g0114
a0001c0001t0002g0114
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1685-3088C>T
c.1685-3088C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165776594
chr3:165776608 A
A
 C
C
 1 a0001c0001t0001g0178
a0001c0001t0001g0178
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.1685-3102T>G
c.1685-3102T>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165776608
chr3:165776682 A
A
 G
G
 22 a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
others(19): Show 
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
 28 HG00140.hp2
HG01106.hp2
HG01358.hp2
others(25): Show 
HG00140.hp2
HG01106.hp2
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02109.hp1
HG02280.hp2
HG02451.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03490.hp1
HG03516.hp2
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.1685-3176T>C
c.1685-3176T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165776682
chr3:165776775 A
A
 G
G
 48 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(45): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 58 HG00099.hp2
HG00423.hp2
HG00621.hp1
others(55): Show 
HG00099.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01934.hp1
HG01943.hp2
HG02015.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03669.hp1
HG03704.hp1
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18957.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.1685-3269T>C
c.1685-3269T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165776775
chr3:165776778 C
C
 T
T
 1 a0002c0002t0002g0165
a0002c0002t0002g0165
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.1685-3272G>A
c.1685-3272G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165776778
chr3:165776779 G
G
 A
A
 138 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(135): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0005t0001g0142
a0005c0007t0001g0186
 172 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(169): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1685-3273C>T
c.1685-3273C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165776779
chr3:165776936 G
G
 A
A
 4 a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
others(1): Show 
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
 5 HG01496.hp2
HG02055.hp2
HG02615.hp2
others(2): Show 
HG01496.hp2
HG02055.hp2
HG02615.hp2
HG02976.hp1
NA19043.hp1
 intron_variant MODIFIER c.1685-3430C>T
c.1685-3430C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165776936
chr3:165776951 A
A
 G
G
 138 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(135): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0005t0001g0142
a0005c0007t0001g0186
 172 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(169): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1685-3445T>C
c.1685-3445T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165776951
chr3:165776962 G
G
 T
T
 1 a0001c0001t0001g0169
a0001c0001t0001g0169
 1 HG01256.hp2
HG01256.hp2
 intron_variant MODIFIER c.1685-3456C>A
c.1685-3456C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165776962
chr3:165776989 G
G
 A
A
 208 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(205): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
 259 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(256): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1685-3483C>T
c.1685-3483C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165776989
chr3:165776997 C
C
 G
G
 87 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(84): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0209
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0005t0001g0142
a0005c0007t0001g0186
 111 HG00099.hp1
HG00140.hp1
HG00544.hp2
others(108): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp2
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19060.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1685-3491G>C
c.1685-3491G>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165776997
chr3:165777107 A
A
 G
G
 5 a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
others(2): Show 
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 11 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(8): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1685-3601T>C
c.1685-3601T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165777107
chr3:165777333 C
C
 A
A
 138 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(135): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0005t0001g0142
a0005c0007t0001g0186
 172 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(169): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1685-3827G>T
c.1685-3827G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165777333
chr3:165777354 AAAT
AAAT
 A
A
 48 a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
others(45): Show 
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0006c0006t0002g0094
 59 HG00544.hp1
HG00609.hp2
HG00621.hp2
others(56): Show 
HG00544.hp1
HG00609.hp2
HG00621.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp2
HG01517.hp2
HG01934.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02683.hp2
HG02735.hp1
HG02738.hp1
HG02965.hp2
HG02976.hp1
HG03239.hp2
HG03540.hp2
HG03654.hp2
HG03927.hp1
HG03927.hp2
HG06807.hp1
NA18941.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp2
NA18955.hp2
NA18956.hp1
NA18961.hp2
NA18962.hp1
NA18965.hp1
NA18968.hp1
NA18975.hp1
NA18978.hp1
NA18982.hp1
NA18985.hp1
NA18988.hp2
NA18994.hp2
NA18998.hp1
NA19002.hp2
NA19043.hp1
NA19058.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp2
NA19068.hp2
NA19081.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1685-3851_1685-384
others(7): Show 
c.1685-3851_1685-3849delATT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165777354
chr3:165777562 T
T
 C
C
 1 a0001c0001t0006g0226
a0001c0001t0006g0226
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.1685-4056A>G
c.1685-4056A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165777562
chr3:165777595 G
G
 A
A
 3 a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
 3 HG02970.hp2
NA19043.hp2
NA21309.hp2
HG02970.hp2
NA19043.hp2
NA21309.hp2
 intron_variant MODIFIER c.1685-4089C>T
c.1685-4089C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165777595
chr3:165777612 G
G
 A
A
 138 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(135): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0005t0001g0142
a0005c0007t0001g0186
 172 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(169): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1685-4106C>T
c.1685-4106C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165777612
chr3:165777632 G
G
 C
C
 80 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(77): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0209
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0005t0001g0142
a0005c0007t0001g0186
 102 HG00099.hp1
HG00140.hp1
HG00544.hp2
others(99): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02683.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG03239.hp1
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp2
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19060.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1685-4126C>G
c.1685-4126C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165777632
chr3:165777732 C
C
 A
A
 3 a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
 3 HG02970.hp2
NA19043.hp2
NA21309.hp2
HG02970.hp2
NA19043.hp2
NA21309.hp2
 intron_variant MODIFIER c.1685-4226G>T
c.1685-4226G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165777732
chr3:165778113 G
G
 T
T
 3 a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
 3 HG01346.hp1
HG02486.hp2
NA19240.hp2
HG01346.hp1
HG02486.hp2
NA19240.hp2
 intron_variant MODIFIER c.1685-4607C>A
c.1685-4607C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165778113
chr3:165778136 A
A
 T
T
 1 a0001c0001t0003g0082
a0001c0001t0003g0082
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.1685-4630T>A
c.1685-4630T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165778136
chr3:165778249 T
T
 A
A
 119 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(116): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0209
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0005c0007t0001g0186
a0006c0006t0002g0094
 145 HG00099.hp1
HG00140.hp1
HG00544.hp1
others(142): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1685-4743A>T
c.1685-4743A>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165778249
chr3:165778344 G
G
 A
A
 1 a0001c0001t0002g0117
a0001c0001t0002g0117
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.1685-4838C>T
c.1685-4838C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165778344
chr3:165778434 T
T
 G
G
 48 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(45): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 58 HG00099.hp2
HG00423.hp2
HG00621.hp1
others(55): Show 
HG00099.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01934.hp1
HG01943.hp2
HG02015.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03669.hp1
HG03704.hp1
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18957.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.1685-4928A>C
c.1685-4928A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165778434
chr3:165778626 A
A
 G
G
 1 a0002c0002t0002g0102
a0002c0002t0002g0102
 1 NA18956.hp1
NA18956.hp1
 intron_variant MODIFIER c.1685-5120T>C
c.1685-5120T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165778626
chr3:165778632 C
C
 T
T
 4 a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
others(1): Show 
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
 5 HG01496.hp2
HG02055.hp2
HG02615.hp2
others(2): Show 
HG01496.hp2
HG02055.hp2
HG02615.hp2
HG02976.hp1
NA19043.hp1
 intron_variant MODIFIER c.1685-5126G>A
c.1685-5126G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165778632
chr3:165778834 A
A
 T
T
 208 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(205): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
 259 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(256): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1685-5328T>A
c.1685-5328T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165778834
chr3:165778910 T
T
 G
G
 1 a0001c0001t0001g0124
a0001c0001t0001g0124
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1685-5404A>C
c.1685-5404A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165778910
chr3:165778915 AT
AT
 A
A
 138 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(135): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0005t0001g0142
a0005c0007t0001g0186
 172 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(169): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1685-5410delA
c.1685-5410delA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165778915
chr3:165779043 C
C
 G
G
 2 a0002c0002t0002g0098
a0002c0002t0002g0102
a0002c0002t0002g0098
a0002c0002t0002g0102
 2 NA18956.hp1
NA19064.hp2
NA18956.hp1
NA19064.hp2
 intron_variant MODIFIER c.1685-5537G>C
c.1685-5537G>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165779043
chr3:165779094 A
A
 G
G
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 2 NA18985.hp2
NA19002.hp1
NA18985.hp2
NA19002.hp1
 intron_variant MODIFIER c.1685-5588T>C
c.1685-5588T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165779094
chr3:165779138 C
C
 T
T
 7 a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0128
others(4): Show 
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0133
a0001c0001t0003g0074
 7 HG00140.hp1
HG00642.hp2
HG01074.hp1
others(4): Show 
HG00140.hp1
HG00642.hp2
HG01074.hp1
HG01106.hp1
HG01167.hp1
HG01261.hp2
HG01515.hp1
 intron_variant MODIFIER c.1685-5632G>A
c.1685-5632G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165779138
chr3:165779401 G
G
 C
C
 22 a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
others(19): Show 
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
 28 HG00140.hp2
HG01106.hp2
HG01358.hp2
others(25): Show 
HG00140.hp2
HG01106.hp2
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02109.hp1
HG02280.hp2
HG02451.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03490.hp1
HG03516.hp2
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.1685-5895C>G
c.1685-5895C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165779401
chr3:165779445 G
G
 A
A
 1 a0001c0001t0001g0113
a0001c0001t0001g0113
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.1685-5939C>T
c.1685-5939C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165779445
chr3:165779505 T
T
 G
G
 43 a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
others(40): Show 
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0006c0006t0002g0094
 48 HG00544.hp1
HG00609.hp2
HG00621.hp2
others(45): Show 
HG00544.hp1
HG00609.hp2
HG00621.hp2
HG01496.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02965.hp2
HG02976.hp1
HG03239.hp2
HG03927.hp1
HG06807.hp1
NA18941.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp2
NA18955.hp2
NA18956.hp1
NA18961.hp2
NA18962.hp1
NA18965.hp1
NA18968.hp1
NA18975.hp1
NA18978.hp1
NA18982.hp1
NA18985.hp1
NA18988.hp2
NA18994.hp2
NA18998.hp1
NA19002.hp2
NA19043.hp1
NA19058.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp2
NA19068.hp2
NA19081.hp2
NA19085.hp1
 intron_variant MODIFIER c.1685-5999A>C
c.1685-5999A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165779505
chr3:165779523 G
G
 A
A
 2 a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0119
a0002c0002t0008g0120
 2 HG02055.hp1
HG02965.hp2
HG02055.hp1
HG02965.hp2
 intron_variant MODIFIER c.1685-6017C>T
c.1685-6017C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165779523
chr3:165779608 C
C
 A
A
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.1685-6102G>T
c.1685-6102G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165779608
chr3:165779886 T
T
 G
G
 3 a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0223
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0223
 3 HG02015.hp1
NA18989.hp1
NA19083.hp1
HG02015.hp1
NA18989.hp1
NA19083.hp1
 intron_variant MODIFIER c.1684+6259A>C
c.1684+6259A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165779886
chr3:165779981 T
T
 G
G
 14 a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
others(11): Show 
a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
 17 HG00140.hp2
HG01106.hp2
HG01358.hp2
others(14): Show 
HG00140.hp2
HG01106.hp2
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02109.hp1
HG02280.hp2
HG02723.hp1
HG02886.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03490.hp1
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.1684+6164A>C
c.1684+6164A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165779981
chr3:165780021 G
G
 T
T
 2 a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0070
a0001c0001t0001g0071
 2 HG01346.hp1
HG02486.hp2
HG01346.hp1
HG02486.hp2
 intron_variant MODIFIER c.1684+6124C>A
c.1684+6124C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165780021
chr3:165780046 A
A
 G
G
 80 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(77): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0209
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0005t0001g0142
a0005c0007t0001g0186
 102 HG00099.hp1
HG00140.hp1
HG00544.hp2
others(99): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02683.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG03239.hp1
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp2
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19060.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1684+6099T>C
c.1684+6099T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165780046
chr3:165780114 G
G
 T
T
 208 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(205): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
 259 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(256): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1684+6031C>A
c.1684+6031C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165780114
chr3:165780120 C
C
 A
A
 2 a0002c0002t0002g0095
a0002c0002t0009g0103
a0002c0002t0002g0095
a0002c0002t0009g0103
 2 NA18961.hp2
NA19081.hp2
NA18961.hp2
NA19081.hp2
 intron_variant MODIFIER c.1684+6025G>T
c.1684+6025G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165780120
chr3:165780120 C
C
 T
T
 5 a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
others(2): Show 
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 11 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(8): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1684+6025G>A
c.1684+6025G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165780120
chr3:165780310 G
G
 T
T
 14 a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
others(11): Show 
a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
 17 HG00140.hp2
HG01106.hp2
HG01358.hp2
others(14): Show 
HG00140.hp2
HG01106.hp2
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02109.hp1
HG02280.hp2
HG02723.hp1
HG02886.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03490.hp1
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.1684+5835C>A
c.1684+5835C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165780310
chr3:165780405 C
C
 T
T
 2 a0001c0001t0003g0080
a0001c0001t0003g0081
a0001c0001t0003g0080
a0001c0001t0003g0081
 2 HG01069.hp1
HG03486.hp1
HG01069.hp1
HG03486.hp1
 intron_variant MODIFIER c.1684+5740G>A
c.1684+5740G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165780405
chr3:165780478 A
A
 G
G
 1 a0001c0001t0003g0092
a0001c0001t0003g0092
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.1684+5667T>C
c.1684+5667T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165780478
chr3:165780521 T
T
 G
G
 222 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(219): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0006
a0001c0001t0003g0031
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 276 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(273): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1684+5624A>C
c.1684+5624A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165780521
chr3:165780606 G
G
 A
A
 3 a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
 3 HG01346.hp1
HG02486.hp2
NA19240.hp2
HG01346.hp1
HG02486.hp2
NA19240.hp2
 intron_variant MODIFIER c.1684+5539C>T
c.1684+5539C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165780606
chr3:165780649 T
T
 C
C
 208 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(205): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
 259 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(256): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1684+5496A>G
c.1684+5496A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165780649
chr3:165780651 T
T
 C
C
 1 a0003c0003t0005g0112
a0003c0003t0005g0112
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.1684+5494A>G
c.1684+5494A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165780651
chr3:165780663 C
C
 A
A
 1 a0002c0002t0002g0057
a0002c0002t0002g0057
 1 NA19002.hp2
NA19002.hp2
 intron_variant MODIFIER c.1684+5482G>T
c.1684+5482G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165780663
chr3:165780682 G
G
 A
A
 208 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(205): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
 259 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(256): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1684+5463C>T
c.1684+5463C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165780682
chr3:165780766 T
T
 A
A
 2 a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0054
a0002c0002t0002g0055
 2 HG02109.hp2
HG02572.hp2
HG02109.hp2
HG02572.hp2
 intron_variant MODIFIER c.1684+5379A>T
c.1684+5379A>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165780766
chr3:165780810 G
G
 A
A
 1 a0001c0001t0001g0151
a0001c0001t0001g0151
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.1684+5335C>T
c.1684+5335C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165780810
chr3:165781344 A
A
 G
G
 7 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(4): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
 9 HG02145.hp2
HG02258.hp1
HG02622.hp1
others(6): Show 
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02647.hp2
HG02717.hp1
HG02965.hp1
HG03041.hp2
HG03486.hp2
NA20129.hp1
 intron_variant MODIFIER c.1684+4801T>C
c.1684+4801T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165781344
chr3:165781347 GAT
GAT
 G
G
 48 a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
others(45): Show 
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0006c0006t0002g0094
 59 HG00544.hp1
HG00609.hp2
HG00621.hp2
others(56): Show 
HG00544.hp1
HG00609.hp2
HG00621.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp2
HG01517.hp2
HG01934.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02683.hp2
HG02735.hp1
HG02738.hp1
HG02965.hp2
HG02976.hp1
HG03239.hp2
HG03540.hp2
HG03654.hp2
HG03927.hp1
HG03927.hp2
HG06807.hp1
NA18941.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp2
NA18955.hp2
NA18956.hp1
NA18961.hp2
NA18962.hp1
NA18965.hp1
NA18968.hp1
NA18975.hp1
NA18978.hp1
NA18982.hp1
NA18985.hp1
NA18988.hp2
NA18994.hp2
NA18998.hp1
NA19002.hp2
NA19043.hp1
NA19058.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp2
NA19068.hp2
NA19081.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1684+4796_1684+479
others(6): Show 
c.1684+4796_1684+4797delAT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165781347
chr3:165781423 T
T
 C
C
 1 a0001c0001t0003g0040
a0001c0001t0003g0040
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1684+4722A>G
c.1684+4722A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165781423
chr3:165781469 A
A
 G
G
 80 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(77): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0209
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0005t0001g0142
a0005c0007t0001g0186
 102 HG00099.hp1
HG00140.hp1
HG00544.hp2
others(99): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02683.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG03239.hp1
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp2
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19060.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1684+4676T>C
c.1684+4676T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165781469
chr3:165781604 AG
AG
 A
A
 48 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(45): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 58 HG00099.hp2
HG00423.hp2
HG00621.hp1
others(55): Show 
HG00099.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01934.hp1
HG01943.hp2
HG02015.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03669.hp1
HG03704.hp1
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18957.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.1684+4540delC
c.1684+4540delC
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165781604
chr3:165782130 C
C
 A
A
 3 a0001c0001t0001g0021
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0021
a0001c0001t0001g0179
a0001c0001t0001g0180
 4 HG02040.hp2
HG02155.hp2
HG02165.hp2
others(1): Show 
HG02040.hp2
HG02155.hp2
HG02165.hp2
NA19000.hp2
 intron_variant MODIFIER c.1684+4015G>T
c.1684+4015G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165782130
chr3:165782184 C
C
 T
T
 5 a0001c0001t0003g0052
a0001c0001t0003g0075
a0001c0001t0003g0076
others(2): Show 
a0001c0001t0003g0052
a0001c0001t0003g0075
a0001c0001t0003g0076
a0001c0001t0003g0088
a0001c0001t0003g0089
 5 HG02280.hp1
HG02486.hp1
HG02723.hp2
others(2): Show 
HG02280.hp1
HG02486.hp1
HG02723.hp2
HG03225.hp1
HG03516.hp1
 intron_variant MODIFIER c.1684+3961G>A
c.1684+3961G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165782184
chr3:165782253 G
G
 A
A
 199 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(196): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 246 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(243): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1684+3892C>T
c.1684+3892C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165782253
chr3:165782266 G
G
 A
A
 48 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(45): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 58 HG00099.hp2
HG00423.hp2
HG00621.hp1
others(55): Show 
HG00099.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01934.hp1
HG01943.hp2
HG02015.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03669.hp1
HG03704.hp1
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18957.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.1684+3879C>T
c.1684+3879C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165782266
chr3:165782372 G
G
 T
T
 15 a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0045
others(12): Show 
a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
 18 HG00140.hp2
HG01106.hp2
HG01358.hp2
others(15): Show 
HG00140.hp2
HG01106.hp2
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02109.hp1
HG02280.hp2
HG02723.hp1
HG02886.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03490.hp1
HG06807.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.1684+3773C>A
c.1684+3773C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165782372
chr3:165782447 G
G
 C
C
 222 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(219): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0006
a0001c0001t0003g0031
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 276 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(273): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1684+3698C>G
c.1684+3698C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165782447
chr3:165782473 T
T
 A
A
 1 a0001c0001t0002g0242
a0001c0001t0002g0242
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.1684+3672A>T
c.1684+3672A>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165782473
chr3:165782494 G
G
 GA
GA
 168 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(165): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0209
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0074
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 205 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(202): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1684+3650dupT
c.1684+3650dupT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165782494
chr3:165782504 C
C
 T
T
 30 a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
others(27): Show 
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
 36 HG00140.hp2
HG01106.hp2
HG01346.hp1
others(33): Show 
HG00140.hp2
HG01106.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03490.hp1
HG03516.hp2
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.1684+3641G>A
c.1684+3641G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165782504
chr3:165782621 T
T
 C
C
 131 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(128): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0209
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 160 HG00099.hp1
HG00140.hp1
HG00544.hp1
others(157): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1684+3524A>G
c.1684+3524A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165782621
chr3:165782864 T
T
 G
G
 1 a0001c0001t0001g0113
a0001c0001t0001g0113
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.1684+3281A>C
c.1684+3281A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165782864
chr3:165782897 C
C
 T
T
 14 a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
others(11): Show 
a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
 17 HG00140.hp2
HG01106.hp2
HG01358.hp2
others(14): Show 
HG00140.hp2
HG01106.hp2
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02109.hp1
HG02280.hp2
HG02723.hp1
HG02886.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03490.hp1
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.1684+3248G>A
c.1684+3248G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165782897
chr3:165782911 A
A
 G
G
 1 a0001c0001t0003g0086
a0001c0001t0003g0086
 1 NA19058.hp1
NA19058.hp1
 intron_variant MODIFIER c.1684+3234T>C
c.1684+3234T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165782911
chr3:165783124 TC
TC
 T
T
 29 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(26): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
 37 HG00140.hp2
HG01106.hp2
HG01358.hp2
others(34): Show 
HG00140.hp2
HG01106.hp2
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02109.hp1
HG02145.hp2
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03486.hp2
HG03490.hp1
HG03516.hp2
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.1684+3020delG
c.1684+3020delG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165783124
chr3:165783218 A
A
 G
G
 6 a0001c0001t0003g0072
a0001c0001t0003g0082
a0001c0001t0003g0083
others(3): Show 
a0001c0001t0003g0072
a0001c0001t0003g0082
a0001c0001t0003g0083
a0001c0001t0003g0084
a0001c0001t0003g0090
a0001c0001t0003g0091
 6 HG00423.hp1
NA18950.hp1
NA18983.hp1
others(3): Show 
HG00423.hp1
NA18950.hp1
NA18983.hp1
NA18984.hp2
NA18988.hp1
NA19080.hp1
 intron_variant MODIFIER c.1684+2927T>C
c.1684+2927T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165783218
chr3:165783290 TG
TG
 T
T
 4 a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
others(1): Show 
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
 5 HG01496.hp2
HG02055.hp2
HG02615.hp2
others(2): Show 
HG01496.hp2
HG02055.hp2
HG02615.hp2
HG02976.hp1
NA19043.hp1
 intron_variant MODIFIER c.1684+2854delC
c.1684+2854delC
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165783290
chr3:165783373 T
T
 A
A
 4 a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
others(1): Show 
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
 4 HG02451.hp1
HG02717.hp2
HG02818.hp1
others(1): Show 
HG02451.hp1
HG02717.hp2
HG02818.hp1
NA20300.hp1
 intron_variant MODIFIER c.1684+2772A>T
c.1684+2772A>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165783373
chr3:165783382 G
G
 A
A
 131 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(128): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0209
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 160 HG00099.hp1
HG00140.hp1
HG00544.hp1
others(157): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1684+2763C>T
c.1684+2763C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165783382
chr3:165783533 A
A
 G
G
 1 a0001c0001t0001g0152
a0001c0001t0001g0152
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.1684+2612T>C
c.1684+2612T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165783533
chr3:165783832 A
A
 C
C
 5 a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
others(2): Show 
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 11 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(8): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1684+2313T>G
c.1684+2313T>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165783832
chr3:165783900 C
C
 A
A
 1 a0001c0001t0002g0247
a0001c0001t0002g0247
 1 HG01358.hp2
HG01358.hp2
 intron_variant MODIFIER c.1684+2245G>T
c.1684+2245G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165783900
chr3:165784430 A
A
 G
G
 1 a0002c0002t0002g0096
a0002c0002t0002g0096
 1 NA18988.hp2
NA18988.hp2
 intron_variant MODIFIER c.1684+1715T>C
c.1684+1715T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165784430
chr3:165784488 C
C
 A
A
 5 a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
others(2): Show 
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 11 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(8): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1684+1657G>T
c.1684+1657G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165784488
chr3:165784553 A
A
 G
G
 2 a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0054
a0002c0002t0002g0055
 2 HG02109.hp2
HG02572.hp2
HG02109.hp2
HG02572.hp2
 intron_variant MODIFIER c.1684+1592T>C
c.1684+1592T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165784553
chr3:165784600 C
C
 A
A
 1 a0002c0002t0008g0120
a0002c0002t0008g0120
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.1684+1545G>T
c.1684+1545G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165784600
chr3:165784829 A
A
 G
G
 1 a0001c0001t0003g0031
a0001c0001t0003g0031
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.1684+1316T>C
c.1684+1316T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165784829
chr3:165784849 A
A
 C
C
 1 a0001c0001t0001g0217
a0001c0001t0001g0217
 1 NA18982.hp2
NA18982.hp2
 intron_variant MODIFIER c.1684+1296T>G
c.1684+1296T>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165784849
chr3:165784849 A
A
 G
G
 23 a0002c0002t0002g0004
a0002c0002t0002g0017
a0002c0002t0002g0035
others(20): Show 
a0002c0002t0002g0004
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0065
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0165
a0002c0002t0009g0103
a0006c0006t0002g0094
 26 HG00621.hp2
HG01978.hp2
HG02040.hp1
others(23): Show 
HG00621.hp2
HG01978.hp2
HG02040.hp1
HG02056.hp2
HG02165.hp1
HG02683.hp2
HG03239.hp2
HG06807.hp1
NA18944.hp2
NA18945.hp2
NA18950.hp2
NA18955.hp2
NA18956.hp1
NA18961.hp2
NA18965.hp1
NA18968.hp1
NA18978.hp1
NA18982.hp1
NA18985.hp1
NA18988.hp2
NA18998.hp1
NA19058.hp2
NA19064.hp2
NA19068.hp2
NA19081.hp2
NA19085.hp1
 intron_variant MODIFIER c.1684+1296T>C
c.1684+1296T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165784849
chr3:165784921 A
A
 T
T
 160 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(157): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0209
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 197 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(194): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1684+1224T>A
