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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   EFCAB12_chr3_129396321_129433636  EFCAB12_chr3_129396321_129433636 (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 90288
ensemblid ENSG00000172771.13
hgncid 28061
symbol EFCAB12
name EF-hand calcium binding domain 12
refseq_nuc NM_207307.3
refseq_prot NP_997190.1
ensembl_nuc ENST00000505956.6
ensembl_prot ENSP00000420854.1
mane_status MANE Select
chr chr3
start 129401321
end 129428636
strand -
ver v1.2
region chr3:129401321-129428636
region5000 chr3:129396321-129433636
regionname0 EFCAB12_chr3_129401321_129428636
regionname5000 EFCAB12_chr3_129396321_129433636

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/0 572 177 31 44 62 13 26 48 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0002 0/0 572 91 12 13 61 0 5 43 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0003 0/0 572 32 2 2 27 0 1 19 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0004 0/1 572 23 7 6 3 2 4 1 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0005 0/0 572 16 7 1 3 0 5 1 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0006 0/0 572 15 11 4 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0007 0/0 572 6 0 4 0 1 1 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0008 0/0 572 6 6 0 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0009 0/0 572 5 4 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0010 0/0 572 4 4 0 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0011 0/0 572 2 2 0 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0012 0/0 572 2 2 0 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0013 0/0 572 2 2 0 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0014 0/0 572 1 0 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0015 0/0 572 1 1 0 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0016 0/0 572 1 0 0 1 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0017 0/0 572 1 1 0 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0018 0/0 572 1 0 0 1 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/0 1719 165 25 40 61 12 26 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
c0002 0/0 1719 90 12 12 61 0 5 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
c0003 0/0 1719 32 2 2 27 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
c0004 0/1 1719 23 7 6 3 2 4 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
c0005 0/0 1719 15 11 4 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
c0006 0/0 1719 14 7 1 2 0 4 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
c0007 0/0 1719 10 5 4 0 1 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
c0008 0/0 1719 6 0 4 0 1 1 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
c0009 0/0 1719 6 6 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
c0010 0