c.1684+1224T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165784921
chr3:165784924 G
G
 A
A
 9 a0001c0001t0001g0143
a0001c0001t0001g0159
a0001c0001t0001g0188
others(6): Show 
a0001c0001t0001g0143
a0001c0001t0001g0159
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0235
 9 HG00738.hp1
HG01192.hp1
HG01255.hp2
others(6): Show 
HG00738.hp1
HG01192.hp1
HG01255.hp2
HG02559.hp1
HG02735.hp2
HG03490.hp2
HG03654.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1684+1221C>T
c.1684+1221C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165784924
chr3:165784936 C
C
 T
T
 131 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(128): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0209
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 160 HG00099.hp1
HG00140.hp1
HG00544.hp1
others(157): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1684+1209G>A
c.1684+1209G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165784936
chr3:165785122 G
G
 A
A
 8 a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
others(5): Show 
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
 8 HG01346.hp1
HG02055.hp1
HG02109.hp2
others(5): Show 
HG01346.hp1
HG02055.hp1
HG02109.hp2
HG02258.hp2
HG02486.hp2
HG02572.hp2
HG02965.hp2
NA19240.hp2
 intron_variant MODIFIER c.1684+1023C>T
c.1684+1023C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165785122
chr3:165785127 C
C
 T
T
 3 a0001c0001t0001g0022
a0001c0001t0001g0182
a0001c0005t0001g0142
a0001c0001t0001g0022
a0001c0001t0001g0182
a0001c0005t0001g0142
 4 NA18956.hp2
NA18957.hp2
NA19085.hp2
others(1): Show 
NA18956.hp2
NA18957.hp2
NA19085.hp2
NA19086.hp1
 intron_variant MODIFIER c.1684+1018G>A
c.1684+1018G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165785127
chr3:165785608 G
G
 A
A
 5 a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
others(2): Show 
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 11 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(8): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1684+537C>T
c.1684+537C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165785608
chr3:165785647 T
T
 C
C
 1 a0001c0001t0002g0030
a0001c0001t0002g0030
 2 HG01891.hp1
HG03209.hp2
HG01891.hp1
HG03209.hp2
 intron_variant MODIFIER c.1684+498A>G
c.1684+498A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165785647
chr3:165785665 T
T
 C
C
 131 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(128): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0209
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 160 HG00099.hp1
HG00140.hp1
HG00544.hp1
others(157): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1684+480A>G
c.1684+480A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165785665
chr3:165785839 A
A
 G
G
 1 a0001c0001t0001g0047
a0001c0001t0001g0047
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.1684+306T>C
c.1684+306T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165785839
chr3:165785847 A
A
 T
T
 29 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(26): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
 37 HG00140.hp2
HG01106.hp2
HG01358.hp2
others(34): Show 
HG00140.hp2
HG01106.hp2
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02109.hp1
HG02145.hp2
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03486.hp2
HG03490.hp1
HG03516.hp2
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.1684+298T>A
c.1684+298T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165785847
chr3:165785998 T
T
 TAAAAATA
others(316): Show 
TAAAAATAATGTGTTCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC
AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA
CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA
TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT
GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA
GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA
AAAAAAAAAAAAAAAAAAAAAAAA
 1 a0003c0003t0005g0018
a0003c0003t0005g0018
 2 HG02615.hp2
HG02976.hp1
HG02615.hp2
HG02976.hp1
 intron_variant MODIFIER c.1684+146_1684+147i
others(325): Show 
c.1684+146_1684+147insTTTTTTTTTTTTTTTTTTTTTTTTTGAG
ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG
CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC
TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT
TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC
GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA
TTACAGGCGTGAGCCACCGCGCCCGGCCATGAACACATTATTTTT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165785998
chr3:165786142 C
C
 T
T
 4 a0001c0001t0003g0006
a0001c0001t0003g0046
a0001c0001t0003g0139
others(1): Show 
a0001c0001t0003g0006
a0001c0001t0003g0046
a0001c0001t0003g0139
a0001c0001t0003g0140
 6 HG02559.hp2
HG02622.hp2
HG02818.hp2
others(3): Show 
HG02559.hp2
HG02622.hp2
HG02818.hp2
HG02970.hp1
HG03195.hp2
NA18522.hp2
 splice_region_variant&intron_variant LOW c.1684+3G>A
c.1684+3G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 3/3 chr3 165786142
chr3:165786317 T
T
 C
C
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 HG02129.hp1
HG02129.hp1
 splice_region_variant&intron_variant LOW c.1518-6A>G
c.1518-6A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165786317
chr3:165786432 A
A
 G
G
 5 a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
others(2): Show 
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 11 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(8): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-121T>C
c.1518-121T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165786432
chr3:165786468 T
T
 A
A
 1 a0001c0001t0001g0171
a0001c0001t0001g0171
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.1518-157A>T
c.1518-157A>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165786468
chr3:165786546 A
A
 G
G
 4 a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
others(1): Show 
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
 4 HG02451.hp1
HG02717.hp2
HG02818.hp1
others(1): Show 
HG02451.hp1
HG02717.hp2
HG02818.hp1
NA20300.hp1
 intron_variant MODIFIER c.1518-235T>C
c.1518-235T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165786546
chr3:165786654 C
C
 G
G
 3 a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0118
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0118
 6 HG02615.hp1
HG02647.hp1
HG02922.hp2
others(3): Show 
HG02615.hp1
HG02647.hp1
HG02922.hp2
HG03098.hp1
HG03516.hp2
NA18522.hp1
 intron_variant MODIFIER c.1518-343G>C
c.1518-343G>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165786654
chr3:165786875 C
C
 A
A
 1 a0001c0001t0001g0113
a0001c0001t0001g0113
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.1518-564G>T
c.1518-564G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165786875
chr3:165787058 G
G
 T
T
 8 a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
others(5): Show 
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
 8 HG01346.hp1
HG02055.hp1
HG02109.hp2
others(5): Show 
HG01346.hp1
HG02055.hp1
HG02109.hp2
HG02258.hp2
HG02486.hp2
HG02572.hp2
HG02965.hp2
NA19240.hp2
 intron_variant MODIFIER c.1518-747C>A
c.1518-747C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165787058
chr3:165787174 G
G
 A
A
 1 a0001c0001t0001g0162
a0001c0001t0001g0162
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.1518-863C>T
c.1518-863C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165787174
chr3:165787389 A
A
 G
G
 69 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(66): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0126
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0209
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0005t0001g0142
a0005c0007t0001g0186
 91 HG00099.hp1
HG00544.hp2
HG00609.hp1
others(88): Show 
HG00099.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02523.hp2
HG02559.hp1
HG02735.hp2
HG02738.hp2
HG02896.hp2
HG03239.hp1
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp2
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp2
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19060.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1518-1078T>C
c.1518-1078T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165787389
chr3:165787486 A
A
 G
G
 80 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(77): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0209
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0005t0001g0142
a0005c0007t0001g0186
 102 HG00099.hp1
HG00140.hp1
HG00544.hp2
others(99): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02683.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG03239.hp1
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp2
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19060.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1518-1175T>C
c.1518-1175T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165787486
chr3:165787632 C
C
 T
T
 80 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(77): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0209
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0005t0001g0142
a0005c0007t0001g0186
 102 HG00099.hp1
HG00140.hp1
HG00544.hp2
others(99): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02683.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG03239.hp1
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp2
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19060.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1518-1321G>A
c.1518-1321G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165787632
chr3:165787737 C
C
 T
T
 221 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(218): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 274 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(271): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-1426G>A
c.1518-1426G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165787737
chr3:165787799 T
T
 C
C
 5 a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
others(2): Show 
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 11 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(8): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-1488A>G
c.1518-1488A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165787799
chr3:165787928 A
A
 G
G
 7 a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0114
others(4): Show 
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
 10 HG02451.hp1
HG02615.hp1
HG02647.hp1
others(7): Show 
HG02451.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG03098.hp1
HG03516.hp2
NA18522.hp1
NA20300.hp1
 intron_variant MODIFIER c.1518-1617T>C
c.1518-1617T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165787928
chr3:165787971 T
T
 G
G
 114 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(111): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0209
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0009g0103
a0005c0007t0001g0186
a0006c0006t0002g0094
 140 HG00099.hp1
HG00140.hp1
HG00544.hp1
others(137): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1518-1660A>C
c.1518-1660A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165787971
chr3:165788069 T
T
 C
C
 131 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(128): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0209
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 160 HG00099.hp1
HG00140.hp1
HG00544.hp1
others(157): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1518-1758A>G
c.1518-1758A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165788069
chr3:165788098 G
G
 C
C
 22 a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
others(19): Show 
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
 28 HG00140.hp2
HG01106.hp2
HG01358.hp2
others(25): Show 
HG00140.hp2
HG01106.hp2
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02109.hp1
HG02280.hp2
HG02451.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03490.hp1
HG03516.hp2
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.1518-1787C>G
c.1518-1787C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165788098
chr3:165788114 GTTTGT
GTTTGT
 G
G
 246 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(243): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0006
a0001c0001t0003g0031
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0042
a0001c0001t0003g0043
a0001c0001t0003g0046
a0001c0001t0003g0052
a0001c0001t0003g0053
a0001c0001t0003g0072
a0001c0001t0003g0075
a0001c0001t0003g0076
a0001c0001t0003g0077
a0001c0001t0003g0078
a0001c0001t0003g0079
a0001c0001t0003g0080
a0001c0001t0003g0081
a0001c0001t0003g0082
a0001c0001t0003g0083
a0001c0001t0003g0084
a0001c0001t0003g0085
a0001c0001t0003g0086
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0090
a0001c0001t0003g0091
a0001c0001t0003g0092
a0001c0001t0003g0093
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 300 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(297): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-1808_1518-180
others(9): Show 
c.1518-1808_1518-1804delACAAA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165788114
chr3:165788219 G
G
 T
T
 1 a0001c0001t0001g0216
a0001c0001t0001g0216
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.1518-1908C>A
c.1518-1908C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165788219
chr3:165788288 C
C
 T
T
 1 a0001c0001t0001g0203
a0001c0001t0001g0203
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.1518-1977G>A
c.1518-1977G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165788288
chr3:165788355 A
A
 T
T
 2 a0001c0001t0006g0224
a0001c0001t0006g0228
a0001c0001t0006g0224
a0001c0001t0006g0228
 2 HG02895.hp1
HG02897.hp2
HG02895.hp1
HG02897.hp2
 intron_variant MODIFIER c.1518-2044T>A
c.1518-2044T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165788355
chr3:165788464 A
A
 C
C
 160 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(157): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0209
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 197 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(194): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1518-2153T>G
c.1518-2153T>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165788464
chr3:165788679 C
C
 T
T
 14 a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
others(11): Show 
a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
 17 HG00140.hp2
HG01106.hp2
HG01358.hp2
others(14): Show 
HG00140.hp2
HG01106.hp2
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02109.hp1
HG02280.hp2
HG02723.hp1
HG02886.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03490.hp1
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.1518-2368G>A
c.1518-2368G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165788679
chr3:165788731 G
G
 A
A
 3 a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
 3 HG01346.hp1
HG02486.hp2
NA19240.hp2
HG01346.hp1
HG02486.hp2
NA19240.hp2
 intron_variant MODIFIER c.1518-2420C>T
c.1518-2420C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165788731
chr3:165788971 C
C
 T
T
 3 a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
 3 HG01346.hp1
HG02486.hp2
NA19240.hp2
HG01346.hp1
HG02486.hp2
NA19240.hp2
 intron_variant MODIFIER c.1518-2660G>A
c.1518-2660G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165788971
chr3:165789056 A
A
 G
G
 1 a0001c0001t0001g0125
a0001c0001t0001g0125
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.1518-2745T>C
c.1518-2745T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165789056
chr3:165789161 G
G
 A
A
 1 a0002c0002t0002g0068
a0002c0002t0002g0068
 1 NA19060.hp2
NA19060.hp2
 intron_variant MODIFIER c.1518-2850C>T
c.1518-2850C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165789161
chr3:165789162 T
T
 A
A
 1 a0001c0001t0001g0126
a0001c0001t0001g0126
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.1518-2851A>T
c.1518-2851A>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165789162
chr3:165789235 C
C
 T
T
 1 a0001c0001t0001g0127
a0001c0001t0001g0127
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1518-2924G>A
c.1518-2924G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165789235
chr3:165789294 C
C
 CA
CA
 51 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(48): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0163
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0002c0002t0002g0055
a0002c0002t0002g0106
 61 HG00099.hp2
HG00423.hp2
HG00621.hp1
others(58): Show 
HG00099.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01934.hp1
HG01943.hp2
HG02015.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03669.hp1
HG03704.hp1
HG04184.hp2
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18957.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18978.hp2
NA18982.hp2
NA18985.hp1
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.1518-2984dupT
c.1518-2984dupT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165789294
chr3:165789312 C
C
 CT
CT
 220 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(217): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 273 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(270): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-3002dupA
c.1518-3002dupA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165789312
chr3:165789375 T
T
 G
G
 1 a0001c0001t0001g0213
a0001c0001t0001g0213
 1 NA19077.hp2
NA19077.hp2
 intron_variant MODIFIER c.1518-3064A>C
c.1518-3064A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165789375
chr3:165789406 A
A
 G
G
 5 a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
others(2): Show 
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 5 HG01433.hp2
HG02895.hp1
HG02897.hp2
others(2): Show 
HG01433.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG03225.hp2
 intron_variant MODIFIER c.1518-3095T>C
c.1518-3095T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165789406
chr3:165789633 T
T
 C
C
 5 a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
others(2): Show 
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 11 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(8): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-3322A>G
c.1518-3322A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165789633
chr3:165789760 G
G
 T
T
 3 a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0049
 4 HG02717.hp1
HG03041.hp2
HG03486.hp2
others(1): Show 
HG02717.hp1
HG03041.hp2
HG03486.hp2
NA20129.hp1
 intron_variant MODIFIER c.1518-3449C>A
c.1518-3449C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165789760
chr3:165789785 A
A
 G
G
 1 a0001c0001t0001g0232
a0001c0001t0001g0232
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.1518-3474T>C
c.1518-3474T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165789785
chr3:165789963 A
A
 G
G
 13 a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
others(10): Show 
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0004c0004t0004g0032
 19 HG01256.hp1
HG01258.hp2
HG01346.hp1
others(16): Show 
HG01256.hp1
HG01258.hp2
HG01346.hp1
HG01517.hp2
HG01934.hp2
HG02055.hp1
HG02109.hp2
HG02258.hp2
HG02486.hp2
HG02572.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG02965.hp2
HG03540.hp2
HG03654.hp2
HG03927.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-3652T>C
c.1518-3652T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165789963
chr3:165790043 G
G
 A
A
 4 a0001c0001t0001g0021
a0001c0001t0001g0164
a0001c0001t0001g0179
others(1): Show 
a0001c0001t0001g0021
a0001c0001t0001g0164
a0001c0001t0001g0179
a0001c0001t0001g0180
 5 HG02040.hp2
HG02155.hp2
HG02165.hp2
others(2): Show 
HG02040.hp2
HG02155.hp2
HG02165.hp2
NA18944.hp1
NA19000.hp2
 intron_variant MODIFIER c.1518-3732C>T
c.1518-3732C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165790043
chr3:165790191 C
C
 A
A
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.1518-3880G>T
c.1518-3880G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165790191
chr3:165790314 T
T
 G
G
 131 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(128): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0209
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 160 HG00099.hp1
HG00140.hp1
HG00544.hp1
others(157): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1518-4003A>C
c.1518-4003A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165790314
chr3:165790433 C
C
 T
T
 48 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(45): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 58 HG00099.hp2
HG00423.hp2
HG00621.hp1
others(55): Show 
HG00099.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01934.hp1
HG01943.hp2
HG02015.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03669.hp1
HG03704.hp1
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18957.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.1518-4122G>A
c.1518-4122G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165790433
chr3:165790611 C
C
 T
T
 1 a0001c0001t0001g0169
a0001c0001t0001g0169
 1 HG01256.hp2
HG01256.hp2
 intron_variant MODIFIER c.1518-4300G>A
c.1518-4300G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165790611
chr3:165790653 G
G
 T
T
 22 a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
others(19): Show 
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
 28 HG00140.hp2
HG01106.hp2
HG01358.hp2
others(25): Show 
HG00140.hp2
HG01106.hp2
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02109.hp1
HG02280.hp2
HG02451.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03490.hp1
HG03516.hp2
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.1518-4342C>A
c.1518-4342C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165790653
chr3:165790654 A
A
 G
G
 22 a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
others(19): Show 
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
 28 HG00140.hp2
HG01106.hp2
HG01358.hp2
others(25): Show 
HG00140.hp2
HG01106.hp2
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02109.hp1
HG02280.hp2
HG02451.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03490.hp1
HG03516.hp2
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.1518-4343T>C
c.1518-4343T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165790654
chr3:165790818 T
T
 C
C
 48 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(45): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 58 HG00099.hp2
HG00423.hp2
HG00621.hp1
others(55): Show 
HG00099.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01934.hp1
HG01943.hp2
HG02015.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03669.hp1
HG03704.hp1
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18957.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.1518-4507A>G
c.1518-4507A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165790818
chr3:165790840 AG
AG
 A
A
 80 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(77): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0209
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0005t0001g0142
a0005c0007t0001g0186
 102 HG00099.hp1
HG00140.hp1
HG00544.hp2
others(99): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02683.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG03239.hp1
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp2
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19060.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1518-4530delC
c.1518-4530delC
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165790840
chr3:165790880 G
G
 C
C
 9 a0001c0001t0001g0008
a0001c0001t0001g0151
a0001c0001t0001g0167
others(6): Show 
a0001c0001t0001g0008
a0001c0001t0001g0151
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
 11 HG01257.hp1
HG01261.hp1
HG01346.hp2
others(8): Show 
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01943.hp1
HG01978.hp1
HG02129.hp1
NA18955.hp1
NA18971.hp1
NA19068.hp1
 intron_variant MODIFIER c.1518-4569C>G
c.1518-4569C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165790880
chr3:165791089 G
G
 T
T
 80 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(77): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0209
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0005t0001g0142
a0005c0007t0001g0186
 102 HG00099.hp1
HG00140.hp1
HG00544.hp2
others(99): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02683.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG03239.hp1
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp2
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19060.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1518-4778C>A
c.1518-4778C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165791089
chr3:165791123 C
C
 T
T
 8 a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
others(5): Show 
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
 8 HG01346.hp1
HG02055.hp1
HG02109.hp2
others(5): Show 
HG01346.hp1
HG02055.hp1
HG02109.hp2
HG02258.hp2
HG02486.hp2
HG02572.hp2
HG02965.hp2
NA19240.hp2
 intron_variant MODIFIER c.1518-4812G>A
c.1518-4812G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165791123
chr3:165791148 A
A
 C
C
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.1518-4837T>G
c.1518-4837T>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165791148
chr3:165791299 G
G
 A
A
 1 a0002c0002t0008g0119
a0002c0002t0008g0119
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1518-4988C>T
c.1518-4988C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165791299
chr3:165791453 G
G
 A
A
 131 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(128): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0209
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 160 HG00099.hp1
HG00140.hp1
HG00544.hp1
others(157): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1518-5142C>T
c.1518-5142C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165791453
chr3:165791464 A
A
 G
G
 2 a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0054
a0002c0002t0002g0055
 2 HG02109.hp2
HG02572.hp2
HG02109.hp2
HG02572.hp2
 intron_variant MODIFIER c.1518-5153T>C
c.1518-5153T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165791464
chr3:165791749 G
G
 A
A
 48 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(45): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 58 HG00099.hp2
HG00423.hp2
HG00621.hp1
others(55): Show 
HG00099.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01934.hp1
HG01943.hp2
HG02015.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03669.hp1
HG03704.hp1
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18957.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.1518-5438C>T
c.1518-5438C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165791749
chr3:165791841 G
G
 C
C
 48 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(45): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 58 HG00099.hp2
HG00423.hp2
HG00621.hp1
others(55): Show 
HG00099.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01934.hp1
HG01943.hp2
HG02015.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03669.hp1
HG03704.hp1
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18957.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.1518-5530C>G
c.1518-5530C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165791841
chr3:165791948 A
A
 AAAAAT
AAAAAT
 25 a0001c0001t0001g0011
a0001c0001t0001g0058
a0001c0001t0001g0059
others(22): Show 
a0001c0001t0001g0011
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0125
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0149
a0001c0001t0001g0171
a0001c0001t0001g0232
a0001c0001t0002g0045
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0003g0052
a0001c0001t0003g0093
a0001c0001t0003g0134
a0002c0002t0002g0062
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
 33 HG00140.hp1
HG00642.hp2
HG01074.hp1
others(30): Show 
HG00140.hp1
HG00642.hp2
HG01074.hp1
HG01106.hp1
HG01167.hp1
HG01256.hp1
HG01258.hp2
HG01346.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp2
HG01978.hp2
HG02145.hp1
HG02486.hp2
HG02602.hp2
HG02683.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02896.hp1
HG02897.hp1
HG03098.hp2
HG03209.hp1
HG03540.hp2
HG03654.hp2
HG03704.hp2
HG03927.hp2
NA18980.hp1
NA19030.hp1
NA19083.hp2
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-5642_1518-563
others(9): Show 
c.1518-5642_1518-5638dupATTTT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165791948
chr3:165791948 A
A
 AAAAATAA
others(3): Show 
AAAAATAAAAT
 16 a0001c0001t0001g0048
a0001c0001t0001g0160
a0001c0001t0001g0187
others(13): Show 
a0001c0001t0001g0048
a0001c0001t0001g0160
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0194
a0001c0001t0001g0200
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0216
a0001c0001t0002g0005
a0001c0001t0002g0019
a0002c0002t0008g0119
a0002c0002t0008g0121
a0004c0004t0004g0032
 19 HG00621.hp1
HG00673.hp2
HG02080.hp1
others(16): Show 
HG00621.hp1
HG00673.hp2
HG02080.hp1
HG02083.hp1
HG02258.hp2
HG02615.hp1
HG02622.hp1
HG02735.hp1
HG02922.hp2
HG02965.hp2
HG03098.hp1
HG03516.hp2
HG03669.hp1
NA18522.hp1
NA18939.hp1
NA19012.hp1
NA19012.hp2
NA19070.hp2
NA21309.hp1
 intron_variant MODIFIER c.1518-5647_1518-563
others(14): Show 
c.1518-5647_1518-5638dupATTTTATTTT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165791948
chr3:165791948 A
A
 AAAAATAA
others(8): Show 
AAAAATAAAATAAAAT
 32 a0001c0001t0001g0009
a0001c0001t0001g0014
a0001c0001t0001g0025
others(29): Show 
a0001c0001t0001g0009
a0001c0001t0001g0014
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0122
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0212
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0002g0114
a0001c0001t0002g0117
a0001c0001t0002g0118
a0002c0002t0008g0120
 38 HG00099.hp2
HG00423.hp2
HG00639.hp1
others(35): Show 
HG00099.hp2
HG00423.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01934.hp1
HG01943.hp2
HG02015.hp1
HG02055.hp1
HG02074.hp1
HG02129.hp2
HG02155.hp1
HG02273.hp2
HG02293.hp2
HG02451.hp1
HG02523.hp1
HG02647.hp1
HG02717.hp1
HG02818.hp1
HG03041.hp2
HG03486.hp2
NA18747.hp2
NA18952.hp1
NA18957.hp1
NA18960.hp1
NA18973.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18999.hp2
NA19064.hp1
NA19081.hp1
NA19083.hp1
NA20129.hp1
 intron_variant MODIFIER c.1518-5652_1518-563
others(19): Show 
c.1518-5652_1518-5638dupATTTTATTTTATTTT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165791948
chr3:165791948 A
A
 AAAAATAA
others(13): Show 
AAAAATAAAATAAAATAAAAT
 10 a0001c0001t0001g0013
a0001c0001t0001g0027
a0001c0001t0001g0051
others(7): Show 
a0001c0001t0001g0013
a0001c0001t0001g0027
a0001c0001t0001g0051
a0001c0001t0001g0113
a0001c0001t0001g0199
a0001c0001t0001g0202
a0001c0001t0001g0213
a0001c0001t0001g0229
a0002c0002t0002g0054
a0002c0002t0002g0055
 12 HG02109.hp2
HG02258.hp1
HG02572.hp2
others(9): Show 
HG02109.hp2
HG02258.hp1
HG02572.hp2
HG02647.hp2
HG02965.hp1
HG03471.hp1
HG03704.hp1
NA18966.hp2
NA18994.hp1
NA19077.hp2
NA19086.hp2
NA19240.hp2
 intron_variant MODIFIER c.1518-5657_1518-563
others(24): Show 
c.1518-5657_1518-5638dupATTTTATTTTATTTTATTTT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165791948
chr3:165791948 A
A
 AAAAATAA
others(18): Show 
AAAAATAAAATAAAATAAAATAAAAT
 6 a0001c0001t0001g0050
a0001c0001t0001g0210
a0001c0001t0006g0224
others(3): Show 
a0001c0001t0001g0050
a0001c0001t0001g0210
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0006g0228
 6 HG02145.hp2
HG02895.hp1
HG02897.hp2
others(3): Show 
HG02145.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG03225.hp2
NA18978.hp2
 intron_variant MODIFIER c.1518-5662_1518-563
others(29): Show 
c.1518-5662_1518-5638dupATTTTATTTTATTTTATTTTATTTT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165791948
chr3:165791948 A
A
 AAAAATAA
others(23): Show 
AAAAATAAAATAAAATAAAATAAAATAAAAT
 1 a0001c0001t0006g0226
a0001c0001t0006g0226
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.1518-5667_1518-563
others(34): Show 
c.1518-5667_1518-5638dupATTTTATTTTATTTTATTTTATTTTA
TTTT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165791948
chr3:165791948 AAAAATAA
others(3): Show 
AAAAATAAAAT
 A
A
 3 a0001c0001t0001g0158
a0001c0001t0001g0185
a0002c0002t0002g0110
a0001c0001t0001g0158
a0001c0001t0001g0185
a0002c0002t0002g0110
 3 HG00544.hp1
HG01074.hp2
HG02056.hp1
HG00544.hp1
HG01074.hp2
HG02056.hp1
 intron_variant MODIFIER c.1518-5647_1518-563
others(14): Show 
c.1518-5647_1518-5638delATTTTATTTT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165791948
chr3:165791988 T
T
 TAAAATAA
others(8): Show 
TAAAATAAAATAAAAC
 7 a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
others(4): Show 
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0248
 7 HG00140.hp2
HG01106.hp2
HG01361.hp2
others(4): Show 
HG00140.hp2
HG01106.hp2
HG01361.hp2
HG02280.hp2
HG02723.hp1
HG03041.hp1
HG03490.hp1
 intron_variant MODIFIER c.1518-5678_1518-567
others(19): Show 
c.1518-5678_1518-5677insGTTTTATTTTATTTT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165791988
chr3:165791988 T
T
 TAAAATAA
others(13): Show 
TAAAATAAAATAAAATAAAAC
 6 a0001c0001t0002g0012
a0001c0001t0002g0241
a0001c0001t0002g0242
others(3): Show 
a0001c0001t0002g0012
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0010g0249
 8 HG01358.hp2
HG02109.hp1
HG02886.hp1
others(5): Show 
HG01358.hp2
HG02109.hp1
HG02886.hp1
HG02976.hp2
HG03130.hp1
HG03195.hp1
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.1518-5678_1518-567
others(24): Show 
c.1518-5678_1518-5677insGTTTTATTTTATTTTATTTT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165791988
chr3:165791988 T
T
 TAAAATAA
others(33): Show 
TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAC
 1 a0001c0001t0002g0030
a0001c0001t0002g0030
 2 HG01891.hp1
HG03209.hp2
HG01891.hp1
HG03209.hp2
 intron_variant MODIFIER c.1518-5678_1518-567
others(44): Show 
c.1518-5678_1518-5677insGTTTTATTTTATTTTATTTTATTTTA
TTTTATTTTATTTT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165791988
chr3:165792028 T
T
 C
C
 48 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(45): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 58 HG00099.hp2
HG00423.hp2
HG00621.hp1
others(55): Show 
HG00099.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01934.hp1
HG01943.hp2
HG02015.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03669.hp1
HG03704.hp1
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18957.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.1518-5717A>G
c.1518-5717A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165792028
chr3:165792099 G
G
 A
A
 216 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(213): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 263 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(260): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1518-5788C>T
c.1518-5788C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165792099
chr3:165792099 G
G
 C
C
 5 a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
others(2): Show 
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 11 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(8): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-5788C>G
c.1518-5788C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165792099
chr3:165792269 C
C
 A
A
 1 a0001c0001t0001g0127
a0001c0001t0001g0127
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1518-5958G>T
c.1518-5958G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165792269
chr3:165792344 C
C
 T
T
 1 a0001c0001t0001g0167
a0001c0001t0001g0167
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.1518-6033G>A
c.1518-6033G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165792344
chr3:165792360 G
G
 A
A
 3 a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
 3 HG01346.hp1
HG02486.hp2
NA19240.hp2
HG01346.hp1
HG02486.hp2
NA19240.hp2
 intron_variant MODIFIER c.1518-6049C>T
c.1518-6049C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165792360
chr3:165792588 A
A
 G
G
 5 a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
others(2): Show 
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 11 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(8): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-6277T>C
c.1518-6277T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165792588
chr3:165792677 G
G
 T
T
 9 a0001c0001t0001g0007
a0001c0001t0001g0023
a0001c0001t0001g0037
others(6): Show 
a0001c0001t0001g0007
a0001c0001t0001g0023
a0001c0001t0001g0037
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0155
a0001c0001t0001g0170
a0001c0001t0001g0181
a0001c0001t0001g0187
 12 HG02015.hp2
NA18939.hp1
NA18945.hp1
others(9): Show 
HG02015.hp2
NA18939.hp1
NA18945.hp1
NA18965.hp2
NA18980.hp2
NA18984.hp1
NA18991.hp2
NA18998.hp2
NA19000.hp1
NA19065.hp1
NA19074.hp2
NA19083.hp2
 intron_variant MODIFIER c.1518-6366C>A
c.1518-6366C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165792677
chr3:165792710 A
A
 T
T
 4 a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
others(1): Show 
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
 5 HG01496.hp2
HG02055.hp2
HG02615.hp2
others(2): Show 
HG01496.hp2
HG02055.hp2
HG02615.hp2
HG02976.hp1
NA19043.hp1
 intron_variant MODIFIER c.1518-6399T>A
c.1518-6399T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165792710
chr3:165792766 C
C
 G
G
 1 a0001c0001t0001g0036
a0001c0001t0001g0036
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.1518-6455G>C
c.1518-6455G>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165792766
chr3:165792834 G
G
 T
T
 1 a0001c0001t0001g0236
a0001c0001t0001g0236
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.1518-6523C>A
c.1518-6523C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165792834
chr3:165793030 A
A
 T
T
 1 a0001c0001t0003g0092
a0001c0001t0003g0092
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.1518-6719T>A
c.1518-6719T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165793030
chr3:165793284 A
A
 T
T
 1 a0002c0002t0002g0100
a0002c0002t0002g0100
 1 NA18965.hp1
NA18965.hp1
 intron_variant MODIFIER c.1518-6973T>A
c.1518-6973T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165793284
chr3:165793355 T
T
 C
C
 1 a0002c0002t0002g0100
a0002c0002t0002g0100
 1 NA18965.hp1
NA18965.hp1
 intron_variant MODIFIER c.1518-7044A>G
c.1518-7044A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165793355
chr3:165793650 G
G
 A
A
 3 a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
 3 HG01346.hp1
HG02486.hp2
NA19240.hp2
HG01346.hp1
HG02486.hp2
NA19240.hp2
 intron_variant MODIFIER c.1518-7339C>T
c.1518-7339C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165793650
chr3:165793758 G
G
 A
A
 1 a0007c0008t0003g0041
a0007c0008t0003g0041
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.1518-7447C>T
c.1518-7447C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165793758
chr3:165793875 G
G
 A
A
 4 a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
others(1): Show 
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
 5 HG01496.hp2
HG02055.hp2
HG02615.hp2
others(2): Show 
HG01496.hp2
HG02055.hp2
HG02615.hp2
HG02976.hp1
NA19043.hp1
 intron_variant MODIFIER c.1518-7564C>T
c.1518-7564C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165793875
chr3:165793901 G
G
 A
A
 29 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(26): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
 37 HG00140.hp2
HG01106.hp2
HG01358.hp2
others(34): Show 
HG00140.hp2
HG01106.hp2
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02109.hp1
HG02145.hp2
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03486.hp2
HG03490.hp1
HG03516.hp2
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.1518-7590C>T
c.1518-7590C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165793901
chr3:165793923 T
T
 C
C
 1 a0001c0001t0001g0125
a0001c0001t0001g0125
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.1518-7612A>G
c.1518-7612A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165793923
chr3:165793955 G
G
 A
A
 3 a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
 3 HG01346.hp1
HG02486.hp2
NA19240.hp2
HG01346.hp1
HG02486.hp2
NA19240.hp2
 intron_variant MODIFIER c.1518-7644C>T
c.1518-7644C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165793955
chr3:165794050 TA
TA
 T
T
 5 a0001c0001t0001g0194
a0001c0001t0003g0006
a0001c0001t0003g0046
others(2): Show 
a0001c0001t0001g0194
a0001c0001t0003g0006
a0001c0001t0003g0046
a0001c0001t0003g0139
a0002c0002t0002g0106
 7 HG02559.hp2
HG02622.hp2
HG02818.hp2
others(4): Show 
HG02559.hp2
HG02622.hp2
HG02818.hp2
HG03195.hp2
HG03669.hp1
NA18522.hp2
NA18985.hp1
 intron_variant MODIFIER c.1518-7740delT
c.1518-7740delT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165794050
chr3:165794170 T
T
 C
C
 1 a0001c0001t0001g0212
a0001c0001t0001g0212
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.1518-7859A>G
c.1518-7859A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165794170
chr3:165794185 G
G
 C
C
 1 a0001c0001t0003g0053
a0001c0001t0003g0053
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.1518-7874C>G
c.1518-7874C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165794185
chr3:165794185 G
G
 T
T
 1 a0002c0002t0002g0061
a0002c0002t0002g0061
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.1518-7874C>A
c.1518-7874C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165794185
chr3:165794245 A
A
 G
G
 5 a0001c0001t0001g0027
a0001c0001t0001g0207
a0001c0001t0001g0208
others(2): Show 
a0001c0001t0001g0027
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0231
 6 NA18952.hp1
NA18966.hp2
NA18973.hp2
others(3): Show 
NA18952.hp1
NA18966.hp2
NA18973.hp2
NA18991.hp1
NA18994.hp1
NA19070.hp2
 intron_variant MODIFIER c.1518-7934T>C
c.1518-7934T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165794245
chr3:165794310 A
A
 C
C
 1 a0001c0001t0001g0213
a0001c0001t0001g0213
 1 NA19077.hp2
NA19077.hp2
 intron_variant MODIFIER c.1518-7999T>G
c.1518-7999T>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165794310
chr3:165794599 A
A
 G
G
 1 a0001c0001t0001g0169
a0001c0001t0001g0169
 1 HG01256.hp2
HG01256.hp2
 intron_variant MODIFIER c.1518-8288T>C
c.1518-8288T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165794599
chr3:165794631 C
C
 T
T
 1 a0001c0001t0001g0206
a0001c0001t0001g0206
 1 NA18999.hp2
NA18999.hp2
 intron_variant MODIFIER c.1518-8320G>A
c.1518-8320G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165794631
chr3:165794724 G
G
 A
A
 1 a0001c0001t0003g0138
a0001c0001t0003g0138
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.1518-8413C>T
c.1518-8413C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165794724
chr3:165794749 CAT
CAT
 C
C
 2 a0001c0001t0001g0130
a0001c0001t0003g0031
a0001c0001t0001g0130
a0001c0001t0003g0031
 3 HG01255.hp1
HG02451.hp2
HG03540.hp1
HG01255.hp1
HG02451.hp2
HG03540.hp1
 intron_variant MODIFIER c.1518-8440_1518-843
others(6): Show 
c.1518-8440_1518-8439delAT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165794749
chr3:165794768 G
G
 A
A
 22 a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
others(19): Show 
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
 28 HG00140.hp2
HG01106.hp2
HG01358.hp2
others(25): Show 
HG00140.hp2
HG01106.hp2
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02109.hp1
HG02280.hp2
HG02451.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03490.hp1
HG03516.hp2
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.1518-8457C>T
c.1518-8457C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165794768
chr3:165794820 T
T
 C
C
 1 a0005c0007t0001g0186
a0005c0007t0001g0186
 1 NA18968.hp2
NA18968.hp2
 intron_variant MODIFIER c.1518-8509A>G
c.1518-8509A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165794820
chr3:165794895 A
A
 G
G
 1 a0001c0001t0002g0243
a0001c0001t0002g0243
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.1518-8584T>C
c.1518-8584T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165794895
chr3:165794982 A
A
 G
G
 1 a0001c0001t0001g0232
a0001c0001t0001g0232
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.1518-8671T>C
c.1518-8671T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165794982
chr3:165795219 G
G
 A
A
 1 a0001c0001t0001g0166
a0001c0001t0001g0166
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.1518-8908C>T
c.1518-8908C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165795219
chr3:165795387 ATAACTGT
others(640): Show 
ATAACTGTATTCTTTTTGTTTTCTGGAAGATGTAATAAAGGCAGAAAAAA
TTAGTTACCAAAGCAATGTGAACTGTATAATAATGCAGCTGTGCATAGAG
AATGTAAGAGGATTATTTGCAATTTAGATTATATTTAATGCAAATATCTC
AATCTAGTTCACTTTTATTAGTTGCTTCCTCCCATCTCCAGACATTTCTA
TTGCTAACGGTAGAAATGAGAAAAATAATTACCGAAGAACAATTCCCTAG
ATTCATTATAGTTTGTTCAGTTTTTTTCTTAGTTAAATAATAAGGTTTGC
TATTTTTGGGCAGGAATCAAGGTACCTAGAGGGACAGGATTATAATAGCA
TACCTTAGAAATTTGCAAAAATTCATAAATTAACTAAGGATGATTTCTTG
TATCTAAATATACTGTGCTATAAGAGTCCATGGCCAAGTAGCTTATTAAA
CTTTTACTGTTTCATCATTCCTGACTTGTGGATTGGAATACATCCTCAGC
TTCACAGAGAATTTGGATATAGGTTTTTATGAGAAAAAAGAAGGGAAGAG
AAAGGGAGAGGAGAGGAGAAGAGGAGAAGAGAAGAACCCCACAGGAAATA
TATAATCTGTATGATCCTTTACACAAATTTGATCAAAGGCAAAACATT
 A
A
 1 a0001c0001t0001g0173
a0001c0001t0001g0173
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.1518-9723_1518-907
others(4): Show 
c.1518-9723_1518-9077del
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165795387
chr3:165795527 C
C
 A
A
 1 a0001c0001t0001g0202
a0001c0001t0001g0202
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1518-9216G>T
c.1518-9216G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165795527
chr3:165795786 G
G
 C
C
 22 a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
others(19): Show 
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
 28 HG00140.hp2
HG01106.hp2
HG01358.hp2
others(25): Show 
HG00140.hp2
HG01106.hp2
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02109.hp1
HG02280.hp2
HG02451.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03490.hp1
HG03516.hp2
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.1518-9475C>G
c.1518-9475C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165795786
chr3:165795843 C
C
 T
T
 1 a0001c0001t0003g0080
a0001c0001t0003g0080
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.1518-9532G>A
c.1518-9532G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165795843
chr3:165795898 T
T
 C
C
 8 a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
others(5): Show 
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
 8 HG01346.hp1
HG02055.hp1
HG02109.hp2
others(5): Show 
HG01346.hp1
HG02055.hp1
HG02109.hp2
HG02258.hp2
HG02486.hp2
HG02572.hp2
HG02965.hp2
NA19240.hp2
 intron_variant MODIFIER c.1518-9587A>G
c.1518-9587A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165795898
chr3:165796089 C
C
 T
T
 3 a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
 3 HG02055.hp1
HG02258.hp2
HG02965.hp2
HG02055.hp1
HG02258.hp2
HG02965.hp2
 intron_variant MODIFIER c.1518-9778G>A
c.1518-9778G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165796089
chr3:165796115 C
C
 T
T
 2 a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0070
a0001c0001t0001g0071
 2 HG01346.hp1
HG02486.hp2
HG01346.hp1
HG02486.hp2
 intron_variant MODIFIER c.1518-9804G>A
c.1518-9804G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165796115
chr3:165797096 C
C
 A
A
 1 a0001c0001t0001g0232
a0001c0001t0001g0232
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.1518-10785G>T
c.1518-10785G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797096
chr3:165797124 C
C
 T
T
 12 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(9): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 20 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(17): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02145.hp2
HG02258.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp1
HG02965.hp1
HG03041.hp2
HG03486.hp2
HG03540.hp2
HG03654.hp2
HG03927.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-10813G>A
c.1518-10813G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797124
chr3:165797137 C
C
 A
A
 12 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(9): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 20 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(17): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02145.hp2
HG02258.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp1
HG02965.hp1
HG03041.hp2
HG03486.hp2
HG03540.hp2
HG03654.hp2
HG03927.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-10826G>T
c.1518-10826G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797137
chr3:165797189 G
G
 C
C
 56 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(53): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0127
a0001c0001t0001g0185
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0118
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0002c0002t0002g0054
a0002c0002t0002g0055
 69 HG00099.hp2
HG00423.hp2
HG00621.hp1
others(66): Show 
HG00099.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01074.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01934.hp1
HG01943.hp2
HG02015.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03516.hp2
HG03669.hp1
HG03704.hp1
NA18522.hp1
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18957.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19012.hp1
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.1518-10878C>G
c.1518-10878C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797189
chr3:165797190 T
T
 C
C
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.1518-10879A>G
c.1518-10879A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797190
chr3:165797193 T
T
 C
C
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.1518-10882A>G
c.1518-10882A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797193
chr3:165797195 C
C
 T
T
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.1518-10884G>A
c.1518-10884G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797195
chr3:165797199 C
C
 CCCTCCCC
others(112): Show 
CCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCT
CCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCT
CCCTCCCTCCCCCCTCCCTT
 1 a0001c0001t0001g0196
a0001c0001t0001g0196
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.1518-10889_1518-10
others(125): Show 
c.1518-10889_1518-10888insAAGGGAGGGGGGAGGGAGGGAGGA
AGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGG
AGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAAGGGAGGGGGGAGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797199
chr3:165797199 C
C
 T
T
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.1518-10888G>A
c.1518-10888G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797199
chr3:165797218 T
T
 C
C
 2 a0001c0001t0001g0185
a0001c0001t0001g0196
a0001c0001t0001g0185
a0001c0001t0001g0196
 2 HG01074.hp2
NA18957.hp1
HG01074.hp2
NA18957.hp1
 intron_variant MODIFIER c.1518-10907A>G
c.1518-10907A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797218
chr3:165797218 T
T
 TTCCCTCC
others(172): Show 
TTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCTTCCCTCCCTCCCCCCTCC
CTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTC
CTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCC
CCTCCCTTCCTTCCTTCCTTCCTTCCTCCC
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.1518-10908_1518-10
others(185): Show 
c.1518-10908_1518-10907insGGGAGGAAGGAAGGAAGGAAGGAA
GGGAGGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGA
AGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGA
AGGAAGGGAGGGGGGAGGGAGGGAAGAAGGAAGGAGGGAAGGAAGGAAGG
AGGGA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797218
chr3:165797218 T
T
 TTCCCTCC
others(171): Show 
TTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCTTCCCTCCCTCCCCCCTCC
CTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTC
CTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCC
CTCCCTTCCTTCCTTCCTTCCTTCCTCCC
 1 a0001c0001t0001g0214
a0001c0001t0001g0214
 1 NA18973.hp2
NA18973.hp2
 intron_variant MODIFIER c.1518-10908_1518-10
others(184): Show 
c.1518-10908_1518-10907insGGGAGGAAGGAAGGAAGGAAGGAA
GGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAA
GGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAA
GGAAGGGAGGGGGGAGGGAGGGAAGAAGGAAGGAGGGAAGGAAGGAAGGA
GGGA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797218
chr3:165797218 T
T
 TTCCCTCC
others(140): Show 
TTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCTTCCCTCCCTCCTTCCTCC
CTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTC
CTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCC
 1 a0001c0001t0001g0221
a0001c0001t0001g0221
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.1518-10908_1518-10
others(153): Show 
c.1518-10908_1518-10907insGGGAGGAAGGAAGGAAGGAAGGAA
GGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAA
GGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAA
GGAGGGAAGGAAGGAAGGAGGGA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797218
chr3:165797218 T
T
 TTCCCTCC
others(159): Show 
TTCCCTCCTTCCTTCCTTCCTTCCTTCTTCCCTCCCTCCCCCCTCCCTTC
CTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCCCCTCCCTTCCTTCCTTC
CTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTCCCTTC
CTTCCTTCCTTCCTCCC
 4 a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
others(1): Show 
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
 5 HG01496.hp2
HG02055.hp2
HG02615.hp2
others(2): Show 
HG01496.hp2
HG02055.hp2
HG02615.hp2
HG02976.hp1
NA19043.hp1
 intron_variant MODIFIER c.1518-10908_1518-10
others(172): Show 
c.1518-10908_1518-10907insGGGAGGAAGGAAGGAAGGAAGGGA
GGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAA
GGAAGGGAGGGGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAAGGGA
GGGGGGAGGGAGGGAAGAAGGAAGGAAGGAAGGAAGGAGGGA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797218
chr3:165797218 T
T
 TTCCTTCC
others(236): Show 
TTCCTTCCTTCCCTCCTTCCTTCTTCCCTCCCTCCCCCCTCCCTTCCTTC
CTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTC
CTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTC
CTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTTCCCTCCCTCCTTC
CTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCC
 3 a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0034
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0034
 9 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(6): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02602.hp2
HG02738.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
 intron_variant MODIFIER c.1518-10908_1518-10
others(249): Show 
c.1518-10908_1518-10907insGGGAGGAAGGAAGGAAGGAAGGAA
GGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAGGGAG
GGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAG
GGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGA
GGAAGGAGGGAGGGAAGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAAGAA
GGAAGGAGGGAAGGAAGGA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797218
chr3:165797218 T
T
 TTCCTTCC
others(240): Show 
TTCCTTCCTTCCCTCCTTCCTTCTTCCCTCCCTCCCCCCTCCCTTCCTTC
CTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTC
CTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTC
CTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTTCCCTCCCTCCTTC
CTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTCCC
 1 a0002c0002t0004g0033
a0002c0002t0004g0033
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-10908_1518-10
others(253): Show 
c.1518-10908_1518-10907insGGGAGGAAGGAAGGAAGGAAGGAA
GGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAG
GGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAA
GGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGA
GGGAGGAAGGAGGGAGGGAAGAAGGAAGGAAGGGAGGGGGGAGGGAGGGA
AGAAGGAAGGAGGGAAGGAAGGA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797218
chr3:165797227 T
T
 TC
TC
 64 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(61): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0113
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0010g0249
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
 77 HG00099.hp2
HG00140.hp2
HG00423.hp2
others(74): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01106.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG02055.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02523.hp1
HG02723.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03490.hp1
HG03669.hp1
HG03704.hp1
HG06807.hp2
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.1518-10917dupG
c.1518-10917dupG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797227
chr3:165797229 T
T
 C
C
 161 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(158): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0196
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0221
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0052
a0001c0001t0003g0075
a0001c0001t0003g0076
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 201 HG00099.hp1
HG00140.hp1
HG00544.hp1
others(198): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03486.hp2
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-10918A>G
c.1518-10918A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797229
chr3:165797231 T
T
 C
C
 64 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(61): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0113
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0010g0249
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
 77 HG00099.hp2
HG00140.hp2
HG00423.hp2
others(74): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01106.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG02055.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02523.hp1
HG02723.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03490.hp1
HG03669.hp1
HG03704.hp1
HG06807.hp2
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.1518-10920A>G
c.1518-10920A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797231
chr3:165797233 T
T
 C
C
 143 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(140): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0052
a0001c0001t0003g0075
a0001c0001t0003g0076
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0009g0103
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 176 HG00099.hp1
HG00140.hp1
HG00544.hp1
others(173): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03486.hp2
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03654.hp1
HG03669.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp2
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1518-10922A>G
c.1518-10922A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797233
chr3:165797234 T
T
 TTCCTTCC
others(66): Show 
TTCCTTCCTTCCTTCTTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCTTCC
CTCCCTCCTTCCTCCCTCCCTCCC
 6 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(3): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
 8 HG02145.hp2
HG02258.hp1
HG02622.hp1
others(5): Show 
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02717.hp1
HG02965.hp1
HG03041.hp2
HG03486.hp2
NA20129.hp1
 intron_variant MODIFIER c.1518-10924_1518-10
others(79): Show 
c.1518-10924_1518-10923insGGGAGGGAGGGAGGAAGGAGGGAG
GGAAGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAAGAAGGAAGGAAGGA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797234
chr3:165797235 C
C
 T
T
 137 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(134): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0052
a0001c0001t0003g0075
a0001c0001t0003g0076
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0009g0103
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 168 HG00099.hp1
HG00140.hp1
HG00544.hp1
others(165): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03654.hp1
HG03669.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp2
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1518-10924G>A
c.1518-10924G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797235
chr3:165797238 TC
TC
 T
T
 59 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(56): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0113
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
 72 HG00099.hp2
HG00140.hp2
HG00423.hp2
others(69): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01106.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG02055.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02523.hp1
HG02723.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03471.hp1
HG03490.hp1
HG03669.hp1
HG03704.hp1
HG06807.hp2
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.1518-10928delG
c.1518-10928delG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797238
chr3:165797239 C
C
 T
T
 137 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(134): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0052
a0001c0001t0003g0075
a0001c0001t0003g0076
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0009g0103
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 168 HG00099.hp1
HG00140.hp1
HG00544.hp1
others(165): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03654.hp1
HG03669.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp2
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1518-10928G>A
c.1518-10928G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797239
chr3:165797240 C
C
 CTTCCTT
CTTCCTT
 5 a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
others(2): Show 
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 5 HG01433.hp2
HG02895.hp1
HG02897.hp2
others(2): Show 
HG01433.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG03225.hp2
 intron_variant MODIFIER c.1518-10930_1518-10
others(12): Show 
c.1518-10930_1518-10929insAAGGAA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797240
chr3:165797241 CT
CT
 C
C
 13 a0001c0001t0001g0185
a0001c0001t0001g0196
a0001c0001t0001g0214
others(10): Show 
a0001c0001t0001g0185
a0001c0001t0001g0196
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0221
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
 20 HG01074.hp2
HG01256.hp1
HG01258.hp2
others(17): Show 
HG01074.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp2
HG01517.hp2
HG01934.hp2
HG02015.hp1
HG02055.hp2
HG02074.hp1
HG02602.hp2
HG02615.hp2
HG02738.hp1
HG02976.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
NA18957.hp1
NA18973.hp2
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-10931delA
c.1518-10931delA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797241
chr3:165797242 T
T
 TCCCCCCT
others(258): Show 
TCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC
CCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCC
TCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCC
TCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCC
TCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCC
TTCCTTCTTCCCTCCC
 3 a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
 3 HG02451.hp1
HG02717.hp2
NA20300.hp1
HG02451.hp1
HG02717.hp2
NA20300.hp1
 intron_variant MODIFIER c.1518-10932_1518-10
others(271): Show 
c.1518-10932_1518-10931insGGGAGGGAAGAAGGAAGGAGGGAG
GGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAG
GGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGA
GGAAGGAGGGAGGGAAGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAA
GGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGA
GGGAGGAAGGAGGGAGGGAAGAAGGAAGGAAGGGAGGGGGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797242
chr3:165797242 T
T
 TCCCCCCT
others(273): Show 
TCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC
CCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCC
TCCCTCCCCCCTCCCTTCTTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCC
TTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCC
TTCCTTCCTCCCTCCCTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCC
TCCCCCCTCCCTTCCTTCCTTCCTTCCTTCC
 1 a0004c0004t0004g0032
a0004c0004t0004g0032
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.1518-10932_1518-10
others(286): Show 
c.1518-10932_1518-10931insGGAAGGAAGGAAGGAAGGAAGGGA
GGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAGGGAGGGAG
GAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAG
GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAAGAAGGGAGGGG
GGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAA
GGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAAGGGA
GGGGGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797242
chr3:165797242 T
T
 TCCCCCCT
others(257): Show 
TCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC
CCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCT
CCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCT
CCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCT
CCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCT
TCCTTCTTCCCTCCC
 1 a0001c0001t0002g0114
a0001c0001t0002g0114
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1518-10932_1518-10
others(270): Show 
c.1518-10932_1518-10931insGGGAGGGAAGAAGGAAGGAGGGAG
GGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAG
GGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGA
GGAAGGAGGGAGGGAAGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAA
GGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGAGGGAG
GGAGGAAGGAGGGAGGGAAGAAGGAAGGAAGGGAGGGGGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797242
chr3:165797244 C
C
 CCTT
CCTT
 5 a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0184
others(2): Show 
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0184
a0002c0002t0002g0057
a0002c0002t0002g0100
 5 HG01261.hp1
HG01496.hp1
HG02896.hp2
others(2): Show 
HG01261.hp1
HG01496.hp1
HG02896.hp2
NA18965.hp1
NA19002.hp2
 intron_variant MODIFIER c.1518-10936_1518-10
others(9): Show 
c.1518-10936_1518-10934dupAAG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797244
chr3:165797246 T
T
 C
C
 5 a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
others(2): Show 
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 5 HG01433.hp2
HG02895.hp1
HG02897.hp2
others(2): Show 
HG01433.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG03225.hp2
 intron_variant MODIFIER c.1518-10935A>G
c.1518-10935A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797246
chr3:165797246 T
T
 TTCTTCCC
others(246): Show 
TTCTTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCC
TCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCC
TTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCC
CTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCC
TTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTTCCCTCCCTCCTTCC
TCCC
 1 a0001c0001t0003g0088
a0001c0001t0003g0088
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1518-10936_1518-10
others(259): Show 
c.1518-10936_1518-10935insGGGAGGAAGGAGGGAGGGAAGAAG
GAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAG
GGAGGAAGGAGGGAGGGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAG
GAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAG
GAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAG
GAAGGAAGGGAGGGGGGAGGGAGGGAAGA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797246
chr3:165797247 TC
TC
 T
T
 187 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(184): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0052
a0001c0001t0003g0075
a0001c0001t0003g0076
a0001c0001t0003g0089
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 231 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(228): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03927.hp1
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1518-10937delG
c.1518-10937delG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797247
chr3:165797250 T
T
 C
C
 11 a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0184
others(8): Show 
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0184
a0001c0001t0003g0088
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0002c0002t0002g0057
a0002c0002t0002g0100
 11 HG01261.hp1
HG01433.hp2
HG01496.hp1
others(8): Show 
HG01261.hp1
HG01433.hp2
HG01496.hp1
HG02280.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03225.hp2
NA18965.hp1
NA19002.hp2
 intron_variant MODIFIER c.1518-10939A>G
c.1518-10939A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797250
chr3:165797250 T
T
 TCCC
TCCC
 17 a0001c0001t0001g0185
a0001c0001t0001g0196
a0001c0001t0001g0214
others(14): Show 
a0001c0001t0001g0185
a0001c0001t0001g0196
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0221
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
 24 HG01074.hp2
HG01256.hp1
HG01258.hp2
others(21): Show 
HG01074.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp2
HG01517.hp2
HG01934.hp2
HG02015.hp1
HG02055.hp2
HG02074.hp1
HG02451.hp1
HG02602.hp2
HG02615.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp1
HG02976.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
NA18957.hp1
NA18973.hp2
NA19043.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-10940_1518-10
others(9): Show 
c.1518-10940_1518-10939insGGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797250
chr3:165797250 T
T
 TTCTTCCC
others(96): Show 
TTCTTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCC
TCCCTCCCTCCCCCCTCCCTTCCTCCCTTCCTTCCTTCTTCCCTCCCTCC
TTCC
 1 a0001c0001t0007g0135
a0001c0001t0007g0135
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1518-10940_1518-10
others(109): Show 
c.1518-10940_1518-10939insGGAAGGAGGGAGGGAAGAAGGAAG
GAAGGGAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAG
GAAGGAAGGGAGGGGGGAGGGAGGGAAGA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797250
chr3:165797250 T
T
 TTCTTCCC
others(169): Show 
TTCTTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCC
TCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCC
TTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCC
CTCCTTCCTTCTTCCCTCCCTCCTTCC
 1 a0001c0001t0007g0136
a0001c0001t0007g0136
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1518-10940_1518-10
others(182): Show 
c.1518-10940_1518-10939insGGAAGGAGGGAGGGAAGAAGGAAG
GAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAG
GAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAG
GGAGGAAGGAGGGAGGGAAGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAA
GA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797250
chr3:165797254 C
C
 T
T
 6 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(3): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
 8 HG02145.hp2
HG02258.hp1
HG02622.hp1
others(5): Show 
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02717.hp1
HG02965.hp1
HG03041.hp2
HG03486.hp2
NA20129.hp1
 intron_variant MODIFIER c.1518-10943G>A
c.1518-10943G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797254
chr3:165797254 CT
CT
 C
C
 5 a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
others(2): Show 
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 5 HG01433.hp2
HG02895.hp1
HG02897.hp2
others(2): Show 
HG01433.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG03225.hp2
 intron_variant MODIFIER c.1518-10944delA
c.1518-10944delA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797254
chr3:165797255 T
T
 C
C
 1 a0001c0001t0003g0088
a0001c0001t0003g0088
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1518-10944A>G
c.1518-10944A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797255
chr3:165797255 T
T
 TCCC
TCCC
 4 a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
others(1): Show 
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
 4 HG02451.hp1
HG02717.hp2
HG02818.hp1
others(1): Show 
HG02451.hp1
HG02717.hp2
HG02818.hp1
NA20300.hp1
 intron_variant MODIFIER c.1518-10945_1518-10
others(9): Show 
c.1518-10945_1518-10944insGGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797255
chr3:165797255 T
T
 TCCCTCCC
others(312): Show 
TCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCCCCCTCCCTCCC
TCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCC
TTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCC
CTCCTTCCTTCTTCCCTCCCTCCCCCCTCCCTCCCTCCCCCCTCCCTTCC
TTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCC
TCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTTCCCTCC
CTCCTTCCTCCCTCCCTCCC
 2 a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0054
a0002c0002t0002g0055
 2 HG02109.hp2
HG02572.hp2
HG02109.hp2
HG02572.hp2
 intron_variant MODIFIER c.1518-10945_1518-10
others(325): Show 
c.1518-10945_1518-10944insGGGAGGGAGGGAGGAAGGAGGGAG
GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGG
GGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAA
GGGAGGGGGGAGGGAGGGAGGGGGGAGGGAGGGAAGAAGGAAGGAGGGAG
GGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAG
GGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGA
GGGAGGGGGGAGGGAGGGAAGAAGGAAGGAAGGGAGGGGGGAGGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797255
chr3:165797255 T
T
 TCCCTCCC
others(246): Show 
TCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCC
TCCCCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCC
TCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCC
TTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCC
TTCCTTCCTCCCTCCCTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCC
TCCC
 1 a0001c0001t0003g0089
a0001c0001t0003g0089
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1518-10945_1518-10
others(259): Show 
c.1518-10945_1518-10944insGGGAGGGAGGGAGGAAGGAGGGAG
GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGG
GGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAGGGAGGGAGGAAG
GAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAG
GGAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAG
GGAAGAAGGAAGGAAGGGAGGGGGGAGGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797255
chr3:165797255 T
T
 TCCCTCCC
others(192): Show 
TCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCC
TCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCC
TCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCC
TTCCTCCCTCCCTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC
 6 a0001c0001t0002g0239
a0001c0001t0002g0243
a0001c0001t0002g0244
others(3): Show 
a0001c0001t0002g0239
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
 6 HG00140.hp2
HG01106.hp2
HG01358.hp2
others(3): Show 
HG00140.hp2
HG01106.hp2
HG01358.hp2
HG01361.hp2
HG02280.hp2
HG03490.hp1
 intron_variant MODIFIER c.1518-10945_1518-10
others(205): Show 
c.1518-10945_1518-10944insGGGAGGGAGGGAGGAAGGAGGGAG
GGAAGAAGGAAGGAGGGAGGGAGGAAGGAGGGAGGGAGGAAGGAAGGAAG
GAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAG
GAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAA
GAAGGAAGGAAGGGAGGGGGGAGGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797255
chr3:165797255 T
T
 TCCCTCCC
others(177): Show 
TCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCC
TCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCC
TCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCC
TTCCTTCTTCCCTCCATACTTCCTCCCTCCCTCCC
 2 a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0070
a0001c0001t0001g0071
 2 HG01346.hp1
HG02486.hp2
HG01346.hp1
HG02486.hp2
 intron_variant MODIFIER c.1518-10945_1518-10
others(190): Show 
c.1518-10945_1518-10944insGGGAGGGAGGGAGGAAGTATGGAG
GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGG
GGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAA
GGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAAGGGA
GGGGGGAGGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797255
chr3:165797255 T
T
 TCCCTCCC
others(177): Show 
TCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCC
TCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCC
TCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCC
TTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC
 12 a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0045
others(9): Show 
a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0238
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0246
a0001c0001t0010g0249
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
 15 HG01891.hp1
HG02055.hp1
HG02109.hp1
others(12): Show 
HG01891.hp1
HG02055.hp1
HG02109.hp1
HG02258.hp2
HG02723.hp1
HG02886.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG06807.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.1518-10945_1518-10
others(190): Show 
c.1518-10945_1518-10944insGGGAGGGAGGGAGGAAGGAGGGAG
GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGG
GGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAA
GGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAAGGGA
GGGGGGAGGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797255
chr3:165797255 T
T
 TCCCTCCC
others(251): Show 
TCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCC
TCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCC
TCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCC
TTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCCTCCCTTCCTTC
CTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTTCCCTCCCTCCTTCCTCC
CTCCCTCCC
 1 a0001c0001t0003g0076
a0001c0001t0003g0076
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1518-10945_1518-10
others(264): Show 
c.1518-10945_1518-10944insGGGAGGGAGGGAGGAAGGAGGGAG
GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGG
GGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAGGGAGGGAGGAA
GGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGA
GGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGA
GGGAGGGAAGAAGGAAGGAAGGGAGGGGGGAGGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797255
chr3:165797255 T
T
 TCCCTCCC
others(250): Show 
TCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCC
TCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCC
TCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCC
TTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCC
TTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTTCCCTCCCTCCTTCCTCCC
TCCCTCCC
 2 a0001c0001t0003g0052
a0001c0001t0003g0075
a0001c0001t0003g0052
a0001c0001t0003g0075
 2 HG02486.hp1
HG02723.hp2
HG02486.hp1
HG02723.hp2
 intron_variant MODIFIER c.1518-10945_1518-10
others(263): Show 
c.1518-10945_1518-10944insGGGAGGGAGGGAGGAAGGAGGGAG
GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGG
GGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAGGGAGGGAGGAAG
GAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAG
GGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAG
GGAGGGAAGAAGGAAGGAAGGGAGGGGGGAGGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797255
chr3:165797255 T
T
 TCCCTCCC
others(358): Show 
TCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCC
TCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCCCCCTCCCTCCCTCCC
CCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCC
TCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCC
TTCCTTCTTCCCTCCCTCCCCCCTCCCTCCCTCCCCCCTCCCTTCCTTCC
TTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCC
TTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTTCCCTCCCTCC
TTCCTCCCTCCCTCCC
 3 a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0118
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0118
 6 HG02615.hp1
HG02647.hp1
HG02922.hp2
others(3): Show 
HG02615.hp1
HG02647.hp1
HG02922.hp2
HG03098.hp1
HG03516.hp2
NA18522.hp1
 intron_variant MODIFIER c.1518-10945_1518-10
others(371): Show 
c.1518-10945_1518-10944insGGGAGGGAGGGAGGAAGGAGGGAG
GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGG
GGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAA
GGGAGGGGGGAGGGAGGGAGGGGGGAGGGAGGGAAGAAGGAAGGAGGGAG
GGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAG
GGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGA
GGGAGGGGGGAGGGAGGGAAGAAGGAAGGAAGGGAGGGGGGAGGGAGGGA
GGAAGGAGGGAGGGAAGAAGGAAGGAAGGGAGGGGGGAGGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797255
chr3:165797255 T
T
 TCCCTCCC
others(133): Show 
TCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCC
TCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTCCTTCCTTCCTCCCT
CCCTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC
 1 a0001c0001t0001g0113
a0001c0001t0001g0113
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.1518-10945_1518-10
others(146): Show 
c.1518-10945_1518-10944insGGGAGGGAGGGAGGAAGGAGGGAG
GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGGGAGGGGG
GAGGGAGGGAGGAAGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGG
AAGGGAGGGGGGAGGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797255
chr3:165797257 CT
CT
 C
C
 10 a0001c0001t0001g0185
a0001c0001t0001g0196
a0002c0002t0004g0002
others(7): Show 
a0001c0001t0001g0185
a0001c0001t0001g0196
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
 17 HG01074.hp2
HG01256.hp1
HG01258.hp2
others(14): Show 
HG01074.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp2
HG01517.hp2
HG01934.hp2
HG02055.hp2
HG02602.hp2
HG02615.hp2
HG02738.hp1
HG02976.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
NA18957.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-10947delA
c.1518-10947delA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797257
chr3:165797258 T
T
 C
C
 209 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(206): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0052
a0001c0001t0003g0075
a0001c0001t0003g0076
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 253 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(250): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03927.hp1
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1518-10947A>G
c.1518-10947A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797258
chr3:165797258 T
T
 TTCGTTCT
others(321): Show 
TTCGTTCTTCCCTCCCTTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCTT
CCTTCCTTCCTTCTTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCT
CCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCT
CCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCT
TCCTTCCTCCCTCCCTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCT
CCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTT
CCCTCCCTCCTTCCTCCCTCCCTCCCCCC
 6 a0001c0001t0003g0016
a0001c0001t0003g0053
a0001c0001t0003g0074
others(3): Show 
a0001c0001t0003g0016
a0001c0001t0003g0053
a0001c0001t0003g0074
a0001c0001t0003g0077
a0001c0001t0003g0092
a0001c0001t0003g0093
 7 HG01243.hp1
HG01261.hp2
HG01515.hp2
others(4): Show 
HG01243.hp1
HG01261.hp2
HG01515.hp2
HG01517.hp1
HG03471.hp2
HG04184.hp1
NA20129.hp2
 intron_variant MODIFIER c.1518-10948_1518-10
others(334): Show 
c.1518-10948_1518-10947insGGGGGGAGGGAGGGAGGAAGGAGG
GAGGGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAG
GGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAGGGAGGGAGG
AAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGG
GAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAG
GAGGGAGGGAAGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAAGAAGGAAG
GAAGGAAGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAAGGGAGGGAAGA
ACGA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797258
chr3:165797258 T
T
 TTCGTTCT
others(321): Show 
TTCGTTCTTCCCTCCCTTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCTT
CCTTCCTTCCTTCTTCCCTCCCTCCCCCCTCCCTTCCTTCTTTCTTCCCT
CCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCT
CCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCT
TCCTTCCTCCCTCCCTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCT
CCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTT
CCCTCCCTCCTTCCTCCCTCCCTCCCCCC
 14 a0001c0001t0003g0042
a0001c0001t0003g0072
a0001c0001t0003g0078
others(11): Show 
a0001c0001t0003g0042
a0001c0001t0003g0072
a0001c0001t0003g0078
a0001c0001t0003g0079
a0001c0001t0003g0080
a0001c0001t0003g0081
a0001c0001t0003g0082
a0001c0001t0003g0083
a0001c0001t0003g0084
a0001c0001t0003g0085
a0001c0001t0003g0086
a0001c0001t0003g0087
a0001c0001t0003g0090
a0001c0001t0003g0091
 14 HG00423.hp1
HG01069.hp1
HG03486.hp1
others(11): Show 
HG00423.hp1
HG01069.hp1
HG03486.hp1
NA18939.hp2
NA18950.hp1
NA18960.hp2
NA18983.hp1
NA18984.hp2
NA18988.hp1
NA18993.hp2
NA19058.hp1
NA19077.hp1
NA19080.hp1
NA20905.hp2
 intron_variant MODIFIER c.1518-10948_1518-10
others(334): Show 
c.1518-10948_1518-10947insGGGGGGAGGGAGGGAGGAAGGAGG
GAGGGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAG
GGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAGGGAGGGAGG
AAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGG
GAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAG
GAGGGAGGGAAGAAAGAAGGAAGGGAGGGGGGAGGGAGGGAAGAAGGAAG
GAAGGAAGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAAGGGAGGGAAGA
ACGA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797258
chr3:165797258 T
T
 TTCGTTCT
others(395): Show 
TTCGTTCTTCCCTCCCTTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCTT
CCTTCCTTCCTTCTTCCCTCCCTCCCCCCTCCCTTCCTTCTTTCTTCCCT
CCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCT
CCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCT
TCCTTCCTCCCTCCCTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCT
CCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTT
CCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCT
TCCTCCCTCCCTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCC
CCC
 1 a0001c0001t0003g0043
a0001c0001t0003g0043
 1 NA19062.hp2
NA19062.hp2
 intron_variant MODIFIER c.1518-10948_1518-10
others(408): Show 
c.1518-10948_1518-10947insGGGGGGGAGGGAGGGAGGAAGGAG
GGAGGGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGA
GGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAGGGAGGGAG
GAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAG
GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGG
GGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAA
GGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAAGAAGGAAGGGA
GGGGGGAGGGAGGGAAGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAAGGA
GGGAAGGAAGGAAGGGAGGGAAGAACGA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797258
chr3:165797259 T
T
 C
C
 18 a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0184
others(15): Show 
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0196
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0221
a0002c0002t0002g0057
a0002c0002t0002g0100
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
 25 HG01074.hp2
HG01256.hp1
HG01258.hp2
others(22): Show 
HG01074.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01496.hp1
HG01496.hp2
HG01517.hp2
HG01934.hp2
HG02015.hp1
HG02055.hp2
HG02074.hp1
HG02602.hp2
HG02615.hp2
HG02738.hp1
HG02896.hp2
HG02976.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
NA18957.hp1
NA18965.hp1
NA18973.hp2
NA19002.hp2
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-10948A>G
c.1518-10948A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797259
chr3:165797259 T
T
 TCCC
TCCC
 88 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(85): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0051
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0005t0001g0142
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0105
a0002c0002t0002g0107
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0005c0007t0001g0186
a0006c0006t0002g0094
 110 HG00099.hp1
HG00544.hp1
HG00544.hp2
others(107): Show 
HG00099.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01106.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG03239.hp1
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp2
NA19043.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1518-10951_1518-10
others(9): Show 
c.1518-10951_1518-10949dupGGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797259
chr3:165797259 T
T
 TCCCCCCC
others(170): Show 
TCCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCC
CCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCC
CTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTC
TTCCCTCCCTCCTTCCTCCCTCCCTCCC
 1 a0002c0002t0002g0095
a0002c0002t0002g0095
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.1518-10949_1518-10
others(183): Show 
c.1518-10949_1518-10948insGGGAGGGAGGGAGGAAGGAGGGAG
GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGG
GGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGGA
GGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAAGGGAGGGG
GGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797259
chr3:165797259 T
T
 TCCCCCCC
others(174): Show 
TCCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCC
CCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCC
CTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTC
CTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC
 1 a0001c0001t0001g0213
a0001c0001t0001g0213
 1 NA19077.hp2
NA19077.hp2
 intron_variant MODIFIER c.1518-10949_1518-10
others(187): Show 
c.1518-10949_1518-10948insGGGAGGGAGGGAGGAAGGAGGGAG
GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGG
GGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAA
GGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAAGGGA
GGGGGGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797259
chr3:165797259 T
T
 TCCCCCCT
others(174): Show 
TCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC
CCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCC
CTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTC
CTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC
 1 a0001c0001t0001g0201
a0001c0001t0001g0201
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.1518-10949_1518-10
others(187): Show 
c.1518-10949_1518-10948insGGGAGGGAGGGAGGAAGGAGGGAG
GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGG
GGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAA
GGGAGGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAAGGG
AGGGGGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797259
chr3:165797259 T
T
 TCCCCCCT
others(169): Show 
TCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC
CCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCC
TCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCT
TCCCTCCCTCCTTCCTCCCTCCCTCCC
 28 a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0127
others(25): Show 
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0127
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0137
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0056
a0002c0002t0002g0060
a0002c0002t0002g0063
a0002c0002t0002g0066
a0002c0002t0002g0099
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0106
a0002c0002t0002g0108
a0002c0002t0009g0103
a0007c0008t0003g0041
 33 HG00609.hp2
HG00621.hp2
HG01074.hp1
others(30): Show 
HG00609.hp2
HG00621.hp2
HG01074.hp1
HG01167.hp1
HG01243.hp2
HG02040.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02970.hp1
HG02970.hp2
HG03195.hp2
HG03209.hp1
HG03239.hp2
NA18522.hp2
NA18906.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp2
NA18955.hp2
NA18956.hp1
NA18961.hp2
NA18962.hp1
NA18985.hp1
NA18994.hp2
NA19058.hp2
NA19065.hp2
NA19085.hp1
 intron_variant MODIFIER c.1518-10949_1518-10
others(182): Show 
c.1518-10949_1518-10948insGGGAGGGAGGGAGGAAGGAGGGAG
GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGG
GGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGGA
GGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAAGGGAGGGG
GG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797259
chr3:165797259 T
T
 TCCCCCCT
others(333): Show 
TCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC
CCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCC
TCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCT
TCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCC
TCCCTCCTTCCTCCCTCCCTCCCCCCCTTCCTTCCTTCCTTCCTTCCTCC
CTCCCTCTCTCCAGTCTCTCCTTTCTTCCTTCCTTCCTTCCTTCCTCCCT
CCCTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC
 1 a0002c0002t0002g0061
a0002c0002t0002g0061
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.1518-10949_1518-10
others(346): Show 
c.1518-10949_1518-10948insGGGAGGGAGGGAGGAAGGAGGGAG
GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGAAAGGAG
AGACTGGAGAGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGGGGGAGG
GAGGGAGGAAGGAGGGAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGG
GAGGAAGGAGGGAGGGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGG
AAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGG
AAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGG
AAGGAAGGGAGGGGGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797259
chr3:165797259 T
T
 TCCCCCCT
others(173): Show 
TCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC
CCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCC
TCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCC
TTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC
 38 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(35): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
 48 HG00099.hp2
HG00423.hp2
HG00621.hp1
others(45): Show 
HG00099.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01934.hp1
HG01943.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp1
HG02896.hp1
HG02897.hp1
HG03098.hp2
HG03130.hp2
HG03471.hp1
HG03669.hp1
HG03704.hp1
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19012.hp1
NA19064.hp1
NA19070.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.1518-10949_1518-10
others(186): Show 
c.1518-10949_1518-10948insGGGAGGGAGGGAGGAAGGAGGGAG
GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGG
GGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAA
GGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAAGGGA
GGGGGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797259
chr3:165797259 T
T
 TCCCCCCT
others(188): Show 
TCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC
CCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCT
CCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCC
CCCTCCCTTCCTTCCTTCCTTCCTTCCTCCTTCCTCCCTCCCTCCC
 1 a0001c0001t0001g0133
a0001c0001t0001g0133
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.1518-10949_1518-10
others(201): Show 
c.1518-10949_1518-10948insGGGAGGGAGGGAGGAAGGAGGAAG
GAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAG
GGAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAG
GGAAGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAA
GAAGGAAGGAAGGGAGGGGGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797259
chr3:165797259 T
T
 TCCCCCCT
others(374): Show 
TCCCCCCTCCCTTCCTTCTTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC
CCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCC
TCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCC
TTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCC
TTCCTTCCTTCCTTCCTTCCTTCTTCCCTCCCTCCCCCCTCCCTTCCTTC
CTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTC
TTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTC
CTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCC
 2 a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0146
a0001c0001t0001g0147
 2 NA18975.hp2
NA18999.hp1
NA18975.hp2
NA18999.hp1
 intron_variant MODIFIER c.1518-10949_1518-10
others(387): Show 
c.1518-10949_1518-10948insGGGAGGGAGGGAGGAAGGAGGGAG
GGAGGGAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAG
GGAGGGAAGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAG
GGAAGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAAGAAGGAAGGAAGGAA
GGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGA
GGGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGG
GGGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGA
AGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAAGAAGGAAGGG
AGGGGGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797259
chr3:165797259 T
T
 TCGTTCTT
others(213): Show 
TCGTTCTTCCCTCCCTTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCTTC
CTTCCTTCCTTCTTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTC
CCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTC
CTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTC
CCTCCTTCCTCCCTCCCTCCC
 1 a0001c0001t0001g0171
a0001c0001t0001g0171
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.1518-10949_1518-10
others(226): Show 
c.1518-10949_1518-10948insGGGAGGGAGGGAGGAAGGAGGGAG
GGAGGGAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAG
GGAGGGAAGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAG
GGAAGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAAGAAGGAAGGAAGGAA
GGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAAGGGAGGGAAGAACG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797259
chr3:165797260 C
C
 CCT
CCT
 5 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(2): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0050
 7 HG02145.hp2
HG02258.hp1
HG02622.hp1
others(4): Show 
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02965.hp1
HG03041.hp2
HG03486.hp2
NA20129.hp1
 intron_variant MODIFIER c.1518-10950_1518-10
others(8): Show 
c.1518-10950_1518-10949insAG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797260
chr3:165797260 C
C
 CGTTCTTC
others(267): Show 
CGTTCTTCCCTCCCTTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCTTCC
TTCCTTCCTTCTTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCC
CTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCC
CTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTC
CTCCCTCCCTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCC
TCCCTTCCTTCCTTCCTTCCTTCCT
 1 a0001c0001t0003g0031
a0001c0001t0003g0031
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.1518-10950_1518-10
others(280): Show 
c.1518-10950_1518-10949insAGGAAGGAAGGAAGGAAGGAAGGG
AGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAGGGAGGGA
GGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGA
GGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGA
GGGAGGGAAGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAAGAAGGAAGGA
AGGAAGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAAGGGAGGGAAGAAC
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797260
chr3:165797263 T
T
 C
C
 8 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(5): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0003g0031
a0004c0004t0004g0032
 11 HG01255.hp1
HG02145.hp2
HG02258.hp1
others(8): Show 
HG01255.hp1
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02717.hp1
HG02735.hp1
HG02965.hp1
HG03041.hp2
HG03486.hp2
HG03540.hp1
NA20129.hp1
 intron_variant MODIFIER c.1518-10952A>G
c.1518-10952A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797263
chr3:165797264 T
T
 C
C
 180 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(177): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 225 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(222): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-10953A>G
c.1518-10953A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797264
chr3:165797267 T
T
 C
C
 7 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(4): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0003g0031
 10 HG01255.hp1
HG02145.hp2
HG02258.hp1
others(7): Show 
HG01255.hp1
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02717.hp1
HG02965.hp1
HG03041.hp2
HG03486.hp2
HG03540.hp1
NA20129.hp1
 intron_variant MODIFIER c.1518-10956A>G
c.1518-10956A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797267
chr3:165797268 T
T
 TCCTTCTT
others(162): Show 
TCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCT
TCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCT
TCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTTCCCTCCCTCCT
TCCTCCCTCCCTCCCCCCTC
 3 a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
 3 HG01433.hp2
HG02922.hp1
HG03225.hp2
HG01433.hp2
HG02922.hp1
HG03225.hp2
 intron_variant MODIFIER c.1518-10958_1518-10
others(175): Show 
c.1518-10958_1518-10957insGAGGGGGGAGGGAGGGAGGAAGGA
GGGAGGGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGG
AGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGA
AGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797268
chr3:165797268 T
T
 TCCTTCTT
others(166): Show 
TCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCT
TCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCT
TCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTTCCCTCCC
TCCTTCCTCCCTCCCTCCCCCCTC
 2 a0001c0001t0006g0224
a0001c0001t0006g0228
a0001c0001t0006g0224
a0001c0001t0006g0228
 2 HG02895.hp1
HG02897.hp2
HG02895.hp1
HG02897.hp2
 intron_variant MODIFIER c.1518-10958_1518-10
others(179): Show 
c.1518-10958_1518-10957insGAGGGGGGAGGGAGGGAGGAAGGA
GGGAGGGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGA
AGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGA
AGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797268
chr3:165797278 C
C
 T
T
 99 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(96): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0003g0031
a0001c0005t0001g0142
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0057
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0100
a0002c0002t0002g0105
a0002c0002t0002g0107
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0005c0007t0001g0186
a0006c0006t0002g0094
 124 HG00099.hp1
HG00544.hp1
HG00544.hp2
others(121): Show 
HG00099.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp2
HG01106.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1518-10967G>A
c.1518-10967G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797278
chr3:165797280 T
T
 C
C
 99 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(96): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0003g0031
a0001c0005t0001g0142
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0057
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0100
a0002c0002t0002g0105
a0002c0002t0002g0107
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0005c0007t0001g0186
a0006c0006t0002g0094
 124 HG00099.hp1
HG00544.hp1
HG00544.hp2
others(121): Show 
HG00099.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp2
HG01106.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1518-10969A>G
c.1518-10969A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797280
chr3:165797284 C
C
 T
T
 3 a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0171
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0171
 3 HG03704.hp2
NA18975.hp2
NA18999.hp1
HG03704.hp2
NA18975.hp2
NA18999.hp1
 intron_variant MODIFIER c.1518-10973G>A
c.1518-10973G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797284
chr3:165797302 TC
TC
 T
T
 6 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(3): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
 8 HG02145.hp2
HG02258.hp1
HG02622.hp1
others(5): Show 
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02717.hp1
HG02965.hp1
HG03041.hp2
HG03486.hp2
NA20129.hp1
 intron_variant MODIFIER c.1518-10992delG
c.1518-10992delG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797302
chr3:165797303 C
C
 CCCCCCTC
others(65): Show 
CCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTT
CCCTCCCTCCTTCCTCCCTCCCT
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.1518-10993_1518-10
others(78): Show 
c.1518-10993_1518-10992insAGGGAGGGAGGAAGGAGGGAGGGA
AGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797303
chr3:165797306 C
C
 CCCT
CCCT
 89 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(86): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0236
a0001c0005t0001g0142
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0057
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0100
a0002c0002t0002g0105
a0002c0002t0002g0107
a0002c0002t0002g0109
a0002c0002t0002g0165
a0005c0007t0001g0186
a0006c0006t0002g0094
 111 HG00099.hp1
HG00544.hp2
HG00609.hp1
others(108): Show 
HG00099.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp2
HG01106.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG03239.hp1
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1518-10996_1518-10
others(9): Show 
c.1518-10996_1518-10995insAGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797306
chr3:165797306 CCCCTT
CCCCTT
 C
C
 22 a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0127
others(19): Show 
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0127
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0171
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0056
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0063
a0002c0002t0002g0066
a0002c0002t0002g0095
a0002c0002t0002g0099
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0106
a0002c0002t0002g0108
a0002c0002t0009g0103
 25 HG00609.hp2
HG00621.hp2
HG01074.hp1
others(22): Show 
HG00609.hp2
HG00621.hp2
HG01074.hp1
HG01167.hp1
HG01243.hp2
HG02040.hp1
HG02602.hp1
HG03239.hp2
HG03704.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp2
NA18955.hp2
NA18956.hp1
NA18961.hp2
NA18962.hp1
NA18975.hp2
NA18985.hp1
NA18994.hp2
NA18999.hp1
NA19058.hp2
NA19065.hp2
NA19081.hp2
NA19085.hp1
 intron_variant MODIFIER c.1518-11000_1518-10
others(11): Show 
c.1518-11000_1518-10996delAAGGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797306
chr3:165797307 C
C
 CCTCCCTT
others(4): Show 
CCTCCCTTCCTT
 1 a0001c0001t0003g0031
a0001c0001t0003g0031
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.1518-10997_1518-10
others(17): Show 
c.1518-10997_1518-10996insAAGGAAGGGAG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797307
chr3:165797307 CCCTT
CCCTT
 C
C
 21 a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
others(18): Show 
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0237
a0007c0008t0003g0041
 24 HG01433.hp2
HG02055.hp2
HG02559.hp2
others(21): Show 
HG01433.hp2
HG02055.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02622.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
NA18522.hp2
NA18906.hp1
NA19043.hp1
NA19043.hp2
NA21309.hp2
 intron_variant MODIFIER c.1518-11000_1518-10
others(10): Show 
c.1518-11000_1518-10997delAAGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797307
chr3:165797310 T
T
 TCCCTTCC
others(135): Show 
TCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCC
TTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCC
TCCCTTCCTTCCTTCCTTCCTCCCTCCTTCCTCCCTCCCTCCC
 1 a0002c0002t0002g0110
a0002c0002t0002g0110
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.1518-11000_1518-10
others(148): Show 
c.1518-11000_1518-10999insGGGAGGGAGGGAGGAAGGAGGGAG
GAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAG
GGAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAG
GGAAGAAGGAAGGAAGGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797310
chr3:165797310 T
T
 TCCCTTCC
others(135): Show 
TCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCC
TTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCC
TCCCTTCCTTCCTTCCTTCCTTCCTCCTTCCTCCCTCCCTCCC
 1 a0001c0001t0001g0235
a0001c0001t0001g0235
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.1518-11000_1518-10
others(148): Show 
c.1518-11000_1518-10999insGGGAGGGAGGGAGGAAGGAGGAAG
GAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAG
GGAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAG
GGAAGAAGGAAGGAAGGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797310
chr3:165797311 T
T
 C
C
 2 a0001c0001t0001g0235
a0002c0002t0002g0110
a0001c0001t0001g0235
a0002c0002t0002g0110
 2 HG00544.hp1
HG01255.hp2
HG00544.hp1
HG01255.hp2
 intron_variant MODIFIER c.1518-11000A>G
c.1518-11000A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797311
chr3:165797311 T
T
 TCCTTCCT
others(159): Show 
TCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCC
TCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTTCCCTCC
CTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTCCCTCC
TTCCTCCCTCCCTCCCC
 1 a0002c0002t0002g0068
a0002c0002t0002g0068
 1 NA19060.hp2
NA19060.hp2
 intron_variant MODIFIER c.1518-11001_1518-11
others(172): Show 
c.1518-11001_1518-11000insGGGGAGGGAGGGAGGAAGGAGGGA
GGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGA
AGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGG
AGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797311
chr3:165797311 T
T
 TCCTTCCT
others(158): Show 
TCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCT
CCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTTCCCTCCC
TCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCT
TCCTCCCTCCCTCCCC
 16 a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0057
others(13): Show 
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0057
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0067
a0002c0002t0002g0069
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0100
a0002c0002t0002g0105
a0002c0002t0002g0107
a0002c0002t0002g0109
a0006c0006t0002g0094
 16 HG01978.hp2
HG02056.hp2
HG02165.hp1
others(13): Show 
HG01978.hp2
HG02056.hp2
HG02165.hp1
HG02683.hp2
HG03927.hp1
NA18941.hp2
NA18965.hp1
NA18968.hp1
NA18975.hp1
NA18978.hp1
NA18982.hp1
NA18988.hp2
NA18998.hp1
NA19002.hp2
NA19064.hp2
NA19068.hp2
 intron_variant MODIFIER c.1518-11001_1518-11
others(171): Show 
c.1518-11001_1518-11000insGGGGAGGGAGGGAGGAAGGAGGGA
GGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGA
AGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGA
GGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797311
chr3:165797311 T
T
 TCCTTCCT
others(85): Show 
TCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCT
CCCTTCCTTCCTTCCTTCCTTCCTCCTTCCTCCCTCCCTCCCC
 2 a0001c0001t0001g0153
a0001c0001t0001g0185
a0001c0001t0001g0153
a0001c0001t0001g0185
 2 HG01074.hp2
HG03239.hp1
HG01074.hp2
HG03239.hp1
 intron_variant MODIFIER c.1518-11001_1518-11
others(98): Show 
c.1518-11001_1518-11000insGGGGAGGGAGGGAGGAAGGAGGAA
GGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGA
GGGAGGAAGGAAGGAAGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797311
chr3:165797311 T
T
 TCCTTCCT
others(132): Show 
TCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCCTCCCTTCC
TTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCC
TTCCTTCCTTCCTTCCTTCCTCCTTCCTCCCTCCCTCCCC
 1 a0001c0001t0001g0177
a0001c0001t0001g0177
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.1518-11001_1518-11
others(145): Show 
c.1518-11001_1518-11000insGGGGAGGGAGGGAGGAAGGAGGAA
GGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGA
GGGAGGAAGGAAGGAAGGAAGGGAGGGGGGGAGGGAGGGAGGAAGGAGGG
AGGGAAGAAGGAAGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797311
chr3:165797311 T
T
 TCCTTCCT
others(132): Show 
TCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCT
TCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCCTCCC
TTCCTTCCTTCCTTCCTTCCTCCTTCCTCCCTCCCTCCCC
 3 a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0184
a0001c0001t0001g0156
a0001c0001t0001g0158
a0001c0001t0001g0184
 3 HG01175.hp2
HG02056.hp1
HG02896.hp2
HG01175.hp2
HG02056.hp1
HG02896.hp2
 intron_variant MODIFIER c.1518-11001_1518-11
others(145): Show 
c.1518-11001_1518-11000insGGGGAGGGAGGGAGGAAGGAGGAA
GGAAGGAAGGAAGGAAGGGAGGGGGGGAGGGAGGGAGGAAGGAGGGAGGG
AGGGAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGG
AGGGAAGAAGGAAGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797311
chr3:165797311 T
T
 TCCTTCCT
others(185): Show 
TCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCT
TCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCT
TCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCT
CCCTTCCTTCCTTCCTTCCTTCCTCCTTCCTCCCTCCCTCCCC
 4 a0001c0001t0001g0036
a0001c0001t0001g0169
a0001c0001t0001g0191
others(1): Show 
a0001c0001t0001g0036
a0001c0001t0001g0169
a0001c0001t0001g0191
a0001c0001t0001g0192
 4 HG01192.hp1
HG01256.hp2
HG03669.hp2
others(1): Show 
HG01192.hp1
HG01256.hp2
HG03669.hp2
NA20300.hp2
 intron_variant MODIFIER c.1518-11001_1518-11
others(198): Show 
c.1518-11001_1518-11000insGGGGAGGGAGGGAGGAAGGAGGAA
GGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGA
GGGAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGA
GGGAGGGAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGA
GGGAGGGAAGAAGGAAGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797311
chr3:165797311 T
T
 TCCTTCCT
others(127): Show 
TCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCT
TCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCT
TCCTTCCTTCCTTCCTCCTTCCTCCCTCCCTCCCC
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 2 NA18973.hp1
NA18993.hp1
NA18973.hp1
NA18993.hp1
 intron_variant MODIFIER c.1518-11001_1518-11
others(140): Show 
c.1518-11001_1518-11000insGGGGAGGGAGGGAGGAAGGAGGAA
GGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAGGGA
GGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGA
AGAAGGAAGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797311
chr3:165797311 T
T
 TCCTTCCT
others(131): Show 
TCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCT
TCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCT
TCCTTCCTTCCTTCCTTCCTCCTTCCTCCCTCCCTCCCC
 56 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(53): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0037
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0157
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0193
a0001c0001t0001g0236
a0001c0005t0001g0142
a0002c0002t0002g0165
a0005c0007t0001g0186
 77 HG00099.hp1
HG00544.hp2
HG00609.hp1
others(74): Show 
HG00099.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01169.hp1
HG01257.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG02015.hp2
HG02040.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG03490.hp2
HG03654.hp1
HG04184.hp2
HG06807.hp1
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18968.hp2
NA18971.hp1
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp2
NA18991.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp2
NA19060.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1518-11001_1518-11
others(144): Show 
c.1518-11001_1518-11000insGGGGAGGGAGGGAGGAAGGAGGAA
GGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGA
GGGAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGA
GGGAAGAAGGAAGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797311
chr3:165797315 T
T
 TCCTTCTT
others(127): Show 
TCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCT
TCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCT
TCCTTCCTTCCTTCCTCCTTCCTCCCTCCCTCCCC
 5 a0001c0001t0001g0125
a0001c0001t0001g0128
a0001c0001t0001g0129
others(2): Show 
a0001c0001t0001g0125
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0131
a0001c0001t0001g0132
 5 HG00642.hp2
HG01106.hp1
HG01515.hp1
others(2): Show 
HG00642.hp2
HG01106.hp1
HG01515.hp1
HG02683.hp1
NA18980.hp1
 intron_variant MODIFIER c.1518-11005_1518-11
others(140): Show 
c.1518-11005_1518-11004insGGGGAGGGAGGGAGGAAGGAGGAA
GGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGA
GGGAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGA
GGGAAGAAGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797315
chr3:165797331 C
C
 CCCTCCCT
others(37): Show 
CCCTCCCTCCCTCCAGTCTCTCCTTTCTTCCTTCCTTCCTTCCTT
 1 a0001c0001t0001g0113
a0001c0001t0001g0113
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.1518-11064_1518-11
others(50): Show 
c.1518-11064_1518-11021dupAAGGAAGGAAGGAAGGAAGAAAGG
AGAGACTGGAGGGAGGGAGG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797331
chr3:165797340 C
C
 T
T
 49 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(46): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 59 HG00099.hp2
HG00423.hp2
HG00621.hp1
others(56): Show 
HG00099.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01934.hp1
HG01943.hp2
HG02015.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03669.hp1
HG03704.hp1
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18957.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19012.hp1
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.1518-11029G>A
c.1518-11029G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797340
chr3:165797592 T
T
 G
G
 1 a0001c0001t0001g0150
a0001c0001t0001g0150
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.1518-11281A>C
c.1518-11281A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797592
chr3:165797743 T
T
 C
C
 2 a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0167
a0001c0001t0001g0168
 2 NA18971.hp1
NA19068.hp1
NA18971.hp1
NA19068.hp1
 intron_variant MODIFIER c.1518-11432A>G
c.1518-11432A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797743
chr3:165797835 A
A
 C
C
 1 a0001c0001t0001g0159
a0001c0001t0001g0159
 1 HG03490.hp2
HG03490.hp2
 intron_variant MODIFIER c.1518-11524T>G
c.1518-11524T>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797835
chr3:165797933 G
G
 T
T
 9 a0001c0001t0001g0113
a0001c0001t0002g0005
a0001c0001t0002g0019
others(6): Show 
a0001c0001t0001g0113
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
 12 HG02451.hp1
HG02615.hp1
HG02647.hp1
others(9): Show 
HG02451.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG03098.hp1
HG03516.hp2
NA18522.hp1
NA19030.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.1518-11622C>A
c.1518-11622C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797933
chr3:165797972 G
G
 A
A
 200 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(197): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 250 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(247): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-11661C>T
c.1518-11661C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165797972
chr3:165798061 C
C
 T
T
 2 a0001c0001t0002g0019
a0001c0001t0002g0118
a0001c0001t0002g0019
a0001c0001t0002g0118
 3 HG02615.hp1
HG02647.hp1
HG03098.hp1
HG02615.hp1
HG02647.hp1
HG03098.hp1
 intron_variant MODIFIER c.1518-11750G>A
c.1518-11750G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165798061
chr3:165798762 A
A
 G
G
 130 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(127): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 159 HG00099.hp1
HG00140.hp1
HG00544.hp1
others(156): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1518-12451T>C
c.1518-12451T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165798762
chr3:165798826 CA
CA
 C
C
 200 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(197): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 250 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(247): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-12516delT
c.1518-12516delT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165798826
chr3:165798885 A
A
 C
C
 1 a0001c0001t0003g0031
a0001c0001t0003g0031
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.1518-12574T>G
c.1518-12574T>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165798885
chr3:165799267 T
T
 G
G
 2 a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0122
a0001c0001t0001g0123
 2 HG00609.hp1
HG02155.hp1
HG00609.hp1
HG02155.hp1
 intron_variant MODIFIER c.1518-12956A>C
c.1518-12956A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165799267
chr3:165799403 C
C
 G
G
 3 a0001c0001t0001g0010
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0010
a0001c0001t0001g0233
a0001c0001t0001g0234
 5 HG01167.hp2
HG01169.hp2
HG03130.hp2
others(2): Show 
HG01167.hp2
HG01169.hp2
HG03130.hp2
NA18906.hp2
NA19240.hp1
 intron_variant MODIFIER c.1518-13092G>C
c.1518-13092G>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165799403
chr3:165799425 G
G
 A
A
 1 a0001c0001t0001g0218
a0001c0001t0001g0218
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.1518-13114C>T
c.1518-13114C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165799425
chr3:165799802 C
C
 A
A
 49 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(46): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 59 HG00099.hp2
HG00423.hp2
HG00621.hp1
others(56): Show 
HG00099.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01934.hp1
HG01943.hp2
HG02015.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03669.hp1
HG03704.hp1
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18957.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19012.hp1
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.1518-13491G>T
c.1518-13491G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165799802
chr3:165799944 A
A
 G
G
 5 a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
others(2): Show 
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0138
a0007c0008t0003g0041
 5 HG02572.hp1
HG02809.hp2
HG02886.hp2
others(2): Show 
HG02572.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
NA18906.hp1
 intron_variant MODIFIER c.1518-13633T>C
c.1518-13633T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165799944
chr3:165800021 C
C
 CTTTAT
CTTTAT
 221 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(218): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0006
a0001c0001t0003g0031
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 275 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(272): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-13715_1518-13
others(11): Show 
c.1518-13715_1518-13711dupATAAA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165800021
chr3:165800028 A
A
 G
G
 4 a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
others(1): Show 
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
 4 HG02451.hp1
HG02717.hp2
HG02818.hp1
others(1): Show 
HG02451.hp1
HG02717.hp2
HG02818.hp1
NA20300.hp1
 intron_variant MODIFIER c.1518-13717T>C
c.1518-13717T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165800028
chr3:165800115 A
A
 G
G
 1 a0001c0001t0001g0200
a0001c0001t0001g0200
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.1518-13804T>C
c.1518-13804T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165800115
chr3:165800138 A
A
 G
G
 3 a0001c0001t0001g0157
a0001c0001t0001g0158
a0005c0007t0001g0186
a0001c0001t0001g0157
a0001c0001t0001g0158
a0005c0007t0001g0186
 3 HG00673.hp1
HG02056.hp1
NA18968.hp2
HG00673.hp1
HG02056.hp1
NA18968.hp2
 intron_variant MODIFIER c.1518-13827T>C
c.1518-13827T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165800138
chr3:165800472 C
C
 T
T
 1 a0001c0001t0001g0151
a0001c0001t0001g0151
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.1518-14161G>A
c.1518-14161G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165800472
chr3:165800524 T
T
 C
C
 1 a0001c0001t0001g0150
a0001c0001t0001g0150
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.1518-14213A>G
c.1518-14213A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165800524
chr3:165800591 C
C
 T
T
 1 a0001c0001t0003g0134
a0001c0001t0003g0134
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.1518-14280G>A
c.1518-14280G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165800591
chr3:165800638 T
T
 G
G
 1 a0001c0001t0001g0143
a0001c0001t0001g0143
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.1518-14327A>C
c.1518-14327A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165800638
chr3:165800651 A
A
 G
G
 1 a0002c0002t0002g0065
a0002c0002t0002g0065
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.1518-14340T>C
c.1518-14340T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165800651
chr3:165800908 A
A
 C
C
 1 a0001c0001t0007g0135
a0001c0001t0007g0135
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1518-14597T>G
c.1518-14597T>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165800908
chr3:165801506 T
T
 C
C
 139 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(136): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 171 HG00099.hp1
HG00140.hp1
HG00544.hp1
others(168): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03098.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03516.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1518-15195A>G
c.1518-15195A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165801506
chr3:165801539 A
A
 G
G
 1 a0002c0002t0002g0064
a0002c0002t0002g0064
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.1518-15228T>C
c.1518-15228T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165801539
chr3:165801575 G
G
 A
A
 1 a0002c0002t0002g0069
a0002c0002t0002g0069
 1 NA18941.hp2
NA18941.hp2
 intron_variant MODIFIER c.1518-15264C>T
c.1518-15264C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165801575
chr3:165802106 G
G
 A
A
 1 a0001c0001t0001g0216
a0001c0001t0001g0216
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.1518-15795C>T
c.1518-15795C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165802106
chr3:165802194 T
T
 C
C
 1 a0001c0001t0001g0123
a0001c0001t0001g0123
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.1518-15883A>G
c.1518-15883A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165802194
chr3:165802458 G
G
 A
A
 1 a0001c0001t0006g0226
a0001c0001t0006g0226
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.1518-16147C>T
c.1518-16147C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165802458
chr3:165802570 C
C
 G
G
 5 a0001c0001t0003g0052
a0001c0001t0003g0075
a0001c0001t0003g0076
others(2): Show 
a0001c0001t0003g0052
a0001c0001t0003g0075
a0001c0001t0003g0076
a0001c0001t0003g0088
a0001c0001t0003g0089
 5 HG02280.hp1
HG02486.hp1
HG02723.hp2
others(2): Show 
HG02280.hp1
HG02486.hp1
HG02723.hp2
HG03225.hp1
HG03516.hp1
 intron_variant MODIFIER c.1518-16259G>C
c.1518-16259G>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165802570
chr3:165802628 G
G
 GT
GT
 19 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(16): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0113
a0001c0001t0001g0141
a0001c0001t0001g0156
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0003g0081
a0001c0001t0003g0092
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 27 HG01175.hp2
HG01256.hp1
HG01258.hp2
others(24): Show 
HG01175.hp2
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01891.hp2
HG01934.hp2
HG02145.hp2
HG02258.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp1
HG02965.hp1
HG03041.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03654.hp2
HG03927.hp2
HG04184.hp1
NA19000.hp2
NA19085.hp2
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-16318dupA
c.1518-16318dupA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165802628
chr3:165802628 GT
GT
 G
G
 7 a0001c0001t0001g0234
a0001c0001t0002g0114
a0001c0001t0002g0115
others(4): Show 
a0001c0001t0001g0234
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0002c0002t0002g0035
a0002c0002t0002g0104
 7 HG00621.hp2
HG01169.hp2
HG02165.hp1
others(4): Show 
HG00621.hp2
HG01169.hp2
HG02165.hp1
HG02451.hp1
HG02717.hp2
HG02818.hp1
NA20300.hp1
 intron_variant MODIFIER c.1518-16318delA
c.1518-16318delA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165802628
chr3:165802630 T
T
 G
G
 1 a0002c0002t0002g0100
a0002c0002t0002g0100
 1 NA18965.hp1
NA18965.hp1
 intron_variant MODIFIER c.1518-16319A>C
c.1518-16319A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165802630
chr3:165802647 T
T
 C
C
 1 a0002c0002t0002g0101
a0002c0002t0002g0101
 1 NA18955.hp2
NA18955.hp2
 intron_variant MODIFIER c.1518-16336A>G
c.1518-16336A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165802647
chr3:165802746 T
T
 G
G
 1 a0001c0001t0002g0116
a0001c0001t0002g0116
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.1518-16435A>C
c.1518-16435A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165802746
chr3:165802998 C
C
 A
A
 1 a0001c0001t0002g0246
a0001c0001t0002g0246
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1518-16687G>T
c.1518-16687G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165802998
chr3:165803043 A
A
 G
G
 5 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0232
others(2): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
 9 HG01167.hp2
HG01169.hp2
HG02145.hp1
others(6): Show 
HG01167.hp2
HG01169.hp2
HG02145.hp1
HG02896.hp1
HG02897.hp1
HG03098.hp2
HG03130.hp2
NA18906.hp2
NA19240.hp1
 intron_variant MODIFIER c.1518-16732T>C
c.1518-16732T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165803043
chr3:165803088 A
A
 T
T
 4 a0001c0001t0001g0022
a0001c0001t0001g0155
a0001c0001t0001g0182
others(1): Show 
a0001c0001t0001g0022
a0001c0001t0001g0155
a0001c0001t0001g0182
a0001c0005t0001g0142
 5 NA18956.hp2
NA18957.hp2
NA18980.hp2
others(2): Show 
NA18956.hp2
NA18957.hp2
NA18980.hp2
NA19085.hp2
NA19086.hp1
 intron_variant MODIFIER c.1518-16777T>A
c.1518-16777T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165803088
chr3:165803411 A
A
 G
G
 3 a0001c0001t0001g0022
a0001c0001t0001g0182
a0001c0005t0001g0142
a0001c0001t0001g0022
a0001c0001t0001g0182
a0001c0005t0001g0142
 4 NA18956.hp2
NA18957.hp2
NA19085.hp2
others(1): Show 
NA18956.hp2
NA18957.hp2
NA19085.hp2
NA19086.hp1
 intron_variant MODIFIER c.1518-17100T>C
c.1518-17100T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165803411
chr3:165803443 A
A
 G
G
 2 a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0070
a0001c0001t0001g0071
 2 HG01346.hp1
HG02486.hp2
HG01346.hp1
HG02486.hp2
 intron_variant MODIFIER c.1518-17132T>C
c.1518-17132T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165803443
chr3:165803653 A
A
 T
T
 5 a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
others(2): Show 
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 11 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(8): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-17342T>A
c.1518-17342T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165803653
chr3:165803698 T
T
 C
C
 1 a0001c0001t0001g0113
a0001c0001t0001g0113
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.1518-17387A>G
c.1518-17387A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165803698
chr3:165803833 C
C
 T
T
 1 a0001c0001t0003g0093
a0001c0001t0003g0093
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1518-17522G>A
c.1518-17522G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165803833
chr3:165803834 G
G
 A
A
 8 a0001c0001t0001g0007
a0001c0001t0001g0023
a0001c0001t0001g0037
others(5): Show 
a0001c0001t0001g0007
a0001c0001t0001g0023
a0001c0001t0001g0037
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0170
a0001c0001t0001g0181
a0001c0001t0001g0187
 11 HG02015.hp2
NA18939.hp1
NA18945.hp1
others(8): Show 
HG02015.hp2
NA18939.hp1
NA18945.hp1
NA18965.hp2
NA18984.hp1
NA18991.hp2
NA18998.hp2
NA19000.hp1
NA19065.hp1
NA19074.hp2
NA19083.hp2
 intron_variant MODIFIER c.1518-17523C>T
c.1518-17523C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165803834
chr3:165803893 C
C
 T
T
 1 a0002c0002t0002g0105
a0002c0002t0002g0105
 1 NA18978.hp1
NA18978.hp1
 intron_variant MODIFIER c.1518-17582G>A
c.1518-17582G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165803893
chr3:165804017 A
A
 G
G
 1 a0001c0001t0001g0189
a0001c0001t0001g0189
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.1518-17706T>C
c.1518-17706T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165804017
chr3:165804028 G
G
 C
C
 49 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(46): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 59 HG00099.hp2
HG00423.hp2
HG00621.hp1
others(56): Show 
HG00099.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01934.hp1
HG01943.hp2
HG02015.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03669.hp1
HG03704.hp1
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18957.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19012.hp1
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.1518-17717C>G
c.1518-17717C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165804028
chr3:165804056 G
G
 GA
GA
 90 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(87): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0037
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0222
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0092
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0062
a0002c0002t0002g0165
a0005c0007t0001g0186
 115 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(112): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02683.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03490.hp1
HG03490.hp2
HG03654.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp2
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp2
NA19030.hp2
NA19060.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1518-17746dupT
c.1518-17746dupT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165804056
chr3:165804155 T
T
 C
C
 3 a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
 3 HG02055.hp1
HG02258.hp2
HG02965.hp2
HG02055.hp1
HG02258.hp2
HG02965.hp2
 intron_variant MODIFIER c.1518-17844A>G
c.1518-17844A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165804155
chr3:165804317 A
A
 G
G
 1 a0001c0001t0001g0130
a0001c0001t0001g0130
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1518-18006T>C
c.1518-18006T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165804317
chr3:165804578 G
G
 A
A
 2 a0001c0001t0001g0022
a0001c0005t0001g0142
a0001c0001t0001g0022
a0001c0005t0001g0142
 3 NA18956.hp2
NA18957.hp2
NA19086.hp1
NA18956.hp2
NA18957.hp2
NA19086.hp1
 intron_variant MODIFIER c.1518-18267C>T
c.1518-18267C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165804578
chr3:165804604 C
C
 T
T
 12 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(9): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 20 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(17): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02145.hp2
HG02258.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp1
HG02965.hp1
HG03041.hp2
HG03486.hp2
HG03540.hp2
HG03654.hp2
HG03927.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-18293G>A
c.1518-18293G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165804604
chr3:165804717 A
A
 G
G
 5 a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
others(2): Show 
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 11 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(8): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-18406T>C
c.1518-18406T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165804717
chr3:165804816 C
C
 T
T
 139 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(136): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 171 HG00099.hp1
HG00140.hp1
HG00544.hp1
others(168): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03098.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03516.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1518-18505G>A
c.1518-18505G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165804816
chr3:165804925 G
G
 C
C
 1 a0001c0001t0001g0047
a0001c0001t0001g0047
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.1518-18614C>G
c.1518-18614C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165804925
chr3:165805081 C
C
 A
A
 1 a0001c0001t0002g0245
a0001c0001t0002g0245
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.1518-18770G>T
c.1518-18770G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165805081
chr3:165805279 A
A
 G
G
 1 a0001c0001t0001g0028
a0001c0001t0001g0028
 2 HG01192.hp2
HG02273.hp2
HG01192.hp2
HG02273.hp2
 intron_variant MODIFIER c.1518-18968T>C
c.1518-18968T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165805279
chr3:165805406 A
A
 T
T
 4 a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
others(1): Show 
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
 5 HG01496.hp2
HG02055.hp2
HG02615.hp2
others(2): Show 
HG01496.hp2
HG02055.hp2
HG02615.hp2
HG02976.hp1
NA19043.hp1
 intron_variant MODIFIER c.1518-19095T>A
c.1518-19095T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165805406
chr3:165805528 A
A
 C
C
 14 a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
others(11): Show 
a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
 17 HG00140.hp2
HG01106.hp2
HG01358.hp2
others(14): Show 
HG00140.hp2
HG01106.hp2
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02109.hp1
HG02280.hp2
HG02723.hp1
HG02886.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03490.hp1
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.1518-19217T>G
c.1518-19217T>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165805528
chr3:165805597 T
T
 C
C
 1 a0001c0001t0003g0092
a0001c0001t0003g0092
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.1518-19286A>G
c.1518-19286A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165805597
chr3:165805775 T
T
 C
C
 1 a0001c0001t0003g0093
a0001c0001t0003g0093
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1518-19464A>G
c.1518-19464A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165805775
chr3:165805878 C
C
 T
T
 1 a0001c0001t0001g0229
a0001c0001t0001g0229
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.1518-19567G>A
c.1518-19567G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165805878
chr3:165806089 C
C
 T
T
 5 a0001c0001t0003g0052
a0001c0001t0003g0075
a0001c0001t0003g0076
others(2): Show 
a0001c0001t0003g0052
a0001c0001t0003g0075
a0001c0001t0003g0076
a0001c0001t0003g0088
a0001c0001t0003g0089
 5 HG02280.hp1
HG02486.hp1
HG02723.hp2
others(2): Show 
HG02280.hp1
HG02486.hp1
HG02723.hp2
HG03225.hp1
HG03516.hp1
 intron_variant MODIFIER c.1518-19778G>A
c.1518-19778G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165806089
chr3:165806243 C
C
 T
T
 5 a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0194
others(2): Show 
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0205
 7 HG00099.hp2
HG00639.hp1
HG00642.hp1
others(4): Show 
HG00099.hp2
HG00639.hp1
HG00642.hp1
HG01257.hp2
HG01258.hp1
HG01943.hp2
HG03669.hp1
 intron_variant MODIFIER c.1518-19932G>A
c.1518-19932G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165806243
chr3:165806368 G
G
 C
C
 1 a0001c0001t0001g0171
a0001c0001t0001g0171
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.1518-20057C>G
c.1518-20057C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165806368
chr3:165806451 G
G
 T
T
 139 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(136): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 171 HG00099.hp1
HG00140.hp1
HG00544.hp1
others(168): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03098.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03516.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1518-20140C>A
c.1518-20140C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165806451
chr3:165806479 C
C
 T
T
 3 a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
 3 HG02055.hp1
HG02258.hp2
HG02965.hp2
HG02055.hp1
HG02258.hp2
HG02965.hp2
 intron_variant MODIFIER c.1518-20168G>A
c.1518-20168G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165806479
chr3:165806523 A
A
 G
G
 3 a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0133
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0133
 3 HG00140.hp1
HG00642.hp2
HG01106.hp1
HG00140.hp1
HG00642.hp2
HG01106.hp1
 intron_variant MODIFIER c.1518-20212T>C
c.1518-20212T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165806523
chr3:165806536 C
C
 T
T
 1 a0001c0001t0003g0053
a0001c0001t0003g0053
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.1518-20225G>A
c.1518-20225G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165806536
chr3:165806584 GA
GA
 G
G
 4 a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
others(1): Show 
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
 5 HG01496.hp2
HG02055.hp2
HG02615.hp2
others(2): Show 
HG01496.hp2
HG02055.hp2
HG02615.hp2
HG02976.hp1
NA19043.hp1
 intron_variant MODIFIER c.1518-20274delT
c.1518-20274delT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165806584
chr3:165806895 C
C
 T
T
 130 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(127): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 159 HG00099.hp1
HG00140.hp1
HG00544.hp1
others(156): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1518-20584G>A
c.1518-20584G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165806895
chr3:165806913 T
T
 G
G
 1 a0001c0001t0001g0173
a0001c0001t0001g0173
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.1518-20602A>C
c.1518-20602A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165806913
chr3:165807053 C
C
 T
T
 1 a0001c0001t0001g0152
a0001c0001t0001g0152
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.1518-20742G>A
c.1518-20742G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165807053
chr3:165807072 G
G
 T
T
 113 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(110): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0009g0103
a0005c0007t0001g0186
a0006c0006t0002g0094
 139 HG00099.hp1
HG00140.hp1
HG00544.hp1
others(136): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1518-20761C>A
c.1518-20761C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165807072
chr3:165807201 C
C
 T
T
 1 a0001c0001t0001g0048
a0001c0001t0001g0048
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1518-20890G>A
c.1518-20890G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165807201
chr3:165807230 A
A
 G
G
 1 a0001c0001t0003g0085
a0001c0001t0003g0085
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.1518-20919T>C
c.1518-20919T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165807230
chr3:165807517 G
G
 GATTT
GATTT
 18 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0025
others(15): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0113
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0205
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
 22 HG00099.hp2
HG00639.hp1
HG00642.hp1
others(19): Show 
HG00099.hp2
HG00639.hp1
HG00642.hp1
HG01257.hp2
HG01258.hp1
HG01943.hp2
HG02055.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03486.hp2
HG03669.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.1518-21210_1518-21
others(10): Show 
c.1518-21210_1518-21207dupAAAT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165807517
chr3:165807546 A
A
 T
T
 4 a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
others(1): Show 
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
 4 HG02970.hp1
HG02970.hp2
NA19043.hp2
others(1): Show 
HG02970.hp1
HG02970.hp2
NA19043.hp2
NA21309.hp2
 intron_variant MODIFIER c.1518-21235T>A
c.1518-21235T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165807546
chr3:165807550 T
T
 A
A
 2 a0001c0001t0001g0128
a0001c0001t0003g0138
a0001c0001t0001g0128
a0001c0001t0003g0138
 2 HG00642.hp2
NA18906.hp1
HG00642.hp2
NA18906.hp1
 intron_variant MODIFIER c.1518-21239A>T
c.1518-21239A>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165807550
chr3:165807552 A
A
 T
T
 14 a0001c0001t0001g0128
a0001c0001t0003g0006
a0001c0001t0003g0038
others(11): Show 
a0001c0001t0001g0128
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0007c0008t0003g0041
 16 HG00642.hp2
HG02559.hp2
HG02572.hp1
others(13): Show 
HG00642.hp2
HG02559.hp2
HG02572.hp1
HG02622.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02970.hp1
HG02970.hp2
HG03195.hp2
HG03209.hp1
NA18522.hp2
NA18906.hp1
NA19043.hp2
NA21309.hp2
 intron_variant MODIFIER c.1518-21241T>A
c.1518-21241T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165807552
chr3:165807556 A
A
 T
T
 1 a0001c0001t0007g0135
a0001c0001t0007g0135
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1518-21245T>A
c.1518-21245T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165807556
chr3:165807610 G
G
 C
C
 2 a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0067
a0002c0002t0002g0068
 2 NA18975.hp1
NA19060.hp2
NA18975.hp1
NA19060.hp2
 intron_variant MODIFIER c.1518-21299C>G
c.1518-21299C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165807610
chr3:165807645 C
C
 T
T
 1 a0001c0001t0002g0030
a0001c0001t0002g0030
 2 HG01891.hp1
HG03209.hp2
HG01891.hp1
HG03209.hp2
 intron_variant MODIFIER c.1518-21334G>A
c.1518-21334G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165807645
chr3:165807649 G
G
 A
A
 1 a0001c0001t0001g0172
a0001c0001t0001g0172
 1 HG01169.hp1
HG01169.hp1
 intron_variant MODIFIER c.1518-21338C>T
c.1518-21338C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165807649
chr3:165807750 G
G
 C
C
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.1518-21439C>G
c.1518-21439C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165807750
chr3:165807880 A
A
 G
G
 3 a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0216
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0216
 3 HG00621.hp1
HG02080.hp1
HG02083.hp1
HG00621.hp1
HG02080.hp1
HG02083.hp1
 intron_variant MODIFIER c.1518-21569T>C
c.1518-21569T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165807880
chr3:165807967 T
T
 G
G
 1 a0001c0001t0001g0223
a0001c0001t0001g0223
 1 NA19083.hp1
NA19083.hp1
 intron_variant MODIFIER c.1517+21550A>C
c.1517+21550A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165807967
chr3:165807973 G
G
 GT
GT
 6 a0001c0001t0001g0008
a0001c0001t0001g0175
a0001c0001t0001g0176
others(3): Show 
a0001c0001t0001g0008
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0002c0002t0002g0062
 8 HG01257.hp1
HG01261.hp1
HG01346.hp2
others(5): Show 
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01943.hp1
HG01978.hp1
HG01978.hp2
 intron_variant MODIFIER c.1517+21543dupA
c.1517+21543dupA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165807973
chr3:165807992 G
G
 T
T
 3 a0001c0001t0001g0021
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0021
a0001c0001t0001g0179
a0001c0001t0001g0180
 4 HG02040.hp2
HG02155.hp2
HG02165.hp2
others(1): Show 
HG02040.hp2
HG02155.hp2
HG02165.hp2
NA19000.hp2
 intron_variant MODIFIER c.1517+21525C>A
c.1517+21525C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165807992
chr3:165808070 G
G
 T
T
 1 a0002c0002t0002g0056
a0002c0002t0002g0056
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.1517+21447C>A
c.1517+21447C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165808070
chr3:165808074 C
C
 CA
CA
 4 a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
others(1): Show 
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0007c0008t0003g0041
 4 HG02572.hp1
HG02809.hp2
HG02886.hp2
others(1): Show 
HG02572.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
 intron_variant MODIFIER c.1517+21442dupT
c.1517+21442dupT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165808074
chr3:165808129 G
G
 T
T
 1 a0001c0001t0003g0088
a0001c0001t0003g0088
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1517+21388C>A
c.1517+21388C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165808129
chr3:165808154 T
T
 G
G
 4 a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
others(1): Show 
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
 4 HG02451.hp1
HG02717.hp2
HG02818.hp1
others(1): Show 
HG02451.hp1
HG02717.hp2
HG02818.hp1
NA20300.hp1
 intron_variant MODIFIER c.1517+21363A>C
c.1517+21363A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165808154
chr3:165808351 T
T
 C
C
 7 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(4): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
 9 HG02145.hp2
HG02258.hp1
HG02622.hp1
others(6): Show 
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02647.hp2
HG02717.hp1
HG02965.hp1
HG03041.hp2
HG03486.hp2
NA20129.hp1
 intron_variant MODIFIER c.1517+21166A>G
c.1517+21166A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165808351
chr3:165808782 G
G
 A
A
 246 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(243): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0006
a0001c0001t0003g0031
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0042
a0001c0001t0003g0043
a0001c0001t0003g0046
a0001c0001t0003g0052
a0001c0001t0003g0053
a0001c0001t0003g0072
a0001c0001t0003g0075
a0001c0001t0003g0076
a0001c0001t0003g0077
a0001c0001t0003g0078
a0001c0001t0003g0079
a0001c0001t0003g0080
a0001c0001t0003g0081
a0001c0001t0003g0082
a0001c0001t0003g0083
a0001c0001t0003g0084
a0001c0001t0003g0085
a0001c0001t0003g0086
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0090
a0001c0001t0003g0091
a0001c0001t0003g0092
a0001c0001t0003g0093
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 300 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(297): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+20735C>T
c.1517+20735C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165808782
chr3:165808818 A
A
 G
G
 9 a0001c0001t0001g0113
a0001c0001t0002g0005
a0001c0001t0002g0019
others(6): Show 
a0001c0001t0001g0113
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
 12 HG02451.hp1
HG02615.hp1
HG02647.hp1
others(9): Show 
HG02451.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG03098.hp1
HG03516.hp2
NA18522.hp1
NA19030.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.1517+20699T>C
c.1517+20699T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165808818
chr3:165809056 A
A
 G
G
 2 a0001c0001t0001g0013
a0001c0001t0001g0048
a0001c0001t0001g0013
a0001c0001t0001g0048
 3 HG02258.hp1
HG02622.hp1
HG02965.hp1
HG02258.hp1
HG02622.hp1
HG02965.hp1
 intron_variant MODIFIER c.1517+20461T>C
c.1517+20461T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165809056
chr3:165809083 T
T
 C
C
 4 a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
others(1): Show 
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0006c0006t0002g0094
 4 NA18968.hp1
NA18982.hp1
NA18985.hp1
others(1): Show 
NA18968.hp1
NA18982.hp1
NA18985.hp1
NA19085.hp1
 intron_variant MODIFIER c.1517+20434A>G
c.1517+20434A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165809083
chr3:165809102 T
T
 C
C
 7 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(4): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
 9 HG02145.hp2
HG02258.hp1
HG02622.hp1
others(6): Show 
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02647.hp2
HG02717.hp1
HG02965.hp1
HG03041.hp2
HG03486.hp2
NA20129.hp1
 intron_variant MODIFIER c.1517+20415A>G
c.1517+20415A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165809102
chr3:165809146 T
T
 C
C
 9 a0001c0001t0001g0113
a0001c0001t0002g0005
a0001c0001t0002g0019
others(6): Show 
a0001c0001t0001g0113
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
 12 HG02451.hp1
HG02615.hp1
HG02647.hp1
others(9): Show 
HG02451.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG03098.hp1
HG03516.hp2
NA18522.hp1
NA19030.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.1517+20371A>G
c.1517+20371A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165809146
chr3:165809246 G
G
 A
A
 14 a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
others(11): Show 
a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
 17 HG00140.hp2
HG01106.hp2
HG01358.hp2
others(14): Show 
HG00140.hp2
HG01106.hp2
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02109.hp1
HG02280.hp2
HG02723.hp1
HG02886.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03490.hp1
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.1517+20271C>T
c.1517+20271C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165809246
chr3:165809262 G
G
 C
C
 1 a0001c0001t0001g0216
a0001c0001t0001g0216
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.1517+20255C>G
c.1517+20255C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165809262
chr3:165809591 C
C
 A
A
 49 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(46): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 59 HG00099.hp2
HG00423.hp2
HG00621.hp1
others(56): Show 
HG00099.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01934.hp1
HG01943.hp2
HG02015.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03669.hp1
HG03704.hp1
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18957.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19012.hp1
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.1517+19926G>T
c.1517+19926G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165809591
chr3:165809605 TTGTATTA
others(7): Show 
TTGTATTAAGGCAAA
 T
T
 1 a0001c0001t0001g0047
a0001c0001t0001g0047
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.1517+19898_1517+19
others(20): Show 
c.1517+19898_1517+19911delTTTGCCTTAATACA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165809605
chr3:165809785 T
T
 C
C
 130 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(127): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 159 HG00099.hp1
HG00140.hp1
HG00544.hp1
others(156): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1517+19732A>G
c.1517+19732A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165809785
chr3:165809952 C
C
 T
T
 1 a0002c0002t0002g0062
a0002c0002t0002g0062
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.1517+19565G>A
c.1517+19565G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165809952
chr3:165810178 T
T
 C
C
 1 a0001c0001t0001g0113
a0001c0001t0001g0113
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.1517+19339A>G
c.1517+19339A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165810178
chr3:165810666 T
T
 C
C
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.1517+18851A>G
c.1517+18851A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165810666
chr3:165810949 C
C
 A
A
 9 a0001c0001t0001g0113
a0001c0001t0002g0005
a0001c0001t0002g0019
others(6): Show 
a0001c0001t0001g0113
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
 12 HG02451.hp1
HG02615.hp1
HG02647.hp1
others(9): Show 
HG02451.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG03098.hp1
HG03516.hp2
NA18522.hp1
NA19030.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.1517+18568G>T
c.1517+18568G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165810949
chr3:165810984 T
T
 A
A
 1 a0002c0002t0002g0102
a0002c0002t0002g0102
 1 NA18956.hp1
NA18956.hp1
 intron_variant MODIFIER c.1517+18533A>T
c.1517+18533A>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165810984
chr3:165811097 A
A
 G
G
 221 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(218): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 274 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(271): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+18420T>C
c.1517+18420T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165811097
chr3:165811175 A
A
 G
G
 1 a0001c0001t0001g0151
a0001c0001t0001g0151
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.1517+18342T>C
c.1517+18342T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165811175
chr3:165811234 A
A
 G
G
 1 a0002c0002t0004g0002
a0002c0002t0004g0002
 5 HG01256.hp1
HG01258.hp2
HG01934.hp2
others(2): Show 
HG01256.hp1
HG01258.hp2
HG01934.hp2
HG02602.hp2
HG02738.hp1
 intron_variant MODIFIER c.1517+18283T>C
c.1517+18283T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165811234
chr3:165811262 A
A
 G
G
 7 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(4): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
 9 HG02145.hp2
HG02258.hp1
HG02622.hp1
others(6): Show 
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02647.hp2
HG02717.hp1
HG02965.hp1
HG03041.hp2
HG03486.hp2
NA20129.hp1
 intron_variant MODIFIER c.1517+18255T>C
c.1517+18255T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165811262
chr3:165811283 A
A
 T
T
 1 a0002c0002t0002g0095
a0002c0002t0002g0095
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.1517+18234T>A
c.1517+18234T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165811283
chr3:165811323 A
A
 C
C
 221 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(218): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 274 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(271): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+18194T>G
c.1517+18194T>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165811323
chr3:165811367 A
A
 T
T
 1 a0002c0002t0002g0098
a0002c0002t0002g0098
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.1517+18150T>A
c.1517+18150T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165811367
chr3:165811389 A
A
 G
G
 2 a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0070
a0001c0001t0001g0071
 2 HG01346.hp1
HG02486.hp2
HG01346.hp1
HG02486.hp2
 intron_variant MODIFIER c.1517+18128T>C
c.1517+18128T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165811389
chr3:165811433 A
A
 AGT
AGT
 221 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(218): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 274 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(271): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+18082_1517+18
others(8): Show 
c.1517+18082_1517+18083dupAC
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165811433
chr3:165811667 T
T
 A
A
 7 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(4): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
 9 HG02145.hp2
HG02258.hp1
HG02622.hp1
others(6): Show 
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02647.hp2
HG02717.hp1
HG02965.hp1
HG03041.hp2
HG03486.hp2
NA20129.hp1
 intron_variant MODIFIER c.1517+17850A>T
c.1517+17850A>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165811667
chr3:165811723 T
T
 C
C
 7 a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0114
others(4): Show 
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
 10 HG02451.hp1
HG02615.hp1
HG02647.hp1
others(7): Show 
HG02451.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG03098.hp1
HG03516.hp2
NA18522.hp1
NA20300.hp1
 intron_variant MODIFIER c.1517+17794A>G
c.1517+17794A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165811723
chr3:165811825 G
G
 A
A
 1 a0002c0002t0002g0062
a0002c0002t0002g0062
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.1517+17692C>T
c.1517+17692C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165811825
chr3:165811908 C
C
 T
T
 1 a0001c0001t0002g0238
a0001c0001t0002g0238
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1517+17609G>A
c.1517+17609G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165811908
chr3:165812074 C
C
 T
T
 1 a0001c0001t0003g0031
a0001c0001t0003g0031
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.1517+17443G>A
c.1517+17443G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165812074
chr3:165812151 C
C
 T
T
 4 a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
others(1): Show 
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
 5 HG01496.hp2
HG02055.hp2
HG02615.hp2
others(2): Show 
HG01496.hp2
HG02055.hp2
HG02615.hp2
HG02976.hp1
NA19043.hp1
 intron_variant MODIFIER c.1517+17366G>A
c.1517+17366G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165812151
chr3:165812235 C
C
 A
A
 1 a0001c0001t0001g0178
a0001c0001t0001g0178
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.1517+17282G>T
c.1517+17282G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165812235
chr3:165812236 T
T
 A
A
 1 a0001c0001t0001g0178
a0001c0001t0001g0178
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.1517+17281A>T
c.1517+17281A>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165812236
chr3:165812286 A
A
 AT
AT
 218 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(215): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0006
a0001c0001t0003g0031
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 272 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(269): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+17230dupA
c.1517+17230dupA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165812286
chr3:165812344 C
C
 G
G
 1 a0001c0001t0001g0127
a0001c0001t0001g0127
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1517+17173G>C
c.1517+17173G>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165812344
chr3:165812363 C
C
 T
T
 1 a0002c0002t0002g0063
a0002c0002t0002g0063
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.1517+17154G>A
c.1517+17154G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165812363
chr3:165812499 C
C
 G
G
 1 a0001c0001t0003g0080
a0001c0001t0003g0080
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.1517+17018G>C
c.1517+17018G>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165812499
chr3:165812555 T
T
 C
C
 5 a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
others(2): Show 
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 11 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(8): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+16962A>G
c.1517+16962A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165812555
chr3:165812615 G
G
 A
A
 1 a0001c0001t0003g0134
a0001c0001t0003g0134
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.1517+16902C>T
c.1517+16902C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165812615
chr3:165812646 A
A
 T
T
 49 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(46): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 59 HG00099.hp2
HG00423.hp2
HG00621.hp1
others(56): Show 
HG00099.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01934.hp1
HG01943.hp2
HG02015.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03669.hp1
HG03704.hp1
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18957.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19012.hp1
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.1517+16871T>A
c.1517+16871T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165812646
chr3:165812718 T
T
 C
C
 1 a0002c0002t0009g0103
a0002c0002t0009g0103
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.1517+16799A>G
c.1517+16799A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165812718
chr3:165812724 C
C
 A
A
 3 a0001c0001t0003g0072
a0001c0001t0003g0083
a0001c0001t0003g0084
a0001c0001t0003g0072
a0001c0001t0003g0083
a0001c0001t0003g0084
 3 NA18983.hp1
NA18984.hp2
NA18988.hp1
NA18983.hp1
NA18984.hp2
NA18988.hp1
 intron_variant MODIFIER c.1517+16793G>T
c.1517+16793G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165812724
chr3:165812847 T
T
 A
A
 9 a0001c0001t0001g0113
a0001c0001t0002g0005
a0001c0001t0002g0019
others(6): Show 
a0001c0001t0001g0113
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
 12 HG02451.hp1
HG02615.hp1
HG02647.hp1
others(9): Show 
HG02451.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG03098.hp1
HG03516.hp2
NA18522.hp1
NA19030.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.1517+16670A>T
c.1517+16670A>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165812847
chr3:165812870 G
G
 A
A
 3 a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
 3 HG02055.hp1
HG02258.hp2
HG02965.hp2
HG02055.hp1
HG02258.hp2
HG02965.hp2
 intron_variant MODIFIER c.1517+16647C>T
c.1517+16647C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165812870
chr3:165812872 G
G
 T
T
 3 a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
 3 HG02055.hp1
HG02258.hp2
HG02965.hp2
HG02055.hp1
HG02258.hp2
HG02965.hp2
 intron_variant MODIFIER c.1517+16645C>A
c.1517+16645C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165812872
chr3:165812959 A
A
 G
G
 35 a0001c0001t0001g0058
a0001c0001t0001g0059
a0002c0002t0002g0004
others(32): Show 
a0001c0001t0001g0058
a0001c0001t0001g0059
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0009g0103
a0006c0006t0002g0094
 39 HG00544.hp1
HG00609.hp2
HG00621.hp2
others(36): Show 
HG00544.hp1
HG00609.hp2
HG00621.hp2
HG01074.hp1
HG01167.hp1
HG01978.hp2
HG02040.hp1
HG02056.hp2
HG02165.hp1
HG02602.hp1
HG02683.hp2
HG03239.hp2
HG03927.hp1
NA18941.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp2
NA18955.hp2
NA18956.hp1
NA18961.hp2
NA18962.hp1
NA18965.hp1
NA18968.hp1
NA18975.hp1
NA18978.hp1
NA18982.hp1
NA18985.hp1
NA18988.hp2
NA18994.hp2
NA18998.hp1
NA19002.hp2
NA19058.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp2
NA19068.hp2
NA19081.hp2
NA19085.hp1
 intron_variant MODIFIER c.1517+16558T>C
c.1517+16558T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165812959
chr3:165813037 C
C
 A
A
 1 a0001c0001t0002g0116
a0001c0001t0002g0116
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.1517+16480G>T
c.1517+16480G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165813037
chr3:165813060 TC
TC
 T
T
 130 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(127): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 159 HG00099.hp1
HG00140.hp1
HG00544.hp1
others(156): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1517+16456delG
c.1517+16456delG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165813060
chr3:165813071 T
T
 C
C
 1 a0002c0002t0002g0104
a0002c0002t0002g0104
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.1517+16446A>G
c.1517+16446A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165813071
chr3:165813139 G
G
 C
C
 1 a0001c0001t0001g0173
a0001c0001t0001g0173
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.1517+16378C>G
c.1517+16378C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165813139
chr3:165813142 G
G
 C
C
 1 a0002c0002t0004g0034
a0002c0002t0004g0034
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1517+16375C>G
c.1517+16375C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165813142
chr3:165813438 C
C
 A
A
 3 a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
 3 HG02055.hp1
HG02258.hp2
HG02965.hp2
HG02055.hp1
HG02258.hp2
HG02965.hp2
 intron_variant MODIFIER c.1517+16079G>T
c.1517+16079G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165813438
chr3:165813449 G
G
 C
C
 7 a0001c0001t0001g0070
a0001c0001t0001g0071
a0002c0002t0002g0054
others(4): Show 
a0001c0001t0001g0070
a0001c0001t0001g0071
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
 7 HG01346.hp1
HG02055.hp1
HG02109.hp2
others(4): Show 
HG01346.hp1
HG02055.hp1
HG02109.hp2
HG02258.hp2
HG02486.hp2
HG02572.hp2
HG02965.hp2
 intron_variant MODIFIER c.1517+16068C>G
c.1517+16068C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165813449
chr3:165813562 C
C
 T
T
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 2 NA18985.hp2
NA19002.hp1
NA18985.hp2
NA19002.hp1
 intron_variant MODIFIER c.1517+15955G>A
c.1517+15955G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165813562
chr3:165813701 A
A
 G
G
 1 a0001c0001t0003g0139
a0001c0001t0003g0139
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1517+15816T>C
c.1517+15816T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165813701
chr3:165813701 A
A
 T
T
 1 a0001c0001t0003g0053
a0001c0001t0003g0053
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.1517+15816T>A
c.1517+15816T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165813701
chr3:165813838 A
A
 G
G
 1 a0002c0002t0002g0062
a0002c0002t0002g0062
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.1517+15679T>C
c.1517+15679T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165813838
chr3:165813908 A
A
 G
G
 4 a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
others(1): Show 
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
 5 HG01496.hp2
HG02055.hp2
HG02615.hp2
others(2): Show 
HG01496.hp2
HG02055.hp2
HG02615.hp2
HG02976.hp1
NA19043.hp1
 intron_variant MODIFIER c.1517+15609T>C
c.1517+15609T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165813908
chr3:165814218 A
A
 AT
AT
 49 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(46): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 59 HG00099.hp2
HG00423.hp2
HG00621.hp1
others(56): Show 
HG00099.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01934.hp1
HG01943.hp2
HG02015.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03669.hp1
HG03704.hp1
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18957.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19012.hp1
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.1517+15298dupA
c.1517+15298dupA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165814218
chr3:165814467 C
C
 T
T
 1 a0001c0001t0002g0045
a0001c0001t0002g0045
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1517+15050G>A
c.1517+15050G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165814467
chr3:165814525 G
G
 A
A
 9 a0001c0001t0001g0113
a0001c0001t0002g0005
a0001c0001t0002g0019
others(6): Show 
a0001c0001t0001g0113
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
 12 HG02451.hp1
HG02615.hp1
HG02647.hp1
others(9): Show 
HG02451.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG03098.hp1
HG03516.hp2
NA18522.hp1
NA19030.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.1517+14992C>T
c.1517+14992C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165814525
chr3:165814571 A
A
 G
G
 1 a0002c0002t0008g0120
a0002c0002t0008g0120
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.1517+14946T>C
c.1517+14946T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165814571
chr3:165814620 A
A
 C
C
 207 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(204): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 257 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(254): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+14897T>G
c.1517+14897T>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165814620
chr3:165814744 T
T
 G
G
 5 a0002c0002t0002g0004
a0002c0002t0002g0017
a0002c0002t0002g0096
others(2): Show 
a0002c0002t0002g0004
a0002c0002t0002g0017
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0105
 8 NA18944.hp2
NA18945.hp2
NA18950.hp2
others(5): Show 
NA18944.hp2
NA18945.hp2
NA18950.hp2
NA18978.hp1
NA18988.hp2
NA18998.hp1
NA19058.hp2
NA19068.hp2
 intron_variant MODIFIER c.1517+14773A>C
c.1517+14773A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165814744
chr3:165814864 C
C
 G
G
 1 a0001c0001t0003g0134
a0001c0001t0003g0134
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.1517+14653G>C
c.1517+14653G>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165814864
chr3:165815127 C
C
 T
T
 1 a0001c0001t0001g0150
a0001c0001t0001g0150
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.1517+14390G>A
c.1517+14390G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165815127
chr3:165815247 GA
GA
 G
G
 40 a0001c0001t0001g0059
a0001c0001t0003g0092
a0002c0002t0002g0004
others(37): Show 
a0001c0001t0001g0059
a0001c0001t0003g0092
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0009g0103
a0004c0004t0004g0032
a0006c0006t0002g0094
 50 HG00544.hp1
HG00609.hp2
HG00621.hp2
others(47): Show 
HG00544.hp1
HG00609.hp2
HG00621.hp2
HG01074.hp1
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG01978.hp2
HG02040.hp1
HG02056.hp2
HG02165.hp1
HG02602.hp1
HG02602.hp2
HG02683.hp2
HG02735.hp1
HG02738.hp1
HG03239.hp2
HG03540.hp2
HG03654.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp1
NA18941.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp2
NA18955.hp2
NA18956.hp1
NA18961.hp2
NA18962.hp1
NA18965.hp1
NA18968.hp1
NA18975.hp1
NA18978.hp1
NA18982.hp1
NA18985.hp1
NA18988.hp2
NA18994.hp2
NA18998.hp1
NA19002.hp2
NA19058.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp2
NA19068.hp2
NA19081.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+14269delT
c.1517+14269delT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165815247
chr3:165815247 GAA
GAA
 G
G
 159 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(156): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0165
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0005c0007t0001g0186
a0007c0008t0003g0041
 198 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(195): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03516.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1517+14268_1517+14
others(8): Show 
c.1517+14268_1517+14269delTT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165815247
chr3:165815379 A
A
 G
G
 1 a0001c0001t0001g0126
a0001c0001t0001g0126
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.1517+14138T>C
c.1517+14138T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165815379
chr3:165815821 C
C
 A
A
 2 a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0050
a0001c0001t0001g0051
 2 HG02145.hp2
HG02647.hp2
HG02145.hp2
HG02647.hp2
 intron_variant MODIFIER c.1517+13696G>T
c.1517+13696G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165815821
chr3:165815953 T
T
 C
C
 1 a0001c0001t0002g0246
a0001c0001t0002g0246
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1517+13564A>G
c.1517+13564A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165815953
chr3:165816121 T
T
 C
C
 4 a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
others(1): Show 
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
 5 HG01496.hp2
HG02055.hp2
HG02615.hp2
others(2): Show 
HG01496.hp2
HG02055.hp2
HG02615.hp2
HG02976.hp1
NA19043.hp1
 intron_variant MODIFIER c.1517+13396A>G
c.1517+13396A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165816121
chr3:165816163 G
G
 A
A
 222 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(219): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0006
a0001c0001t0003g0031
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 276 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(273): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+13354C>T
c.1517+13354C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165816163
chr3:165816194 C
C
 A
A
 5 a0001c0001t0001g0008
a0001c0001t0001g0175
a0001c0001t0001g0176
others(2): Show 
a0001c0001t0001g0008
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
 7 HG01257.hp1
HG01261.hp1
HG01346.hp2
others(4): Show 
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01943.hp1
HG01978.hp1
 intron_variant MODIFIER c.1517+13323G>T
c.1517+13323G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165816194
chr3:165816410 G
G
 A
A
 6 a0001c0001t0001g0009
a0001c0001t0001g0028
a0001c0001t0001g0197
others(3): Show 
a0001c0001t0001g0009
a0001c0001t0001g0028
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0217
a0001c0001t0001g0218
 9 HG00738.hp2
HG01175.hp1
HG01192.hp2
others(6): Show 
HG00738.hp2
HG01175.hp1
HG01192.hp2
HG01934.hp1
HG02273.hp2
HG02293.hp2
NA18960.hp1
NA18982.hp2
NA19081.hp1
 intron_variant MODIFIER c.1517+13107C>T
c.1517+13107C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165816410
chr3:165816479 G
G
 A
A
 49 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(46): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 59 HG00099.hp2
HG00423.hp2
HG00621.hp1
others(56): Show 
HG00099.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01934.hp1
HG01943.hp2
HG02015.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03669.hp1
HG03704.hp1
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18957.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19012.hp1
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.1517+13038C>T
c.1517+13038C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165816479
chr3:165816484 ATG
ATG
 A
A
 5 a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
others(2): Show 
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 11 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(8): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+13031_1517+13
others(8): Show 
c.1517+13031_1517+13032delCA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165816484
chr3:165816561 T
T
 A
A
 8 a0001c0001t0001g0044
a0001c0001t0001g0196
a0001c0001t0001g0199
others(5): Show 
a0001c0001t0001g0044
a0001c0001t0001g0196
a0001c0001t0001g0199
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
 8 HG00423.hp2
HG02015.hp1
HG02129.hp2
others(5): Show 
HG00423.hp2
HG02015.hp1
HG02129.hp2
HG02523.hp1
NA18957.hp1
NA18989.hp1
NA19083.hp1
NA19086.hp2
 intron_variant MODIFIER c.1517+12956A>T
c.1517+12956A>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165816561
chr3:165816922 C
C
 A
A
 5 a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
others(2): Show 
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 5 HG01433.hp2
HG02895.hp1
HG02897.hp2
others(2): Show 
HG01433.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG03225.hp2
 intron_variant MODIFIER c.1517+12595G>T
c.1517+12595G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165816922
chr3:165817267 A
A
 G
G
 1 a0001c0001t0001g0230
a0001c0001t0001g0230
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.1517+12250T>C
c.1517+12250T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165817267
chr3:165817325 G
G
 T
T
 200 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(197): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 250 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(247): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+12192C>A
c.1517+12192C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165817325
chr3:165817569 A
A
 G
G
 9 a0001c0001t0001g0113
a0001c0001t0002g0005
a0001c0001t0002g0019
others(6): Show 
a0001c0001t0001g0113
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
 12 HG02451.hp1
HG02615.hp1
HG02647.hp1
others(9): Show 
HG02451.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG03098.hp1
HG03516.hp2
NA18522.hp1
NA19030.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.1517+11948T>C
c.1517+11948T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165817569
chr3:165817656 G
G
 T
T
 1 a0001c0001t0001g0125
a0001c0001t0001g0125
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.1517+11861C>A
c.1517+11861C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165817656
chr3:165817711 G
G
 T
T
 1 a0001c0001t0001g0202
a0001c0001t0001g0202
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1517+11806C>A
c.1517+11806C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165817711
chr3:165817713 T
T
 C
C
 12 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(9): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 20 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(17): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02145.hp2
HG02258.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp1
HG02965.hp1
HG03041.hp2
HG03486.hp2
HG03540.hp2
HG03654.hp2
HG03927.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+11804A>G
c.1517+11804A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165817713
chr3:165817797 A
A
 G
G
 1 a0002c0002t0002g0061
a0002c0002t0002g0061
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.1517+11720T>C
c.1517+11720T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165817797
chr3:165817998 A
A
 G
G
 7 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(4): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
 9 HG02145.hp2
HG02258.hp1
HG02622.hp1
others(6): Show 
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02647.hp2
HG02717.hp1
HG02965.hp1
HG03041.hp2
HG03486.hp2
NA20129.hp1
 intron_variant MODIFIER c.1517+11519T>C
c.1517+11519T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165817998
chr3:165818530 A
A
 C
C
 2 a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0096
a0002c0002t0002g0097
 2 NA18988.hp2
NA19068.hp2
NA18988.hp2
NA19068.hp2
 intron_variant MODIFIER c.1517+10987T>G
c.1517+10987T>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165818530
chr3:165818560 A
A
 C
C
 1 a0002c0002t0002g0060
a0002c0002t0002g0060
 1 NA18994.hp2
NA18994.hp2
 intron_variant MODIFIER c.1517+10957T>G
c.1517+10957T>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165818560
chr3:165818617 A
A
 G
G
 1 a0001c0001t0003g0092
a0001c0001t0003g0092
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.1517+10900T>C
c.1517+10900T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165818617
chr3:165818813 G
G
 A
A
 7 a0001c0001t0001g0070
a0001c0001t0001g0071
a0002c0002t0002g0054
others(4): Show 
a0001c0001t0001g0070
a0001c0001t0001g0071
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
 7 HG01346.hp1
HG02055.hp1
HG02109.hp2
others(4): Show 
HG01346.hp1
HG02055.hp1
HG02109.hp2
HG02258.hp2
HG02486.hp2
HG02572.hp2
HG02965.hp2
 intron_variant MODIFIER c.1517+10704C>T
c.1517+10704C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165818813
chr3:165819074 C
C
 CT
CT
 210 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(207): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0248
a0001c0001t0003g0006
a0001c0001t0003g0046
a0001c0001t0003g0090
a0001c0001t0003g0134
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
 263 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(260): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+10442dupA
c.1517+10442dupA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165819074
chr3:165819074 C
C
 CTT
CTT
 8 a0001c0001t0001g0149
a0001c0001t0001g0188
a0001c0001t0001g0236
others(5): Show 
a0001c0001t0001g0149
a0001c0001t0001g0188
a0001c0001t0001g0236
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0138
a0007c0008t0003g0041
 8 HG02080.hp2
HG02572.hp1
HG02735.hp2
others(5): Show 
HG02080.hp2
HG02572.hp1
HG02735.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp2
NA18906.hp1
NA19083.hp2
 intron_variant MODIFIER c.1517+10441_1517+10
others(8): Show 
c.1517+10441_1517+10442dupAA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165819074
chr3:165819224 G
G
 A
A
 49 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(46): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 59 HG00099.hp2
HG00423.hp2
HG00621.hp1
others(56): Show 
HG00099.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01934.hp1
HG01943.hp2
HG02015.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03669.hp1
HG03704.hp1
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18957.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19012.hp1
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.1517+10293C>T
c.1517+10293C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165819224
chr3:165819274 T
T
 TC
TC
 246 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(243): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0006
a0001c0001t0003g0031
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0042
a0001c0001t0003g0043
a0001c0001t0003g0046
a0001c0001t0003g0052
a0001c0001t0003g0053
a0001c0001t0003g0072
a0001c0001t0003g0075
a0001c0001t0003g0076
a0001c0001t0003g0077
a0001c0001t0003g0078
a0001c0001t0003g0079
a0001c0001t0003g0080
a0001c0001t0003g0081
a0001c0001t0003g0082
a0001c0001t0003g0083
a0001c0001t0003g0084
a0001c0001t0003g0085
a0001c0001t0003g0086
a0001c0001t0003g0087
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0090
a0001c0001t0003g0091
a0001c0001t0003g0092
a0001c0001t0003g0093
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 300 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(297): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+10242_1517+10
others(7): Show 
c.1517+10242_1517+10243insG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165819274
chr3:165819324 C
C
 T
T
 1 a0001c0001t0003g0079
a0001c0001t0003g0079
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.1517+10193G>A
c.1517+10193G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165819324
chr3:165819343 G
G
 T
T
 1 a0001c0001t0003g0084
a0001c0001t0003g0084
 1 NA18984.hp2
NA18984.hp2
 intron_variant MODIFIER c.1517+10174C>A
c.1517+10174C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165819343
chr3:165819723 T
T
 C
C
 2 a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0233
a0001c0001t0001g0234
 2 HG01167.hp2
HG01169.hp2
HG01167.hp2
HG01169.hp2
 intron_variant MODIFIER c.1517+9794A>G
c.1517+9794A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165819723
chr3:165819748 T
T
 TAGAG
TAGAG
 207 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(204): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 257 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(254): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+9768_1517+976
others(8): Show 
c.1517+9768_1517+9769insCTCT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165819748
chr3:165819949 T
T
 C
C
 2 a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0144
a0001c0001t0001g0145
 2 HG02738.hp2
NA18961.hp1
HG02738.hp2
NA18961.hp1
 intron_variant MODIFIER c.1517+9568A>G
c.1517+9568A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165819949
chr3:165820001 T
T
 TA
TA
 7 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(4): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
 9 HG02145.hp2
HG02258.hp1
HG02622.hp1
others(6): Show 
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02647.hp2
HG02717.hp1
HG02965.hp1
HG03041.hp2
HG03486.hp2
NA20129.hp1
 intron_variant MODIFIER c.1517+9515dupT
c.1517+9515dupT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165820001
chr3:165820111 A
A
 T
T
 1 a0001c0001t0003g0078
a0001c0001t0003g0078
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.1517+9406T>A
c.1517+9406T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165820111
chr3:165820202 T
T
 TG
TG
 130 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(127): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 159 HG00099.hp1
HG00140.hp1
HG00544.hp1
others(156): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1517+9314dupC
c.1517+9314dupC
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165820202
chr3:165820291 A
A
 G
G
 1 a0001c0001t0001g0201
a0001c0001t0001g0201
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.1517+9226T>C
c.1517+9226T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165820291
chr3:165820582 C
C
 T
T
 3 a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
 3 HG02970.hp2
NA19043.hp2
NA21309.hp2
HG02970.hp2
NA19043.hp2
NA21309.hp2
 intron_variant MODIFIER c.1517+8935G>A
c.1517+8935G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165820582
chr3:165820637 A
A
 G
G
 1 a0001c0001t0001g0200
a0001c0001t0001g0200
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.1517+8880T>C
c.1517+8880T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165820637
chr3:165820680 G
G
 A
A
 200 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(197): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 250 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(247): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+8837C>T
c.1517+8837C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165820680
chr3:165821037 T
T
 TA
TA
 221 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(218): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 274 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(271): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+8479dupT
c.1517+8479dupT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165821037
chr3:165821236 A
A
 T
T
 1 a0002c0002t0002g0060
a0002c0002t0002g0060
 1 NA18994.hp2
NA18994.hp2
 intron_variant MODIFIER c.1517+8281T>A
c.1517+8281T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165821236
chr3:165821267 T
T
 C
C
 4 a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
others(1): Show 
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
 5 HG01496.hp2
HG02055.hp2
HG02615.hp2
others(2): Show 
HG01496.hp2
HG02055.hp2
HG02615.hp2
HG02976.hp1
NA19043.hp1
 intron_variant MODIFIER c.1517+8250A>G
c.1517+8250A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165821267
chr3:165821334 T
T
 C
C
 78 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(75): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0005t0001g0142
a0002c0002t0002g0165
a0005c0007t0001g0186
 100 HG00099.hp1
HG00140.hp1
HG00544.hp2
others(97): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp2
HG01106.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02683.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp2
HG03239.hp1
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp2
HG06807.hp1
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp2
NA19060.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1517+8183A>G
c.1517+8183A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165821334
chr3:165821364 T
T
 C
C
 1 a0002c0002t0002g0069
a0002c0002t0002g0069
 1 NA18941.hp2
NA18941.hp2
 intron_variant MODIFIER c.1517+8153A>G
c.1517+8153A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165821364
chr3:165821658 T
T
 C
C
 2 a0001c0001t0002g0239
a0001c0001t0002g0248
a0001c0001t0002g0239
a0001c0001t0002g0248
 2 HG02280.hp2
HG03490.hp1
HG02280.hp2
HG03490.hp1
 intron_variant MODIFIER c.1517+7859A>G
c.1517+7859A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165821658
chr3:165821807 C
C
 T
T
 200 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(197): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 250 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(247): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+7710G>A
c.1517+7710G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165821807
chr3:165821822 G
G
 A
A
 200 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(197): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 250 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(247): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+7695C>T
c.1517+7695C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165821822
chr3:165821843 T
T
 G
G
 2 a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0054
a0002c0002t0002g0055
 2 HG02109.hp2
HG02572.hp2
HG02109.hp2
HG02572.hp2
 intron_variant MODIFIER c.1517+7674A>C
c.1517+7674A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165821843
chr3:165821851 C
C
 A
A
 2 a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0179
a0001c0001t0001g0180
 2 HG02040.hp2
NA19000.hp2
HG02040.hp2
NA19000.hp2
 intron_variant MODIFIER c.1517+7666G>T
c.1517+7666G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165821851
chr3:165821916 TGGTGAA
TGGTGAA
 T
T
 14 a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
others(11): Show 
a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
 17 HG00140.hp2
HG01106.hp2
HG01358.hp2
others(14): Show 
HG00140.hp2
HG01106.hp2
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02109.hp1
HG02280.hp2
HG02723.hp1
HG02886.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03490.hp1
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.1517+7595_1517+760
others(10): Show 
c.1517+7595_1517+7600delTTCACC
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165821916
chr3:165821923 A
A
 T
T
 14 a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
others(11): Show 
a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
 17 HG00140.hp2
HG01106.hp2
HG01358.hp2
others(14): Show 
HG00140.hp2
HG01106.hp2
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02109.hp1
HG02280.hp2
HG02723.hp1
HG02886.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03490.hp1
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.1517+7594T>A
c.1517+7594T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165821923
chr3:165821928 T
T
 TTCA
TTCA
 14 a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
others(11): Show 
a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
 17 HG00140.hp2
HG01106.hp2
HG01358.hp2
others(14): Show 
HG00140.hp2
HG01106.hp2
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02109.hp1
HG02280.hp2
HG02723.hp1
HG02886.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03490.hp1
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.1517+7588_1517+758
others(7): Show 
c.1517+7588_1517+7589insTGA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165821928
chr3:165821929 A
A
 G
G
 14 a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
others(11): Show 
a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
 17 HG00140.hp2
HG01106.hp2
HG01358.hp2
others(14): Show 
HG00140.hp2
HG01106.hp2
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02109.hp1
HG02280.hp2
HG02723.hp1
HG02886.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03490.hp1
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.1517+7588T>C
c.1517+7588T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165821929
chr3:165821933 A
A
 ACTTG
ACTTG
 14 a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
others(11): Show 
a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
 17 HG00140.hp2
HG01106.hp2
HG01358.hp2
others(14): Show 
HG00140.hp2
HG01106.hp2
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02109.hp1
HG02280.hp2
HG02723.hp1
HG02886.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03490.hp1
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.1517+7583_1517+758
others(8): Show 
c.1517+7583_1517+7584insCAAG
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165821933
chr3:165821934 T
T
 A
A
 14 a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
others(11): Show 
a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0010g0249
 17 HG00140.hp2
HG01106.hp2
HG01358.hp2
others(14): Show 
HG00140.hp2
HG01106.hp2
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02109.hp1
HG02280.hp2
HG02723.hp1
HG02886.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03490.hp1
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.1517+7583A>T
c.1517+7583A>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165821934
chr3:165822059 C
C
 T
T
 1 a0002c0002t0008g0119
a0002c0002t0008g0119
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1517+7458G>A
c.1517+7458G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165822059
chr3:165822154 A
A
 T
T
 35 a0001c0001t0001g0058
a0001c0001t0001g0059
a0002c0002t0002g0004
others(32): Show 
a0001c0001t0001g0058
a0001c0001t0001g0059
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0009g0103
a0006c0006t0002g0094
 39 HG00544.hp1
HG00609.hp2
HG00621.hp2
others(36): Show 
HG00544.hp1
HG00609.hp2
HG00621.hp2
HG01074.hp1
HG01167.hp1
HG01978.hp2
HG02040.hp1
HG02056.hp2
HG02165.hp1
HG02602.hp1
HG02683.hp2
HG03239.hp2
HG03927.hp1
NA18941.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp2
NA18955.hp2
NA18956.hp1
NA18961.hp2
NA18962.hp1
NA18965.hp1
NA18968.hp1
NA18975.hp1
NA18978.hp1
NA18982.hp1
NA18985.hp1
NA18988.hp2
NA18994.hp2
NA18998.hp1
NA19002.hp2
NA19058.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp2
NA19068.hp2
NA19081.hp2
NA19085.hp1
 intron_variant MODIFIER c.1517+7363T>A
c.1517+7363T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165822154
chr3:165822466 G
G
 C
C
 1 a0001c0001t0001g0229
a0001c0001t0001g0229
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.1517+7051C>G
c.1517+7051C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165822466
chr3:165822708 A
A
 T
T
 2 a0001c0001t0002g0030
a0001c0001t0002g0240
a0001c0001t0002g0030
a0001c0001t0002g0240
 3 HG01891.hp1
HG03041.hp1
HG03209.hp2
HG01891.hp1
HG03041.hp1
HG03209.hp2
 intron_variant MODIFIER c.1517+6809T>A
c.1517+6809T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165822708
chr3:165823012 T
T
 C
C
 1 a0001c0001t0002g0117
a0001c0001t0002g0117
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.1517+6505A>G
c.1517+6505A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165823012
chr3:165823255 T
T
 G
G
 1 a0001c0001t0001g0193
a0001c0001t0001g0193
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1517+6262A>C
c.1517+6262A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165823255
chr3:165823287 A
A
 G
G
 1 a0001c0001t0003g0083
a0001c0001t0003g0083
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.1517+6230T>C
c.1517+6230T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165823287
chr3:165823550 A
A
 C
C
 1 a0001c0001t0002g0239
a0001c0001t0002g0239
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.1517+5967T>G
c.1517+5967T>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165823550
chr3:165823607 C
C
 T
T
 5 a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
others(2): Show 
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 11 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(8): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+5910G>A
c.1517+5910G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165823607
chr3:165823618 T
T
 C
C
 2 a0001c0001t0001g0023
a0001c0001t0001g0181
a0001c0001t0001g0023
a0001c0001t0001g0181
 3 HG02015.hp2
NA18945.hp1
NA18998.hp2
HG02015.hp2
NA18945.hp1
NA18998.hp2
 intron_variant MODIFIER c.1517+5899A>G
c.1517+5899A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165823618
chr3:165823803 A
A
 G
G
 200 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(197): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 250 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(247): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+5714T>C
c.1517+5714T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165823803
chr3:165823819 C
C
 A
A
 200 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(197): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 250 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(247): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+5698G>T
c.1517+5698G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165823819
chr3:165823934 CT
CT
 C
C
 166 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(163): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0042
a0001c0001t0003g0043
a0001c0001t0003g0046
a0001c0001t0003g0078
a0001c0001t0003g0079
a0001c0001t0003g0080
a0001c0001t0003g0081
a0001c0001t0003g0082
a0001c0001t0003g0090
a0001c0001t0003g0091
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0007c0008t0003g0041
 211 HG00099.hp1
HG00140.hp1
HG00423.hp1
others(208): Show 
HG00099.hp1
HG00140.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18950.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19086.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+5582delA
c.1517+5582delA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165823934
chr3:165823934 CTT
CTT
 C
C
 45 a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
others(42): Show 
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0195
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0002g0117
a0001c0001t0003g0072
a0001c0001t0003g0083
a0001c0001t0003g0084
a0001c0001t0003g0085
a0001c0001t0003g0086
a0001c0001t0003g0087
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0009g0103
a0006c0006t0002g0094
 49 HG00099.hp2
HG00544.hp1
HG00609.hp2
others(46): Show 
HG00099.hp2
HG00544.hp1
HG00609.hp2
HG00621.hp2
HG01978.hp2
HG02040.hp1
HG02056.hp2
HG02165.hp1
HG02451.hp1
HG02602.hp1
HG02683.hp2
HG02896.hp2
HG03239.hp2
HG03927.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp2
NA18952.hp1
NA18955.hp2
NA18956.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18965.hp1
NA18968.hp1
NA18975.hp1
NA18978.hp1
NA18982.hp1
NA18983.hp1
NA18984.hp2
NA18985.hp1
NA18988.hp1
NA18988.hp2
NA18994.hp2
NA18998.hp1
NA19002.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp2
NA19068.hp2
NA19077.hp1
NA19085.hp1
NA19085.hp2
 intron_variant MODIFIER c.1517+5581_1517+558
others(6): Show 
c.1517+5581_1517+5582delAA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165823934
chr3:165824168 T
T
 A
A
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.1517+5349A>T
c.1517+5349A>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165824168
chr3:165824225 T
T
 C
C
 1 a0002c0002t0002g0069
a0002c0002t0002g0069
 1 NA18941.hp2
NA18941.hp2
 intron_variant MODIFIER c.1517+5292A>G
c.1517+5292A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165824225
chr3:165824336 A
A
 C
C
 1 a0001c0001t0002g0238
a0001c0001t0002g0238
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1517+5181T>G
c.1517+5181T>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165824336
chr3:165824419 A
A
 G
G
 1 a0001c0001t0003g0038
a0001c0001t0003g0038
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.1517+5098T>C
c.1517+5098T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165824419
chr3:165824426 G
G
 T
T
 1 a0001c0001t0003g0031
a0001c0001t0003g0031
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.1517+5091C>A
c.1517+5091C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165824426
chr3:165824465 T
T
 G
G
 207 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(204): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 257 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(254): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+5052A>C
c.1517+5052A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165824465
chr3:165824566 A
A
 C
C
 35 a0001c0001t0001g0058
a0001c0001t0001g0059
a0002c0002t0002g0004
others(32): Show 
a0001c0001t0001g0058
a0001c0001t0001g0059
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0009g0103
a0006c0006t0002g0094
 39 HG00544.hp1
HG00609.hp2
HG00621.hp2
others(36): Show 
HG00544.hp1
HG00609.hp2
HG00621.hp2
HG01074.hp1
HG01167.hp1
HG01978.hp2
HG02040.hp1
HG02056.hp2
HG02165.hp1
HG02602.hp1
HG02683.hp2
HG03239.hp2
HG03927.hp1
NA18941.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp2
NA18955.hp2
NA18956.hp1
NA18961.hp2
NA18962.hp1
NA18965.hp1
NA18968.hp1
NA18975.hp1
NA18978.hp1
NA18982.hp1
NA18985.hp1
NA18988.hp2
NA18994.hp2
NA18998.hp1
NA19002.hp2
NA19058.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp2
NA19068.hp2
NA19081.hp2
NA19085.hp1
 intron_variant MODIFIER c.1517+4951T>G
c.1517+4951T>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165824566
chr3:165824568 C
C
 T
T
 2 a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0146
a0001c0001t0001g0147
 2 NA18975.hp2
NA18999.hp1
NA18975.hp2
NA18999.hp1
 intron_variant MODIFIER c.1517+4949G>A
c.1517+4949G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165824568
chr3:165824642 C
C
 T
T
 49 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(46): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 59 HG00099.hp2
HG00423.hp2
HG00621.hp1
others(56): Show 
HG00099.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01934.hp1
HG01943.hp2
HG02015.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03669.hp1
HG03704.hp1
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18957.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19012.hp1
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.1517+4875G>A
c.1517+4875G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165824642
chr3:165824667 C
C
 A
A
 2 a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0054
a0002c0002t0002g0055
 2 HG02109.hp2
HG02572.hp2
HG02109.hp2
HG02572.hp2
 intron_variant MODIFIER c.1517+4850G>T
c.1517+4850G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165824667
chr3:165825285 A
A
 G
G
 1 a0001c0001t0001g0197
a0001c0001t0001g0197
 1 NA19081.hp1
NA19081.hp1
 intron_variant MODIFIER c.1517+4232T>C
c.1517+4232T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165825285
chr3:165825341 TA
TA
 T
T
 222 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(219): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0006
a0001c0001t0003g0031
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 276 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(273): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+4175delT
c.1517+4175delT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165825341
chr3:165825632 G
G
 A
A
 1 a0001c0001t0003g0031
a0001c0001t0003g0031
 2 HG01255.hp1
HG03540.hp1
HG01255.hp1
HG03540.hp1
 intron_variant MODIFIER c.1517+3885C>T
c.1517+3885C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165825632
chr3:165825700 C
C
 T
T
 2 a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0144
a0001c0001t0001g0145
 2 HG02738.hp2
NA18961.hp1
HG02738.hp2
NA18961.hp1
 intron_variant MODIFIER c.1517+3817G>A
c.1517+3817G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165825700
chr3:165825806 T
T
 A
A
 2 a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0088
a0001c0001t0003g0089
 2 HG02280.hp1
HG03225.hp1
HG02280.hp1
HG03225.hp1
 intron_variant MODIFIER c.1517+3711A>T
c.1517+3711A>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165825806
chr3:165825921 T
T
 G
G
 221 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(218): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 274 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(271): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+3596A>C
c.1517+3596A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165825921
chr3:165826110 A
A
 T
T
 2 a0001c0001t0002g0019
a0001c0001t0002g0118
a0001c0001t0002g0019
a0001c0001t0002g0118
 3 HG02615.hp1
HG02647.hp1
HG03098.hp1
HG02615.hp1
HG02647.hp1
HG03098.hp1
 intron_variant MODIFIER c.1517+3407T>A
c.1517+3407T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165826110
chr3:165826514 G
G
 C
C
 91 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(88): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0165
a0005c0007t0001g0186
a0007c0008t0003g0041
 115 HG00099.hp1
HG00140.hp1
HG00544.hp2
others(112): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp2
HG01106.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp2
HG02683.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG03195.hp2
HG03239.hp1
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp2
NA19043.hp2
NA19060.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19240.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1517+3003C>G
c.1517+3003C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165826514
chr3:165826601 T
T
 C
C
 5 a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
others(2): Show 
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 11 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(8): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+2916A>G
c.1517+2916A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165826601
chr3:165826701 A
A
 G
G
 221 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(218): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0012
a0001c0001t0002g0019
a0001c0001t0002g0030
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0001t0010g0249
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 274 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(271): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+2816T>C
c.1517+2816T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165826701
chr3:165826886 A
A
 G
G
 8 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(5): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0003g0046
 10 HG02145.hp2
HG02258.hp1
HG02622.hp1
others(7): Show 
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02717.hp1
HG02965.hp1
HG03041.hp2
HG03486.hp2
NA20129.hp1
 intron_variant MODIFIER c.1517+2631T>C
c.1517+2631T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165826886
chr3:165826942 A
A
 G
G
 3 a0002c0002t0002g0015
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0015
a0002c0002t0002g0056
a0002c0002t0002g0057
 4 NA18946.hp1
NA18962.hp1
NA19002.hp2
others(1): Show 
NA18946.hp1
NA18962.hp1
NA19002.hp2
NA19065.hp2
 intron_variant MODIFIER c.1517+2575T>C
c.1517+2575T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165826942
chr3:165827121 C
C
 T
T
 3 a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
 3 HG00609.hp1
HG02155.hp1
NA19240.hp2
HG00609.hp1
HG02155.hp1
NA19240.hp2
 intron_variant MODIFIER c.1517+2396G>A
c.1517+2396G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165827121
chr3:165827157 G
G
 A
A
 1 a0004c0004t0004g0032
a0004c0004t0004g0032
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.1517+2360C>T
c.1517+2360C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165827157
chr3:165827223 C
C
 T
T
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG02293.hp2
HG02293.hp2
 intron_variant MODIFIER c.1517+2294G>A
c.1517+2294G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165827223
chr3:165827267 C
C
 T
T
 7 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(4): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
 9 HG02145.hp2
HG02258.hp1
HG02622.hp1
others(6): Show 
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02647.hp2
HG02717.hp1
HG02965.hp1
HG03041.hp2
HG03486.hp2
NA20129.hp1
 intron_variant MODIFIER c.1517+2250G>A
c.1517+2250G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165827267
chr3:165827363 T
T
 C
C
 1 a0001c0001t0001g0071
a0001c0001t0001g0071
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.1517+2154A>G
c.1517+2154A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165827363
chr3:165827397 A
A
 C
C
 9 a0001c0001t0001g0113
a0001c0001t0002g0005
a0001c0001t0002g0019
others(6): Show 
a0001c0001t0001g0113
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
 12 HG02451.hp1
HG02615.hp1
HG02647.hp1
others(9): Show 
HG02451.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG03098.hp1
HG03516.hp2
NA18522.hp1
NA19030.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.1517+2120T>G
c.1517+2120T>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165827397
chr3:165827608 CA
CA
 C
C
 4 a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
others(1): Show 
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
 4 HG02451.hp1
HG02717.hp2
HG02818.hp1
others(1): Show 
HG02451.hp1
HG02717.hp2
HG02818.hp1
NA20300.hp1
 intron_variant MODIFIER c.1517+1908delT
c.1517+1908delT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165827608
chr3:165827691 A
A
 G
G
 3 a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
 3 HG02055.hp1
HG02258.hp2
HG02965.hp2
HG02055.hp1
HG02258.hp2
HG02965.hp2
 intron_variant MODIFIER c.1517+1826T>C
c.1517+1826T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165827691
chr3:165827759 C
C
 T
T
 1 a0001c0001t0001g0124
a0001c0001t0001g0124
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1517+1758G>A
c.1517+1758G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165827759
chr3:165827891 A
A
 G
G
 1 a0001c0001t0001g0197
a0001c0001t0001g0197
 1 NA19081.hp1
NA19081.hp1
 intron_variant MODIFIER c.1517+1626T>C
c.1517+1626T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165827891
chr3:165827981 C
C
 T
T
 1 a0001c0001t0003g0072
a0001c0001t0003g0072
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.1517+1536G>A
c.1517+1536G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165827981
chr3:165828042 G
G
 A
A
 1 a0001c0001t0001g0133
a0001c0001t0001g0133
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.1517+1475C>T
c.1517+1475C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165828042
chr3:165828242 T
T
 A
A
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.1517+1275A>T
c.1517+1275A>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165828242
chr3:165828495 G
G
 T
T
 1 a0001c0001t0001g0196
a0001c0001t0001g0196
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.1517+1022C>A
c.1517+1022C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165828495
chr3:165828731 AG
AG
 A
A
 9 a0001c0001t0001g0113
a0001c0001t0002g0005
a0001c0001t0002g0019
others(6): Show 
a0001c0001t0001g0113
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
 12 HG02451.hp1
HG02615.hp1
HG02647.hp1
others(9): Show 
HG02451.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG03098.hp1
HG03516.hp2
NA18522.hp1
NA19030.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.1517+785delC
c.1517+785delC
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165828731
chr3:165828928 A
A
 C
C
 207 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(204): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0004
a0002c0002t0002g0015
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0002g0063
a0002c0002t0002g0064
a0002c0002t0002g0065
a0002c0002t0002g0066
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0002g0110
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0002c0002t0009g0103
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0006c0006t0002g0094
a0007c0008t0003g0041
 257 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(254): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+589T>G
c.1517+589T>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165828928
chr3:165828974 C
C
 T
T
 1 a0001c0001t0001g0143
a0001c0001t0001g0143
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.1517+543G>A
c.1517+543G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165828974
chr3:165829179 T
T
 G
G
 1 a0002c0002t0002g0108
a0002c0002t0002g0108
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.1517+338A>C
c.1517+338A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165829179
chr3:165829420 C
C
 A
A
 4 a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
others(1): Show 
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0006c0006t0002g0094
 4 NA18968.hp1
NA18982.hp1
NA18985.hp1
others(1): Show 
NA18968.hp1
NA18982.hp1
NA18985.hp1
NA19085.hp1
 intron_variant MODIFIER c.1517+97G>T
c.1517+97G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165829420
chr3:165829434 T
T
 C
C
 2 a0001c0001t0003g0090
a0001c0001t0003g0091
a0001c0001t0003g0090
a0001c0001t0003g0091
 2 NA18950.hp1
NA19080.hp1
NA18950.hp1
NA19080.hp1
 intron_variant MODIFIER c.1517+83A>G
c.1517+83A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 2/3 chr3 165829434
chr3:165831214 A
A
 G
G
 8 a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
others(5): Show 
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
 11 HG02451.hp1
HG02615.hp1
HG02647.hp1
others(8): Show 
HG02451.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG03098.hp1
HG03516.hp2
NA18522.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.-8-173T>C
c.-8-173T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165831214
chr3:165831312 T
T
 C
C
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 2 NA18952.hp2
NA19070.hp1
NA18952.hp2
NA19070.hp1
 intron_variant MODIFIER c.-8-271A>G
c.-8-271A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165831312
chr3:165831591 T
T
 G
G
 7 a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0114
others(4): Show 
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
 10 HG02451.hp1
HG02615.hp1
HG02647.hp1
others(7): Show 
HG02451.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG03098.hp1
HG03516.hp2
NA18522.hp1
NA20300.hp1
 intron_variant MODIFIER c.-8-550A>C
c.-8-550A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165831591
chr3:165831890 A
A
 T
T
 2 a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0054
a0002c0002t0002g0055
 2 HG02109.hp2
HG02572.hp2
HG02109.hp2
HG02572.hp2
 intron_variant MODIFIER c.-8-849T>A
c.-8-849T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165831890
chr3:165831973 G
G
 T
T
 4 a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0194
others(1): Show 
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0194
a0001c0001t0001g0195
 6 HG00099.hp2
HG00639.hp1
HG00642.hp1
others(3): Show 
HG00099.hp2
HG00639.hp1
HG00642.hp1
HG01257.hp2
HG01258.hp1
HG03669.hp1
 intron_variant MODIFIER c.-8-932C>A
c.-8-932C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165831973
chr3:165832057 C
C
 A
A
 1 a0001c0001t0002g0248
a0001c0001t0002g0248
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.-8-1016G>T
c.-8-1016G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165832057
chr3:165832178 T
T
 C
C
 1 a0001c0001t0001g0187
a0001c0001t0001g0187
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.-8-1137A>G
c.-8-1137A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165832178
chr3:165832248 C
C
 G
G
 94 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(91): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0165
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0005c0007t0001g0186
a0007c0008t0003g0041
 119 HG00099.hp1
HG00140.hp1
HG00544.hp2
others(116): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp2
HG01106.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02683.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-8-1207G>C
c.-8-1207G>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165832248
chr3:165832595 G
G
 A
A
 165 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(162): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0007c0008t0003g0041
 211 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(208): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp2
HG01106.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-8-1554C>T
c.-8-1554C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165832595
chr3:165832677 A
A
 T
T
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.-8-1636T>A
c.-8-1636T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165832677
chr3:165832834 T
T
 C
C
 13 a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
others(10): Show 
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0007c0008t0003g0041
 15 HG02559.hp2
HG02572.hp1
HG02622.hp2
others(12): Show 
HG02559.hp2
HG02572.hp1
HG02622.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02970.hp1
HG02970.hp2
HG03195.hp2
HG03209.hp1
NA18522.hp2
NA18906.hp1
NA19043.hp2
NA21309.hp2
 intron_variant MODIFIER c.-8-1793A>G
c.-8-1793A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165832834
chr3:165833004 G
G
 A
A
 5 a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
others(2): Show 
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 11 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(8): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-8-1963C>T
c.-8-1963C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165833004
chr3:165833188 A
A
 G
G
 1 a0002c0002t0002g0004
a0002c0002t0002g0004
 3 NA18944.hp2
NA18945.hp2
NA19058.hp2
NA18944.hp2
NA18945.hp2
NA19058.hp2
 intron_variant MODIFIER c.-8-2147T>C
c.-8-2147T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165833188
chr3:165833230 T
T
 C
C
 7 a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
others(4): Show 
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0235
 7 HG00738.hp1
HG01192.hp1
HG01255.hp2
others(4): Show 
HG00738.hp1
HG01192.hp1
HG01255.hp2
HG02735.hp2
HG03654.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.-8-2189A>G
c.-8-2189A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165833230
chr3:165833296 T
T
 C
C
 68 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(65): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0005t0001g0142
a0002c0002t0002g0165
a0005c0007t0001g0186
 90 HG00099.hp1
HG00544.hp2
HG00609.hp1
others(87): Show 
HG00099.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02523.hp2
HG02559.hp1
HG02735.hp2
HG02738.hp2
HG02896.hp2
HG03239.hp1
HG03490.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp2
HG06807.hp1
NA18747.hp1
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18968.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp2
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp2
NA18991.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp2
NA19060.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.-8-2255A>G
c.-8-2255A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165833296
chr3:165833355 C
C
 T
T
 2 a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0122
a0001c0001t0001g0123
 2 HG00609.hp1
HG02155.hp1
HG00609.hp1
HG02155.hp1
 intron_variant MODIFIER c.-8-2314G>A
c.-8-2314G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165833355
chr3:165833366 A
A
 G
G
 4 a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
others(1): Show 
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
 5 HG01496.hp2
HG02055.hp2
HG02615.hp2
others(2): Show 
HG01496.hp2
HG02055.hp2
HG02615.hp2
HG02976.hp1
NA19043.hp1
 intron_variant MODIFIER c.-8-2325T>C
c.-8-2325T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165833366
chr3:165833453 T
T
 C
C
 49 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(46): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 59 HG00099.hp2
HG00423.hp2
HG00621.hp1
others(56): Show 
HG00099.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01934.hp1
HG01943.hp2
HG02015.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03669.hp1
HG03704.hp1
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18957.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19012.hp1
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.-8-2412A>G
c.-8-2412A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165833453
chr3:165833472 G
G
 A
A
 1 a0002c0002t0002g0109
a0002c0002t0002g0109
 1 HG02056.hp2
HG02056.hp2
 intron_variant MODIFIER c.-8-2431C>T
c.-8-2431C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165833472
chr3:165833489 G
G
 A
A
 49 a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
others(46): Show 
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0044
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
 59 HG00099.hp2
HG00423.hp2
HG00621.hp1
others(56): Show 
HG00099.hp2
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01934.hp1
HG01943.hp2
HG02015.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03669.hp1
HG03704.hp1
NA18747.hp2
NA18906.hp2
NA18952.hp1
NA18957.hp1
NA18960.hp1
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18978.hp2
NA18982.hp2
NA18989.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp2
NA19012.hp1
NA19062.hp1
NA19064.hp1
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.-8-2448C>T
c.-8-2448C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165833489
chr3:165833736 C
C
 A
A
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 2 NA18973.hp1
NA18993.hp1
NA18973.hp1
NA18993.hp1
 intron_variant MODIFIER c.-8-2695G>T
c.-8-2695G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165833736
chr3:165833776 G
G
 A
A
 1 a0001c0001t0003g0092
a0001c0001t0003g0092
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.-8-2735C>T
c.-8-2735C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165833776
chr3:165833785 AT
AT
 A
A
 148 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(145): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0003c0003t0005g0237
a0004c0004t0004g0032
a0005c0007t0001g0186
a0007c0008t0003g0041
 189 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(186): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp2
HG01106.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02683.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03490.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-8-2745delA
c.-8-2745delA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165833785
chr3:165833828 A
A
 G
G
 1 a0001c0001t0003g0053
a0001c0001t0003g0053
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.-8-2787T>C
c.-8-2787T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165833828
chr3:165833861 C
C
 A
A
 5 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0232
others(2): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
 9 HG01167.hp2
HG01169.hp2
HG02145.hp1
others(6): Show 
HG01167.hp2
HG01169.hp2
HG02145.hp1
HG02896.hp1
HG02897.hp1
HG03098.hp2
HG03130.hp2
NA18906.hp2
NA19240.hp1
 intron_variant MODIFIER c.-8-2820G>T
c.-8-2820G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165833861
chr3:165833961 A
A
 C
C
 2 a0003c0003t0005g0111
a0003c0003t0005g0237
a0003c0003t0005g0111
a0003c0003t0005g0237
 2 HG02055.hp2
NA19043.hp1
HG02055.hp2
NA19043.hp1
 intron_variant MODIFIER c.-8-2920T>G
c.-8-2920T>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165833961
chr3:165834140 T
T
 C
C
 8 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(5): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0003g0046
 10 HG02145.hp2
HG02258.hp1
HG02622.hp1
others(7): Show 
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02717.hp1
HG02965.hp1
HG03041.hp2
HG03486.hp2
NA20129.hp1
 intron_variant MODIFIER c.-8-3099A>G
c.-8-3099A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165834140
chr3:165834172 A
A
 G
G
 1 a0001c0001t0003g0052
a0001c0001t0003g0052
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.-8-3131T>C
c.-8-3131T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165834172
chr3:165834213 CACTTA
CACTTA
 C
C
 158 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(155): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0004c0004t0004g0032
a0005c0007t0001g0186
a0007c0008t0003g0041
 201 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(198): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp2
HG01106.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-9+3096_-9+3100del
others(5): Show 
c.-9+3096_-9+3100delTAAGT
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165834213
chr3:165834581 C
C
 T
T
 5 a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
others(2): Show 
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 11 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(8): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-9+2733G>A
c.-9+2733G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165834581
chr3:165834674 T
T
 C
C
 1 a0001c0001t0003g0093
a0001c0001t0003g0093
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-9+2640A>G
c.-9+2640A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165834674
chr3:165834724 T
T
 G
G
 167 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(164): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0004c0004t0004g0032
a0005c0007t0001g0186
a0007c0008t0003g0041
 213 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(210): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp2
HG01106.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-9+2590A>C
c.-9+2590A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165834724
chr3:165835028 G
G
 C
C
 19 a0002c0002t0002g0004
a0002c0002t0002g0017
a0002c0002t0002g0035
others(16): Show 
a0002c0002t0002g0004
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0095
a0002c0002t0002g0096
a0002c0002t0002g0097
a0002c0002t0002g0098
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0101
a0002c0002t0002g0102
a0002c0002t0002g0104
a0002c0002t0002g0105
a0002c0002t0002g0106
a0002c0002t0002g0107
a0002c0002t0002g0108
a0002c0002t0002g0109
a0002c0002t0009g0103
a0006c0006t0002g0094
 22 HG00621.hp2
HG02040.hp1
HG02056.hp2
others(19): Show 
HG00621.hp2
HG02040.hp1
HG02056.hp2
HG02165.hp1
NA18944.hp2
NA18945.hp2
NA18950.hp2
NA18955.hp2
NA18956.hp1
NA18961.hp2
NA18965.hp1
NA18968.hp1
NA18978.hp1
NA18982.hp1
NA18985.hp1
NA18988.hp2
NA18998.hp1
NA19058.hp2
NA19064.hp2
NA19068.hp2
NA19081.hp2
NA19085.hp1
 intron_variant MODIFIER c.-9+2286C>G
c.-9+2286C>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165835028
chr3:165835049 C
C
 A
A
 12 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(9): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 20 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(17): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02145.hp2
HG02258.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp1
HG02965.hp1
HG03041.hp2
HG03486.hp2
HG03540.hp2
HG03654.hp2
HG03927.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-9+2265G>T
c.-9+2265G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165835049
chr3:165835177 A
A
 T
T
 5 a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
others(2): Show 
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 11 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(8): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-9+2137T>A
c.-9+2137T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165835177
chr3:165835196 C
C
 CTT
CTT
 167 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(164): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0004c0004t0004g0032
a0005c0007t0001g0186
a0007c0008t0003g0041
 213 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(210): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp2
HG01106.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-9+2116_-9+2117dup
others(2): Show 
c.-9+2116_-9+2117dupAA
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165835196
chr3:165835395 G
G
 A
A
 1 a0002c0002t0002g0110
a0002c0002t0002g0110
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.-9+1919C>T
c.-9+1919C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165835395
chr3:165835486 C
C
 T
T
 167 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(164): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0004c0004t0004g0032
a0005c0007t0001g0186
a0007c0008t0003g0041
 213 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(210): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp2
HG01106.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-9+1828G>A
c.-9+1828G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165835486
chr3:165835530 A
A
 G
G
 167 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(164): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0004c0004t0004g0032
a0005c0007t0001g0186
a0007c0008t0003g0041
 213 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(210): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp2
HG01106.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-9+1784T>C
c.-9+1784T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165835530
chr3:165835546 T
T
 G
G
 167 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(164): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0004c0004t0004g0032
a0005c0007t0001g0186
a0007c0008t0003g0041
 213 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(210): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp2
HG01106.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-9+1768A>C
c.-9+1768A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165835546
chr3:165835755 T
T
 C
C
 1 a0001c0001t0001g0235
a0001c0001t0001g0235
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.-9+1559A>G
c.-9+1559A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165835755
chr3:165835799 G
G
 T
T
 167 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(164): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0004c0004t0004g0032
a0005c0007t0001g0186
a0007c0008t0003g0041
 213 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(210): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp2
HG01106.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-9+1515C>A
c.-9+1515C>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165835799
chr3:165835858 C
C
 T
T
 167 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(164): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0004c0004t0004g0032
a0005c0007t0001g0186
a0007c0008t0003g0041
 213 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(210): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp2
HG01106.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-9+1456G>A
c.-9+1456G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165835858
chr3:165835876 A
A
 T
T
 167 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(164): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0004c0004t0004g0032
a0005c0007t0001g0186
a0007c0008t0003g0041
 213 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(210): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp2
HG01106.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-9+1438T>A
c.-9+1438T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165835876
chr3:165835950 T
T
 C
C
 8 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(5): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0003g0046
 10 HG02145.hp2
HG02258.hp1
HG02622.hp1
others(7): Show 
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02717.hp1
HG02965.hp1
HG03041.hp2
HG03486.hp2
NA20129.hp1
 intron_variant MODIFIER c.-9+1364A>G
c.-9+1364A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165835950
chr3:165836072 A
A
 G
G
 167 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(164): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0004c0004t0004g0032
a0005c0007t0001g0186
a0007c0008t0003g0041
 213 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(210): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp2
HG01106.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-9+1242T>C
c.-9+1242T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165836072
chr3:165836077 G
G
 A
A
 1 a0001c0001t0010g0249
a0001c0001t0010g0249
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.-9+1237C>T
c.-9+1237C>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165836077
chr3:165836106 T
T
 A
A
 167 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(164): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0113
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0002g0005
a0001c0001t0002g0019
a0001c0001t0002g0045
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0046
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0165
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0003c0003t0005g0018
a0003c0003t0005g0111
a0003c0003t0005g0112
a0004c0004t0004g0032
a0005c0007t0001g0186
a0007c0008t0003g0041
 213 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(210): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp2
HG01106.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-9+1208A>T
c.-9+1208A>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165836106
chr3:165836148 C
C
 A
A
 142 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(139): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0044
a0001c0001t0001g0122
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0129
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0003g0006
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0140
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0226
a0001c0001t0006g0227
a0001c0001t0006g0228
a0001c0001t0007g0135
a0001c0001t0007g0136
a0001c0001t0007g0137
a0001c0005t0001g0142
a0002c0002t0002g0165
a0002c0002t0008g0119
a0002c0002t0008g0120
a0002c0002t0008g0121
a0005c0007t0001g0186
a0007c0008t0003g0041
 176 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(173): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp2
HG01106.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02683.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03490.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19012.hp1
NA19012.hp2
NA19043.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-9+1166G>T
c.-9+1166G>T
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165836148
chr3:165836387 T
T
 G
G
 1 a0001c0001t0001g0236
a0001c0001t0001g0236
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.-9+927A>C
c.-9+927A>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165836387
chr3:165836433 A
A
 G
G
 24 a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
others(21): Show 
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0031
a0001c0001t0003g0046
a0001c0001t0010g0249
a0003c0003t0005g0237
 30 HG00140.hp2
HG01106.hp2
HG01255.hp1
others(27): Show 
HG00140.hp2
HG01106.hp2
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp2
HG02258.hp1
HG02280.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02886.hp1
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03486.hp2
HG03490.hp1
HG03540.hp1
HG06807.hp2
NA19030.hp2
NA20129.hp1
 intron_variant MODIFIER c.-9+881T>C
c.-9+881T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165836433
chr3:165836530 A
A
 G
G
 1 a0001c0001t0002g0045
a0001c0001t0002g0045
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.-9+784T>C
c.-9+784T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165836530
chr3:165836740 A
A
 C
C
 6 a0001c0001t0001g0044
a0002c0002t0004g0002
a0002c0002t0004g0003
others(3): Show 
a0001c0001t0001g0044
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 12 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(9): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02129.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-9+574T>G
c.-9+574T>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165836740
chr3:165836779 T
T
 C
C
 16 a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
others(13): Show 
a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0238
a0001c0001t0002g0239
a0001c0001t0002g0240
a0001c0001t0002g0241
a0001c0001t0002g0242
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0246
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0003g0031
a0001c0001t0010g0249
a0003c0003t0005g0237
 20 HG00140.hp2
HG01106.hp2
HG01255.hp1
others(17): Show 
HG00140.hp2
HG01106.hp2
HG01255.hp1
HG01358.hp2
HG01361.hp2
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02280.hp2
HG02723.hp1
HG02886.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03490.hp1
HG03540.hp1
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.-9+535A>G
c.-9+535A>G
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165836779
chr3:165836937 A
A
 T
T
 2 a0001c0001t0003g0042
a0001c0001t0003g0043
a0001c0001t0003g0042
a0001c0001t0003g0043
 2 NA18993.hp2
NA19062.hp2
NA18993.hp2
NA19062.hp2
 intron_variant MODIFIER c.-9+377T>A
c.-9+377T>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165836937
chr3:165836946 A
A
 G
G
 4 a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
others(1): Show 
a0001c0001t0003g0038
a0001c0001t0003g0039
a0001c0001t0003g0040
a0007c0008t0003g0041
 4 HG02572.hp1
HG02809.hp2
HG02886.hp2
others(1): Show 
HG02572.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
 intron_variant MODIFIER c.-9+368T>C
c.-9+368T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165836946
chr3:165836974 A
A
 G
G
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.-9+340T>C
c.-9+340T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165836974
chr3:165837050 A
A
 G
G
 5 a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
others(2): Show 
a0002c0002t0004g0002
a0002c0002t0004g0003
a0002c0002t0004g0033
a0002c0002t0004g0034
a0004c0004t0004g0032
 11 HG01256.hp1
HG01258.hp2
HG01517.hp2
others(8): Show 
HG01256.hp1
HG01258.hp2
HG01517.hp2
HG01934.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03540.hp2
HG03654.hp2
HG03927.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-9+264T>C
c.-9+264T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165837050
chr3:165837100 A
A
 G
G
 1 a0001c0001t0001g0036
a0001c0001t0001g0036
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.-9+214T>C
c.-9+214T>C
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165837100
chr3:165837165 C
C
 T
T
 1 a0002c0002t0002g0035
a0002c0002t0002g0035
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.-9+149G>A
c.-9+149G>A
BCHE ENSG00000114200.10 transcript ENST00000264381.8 protein_coding 1/3 chr3 165837165

  • 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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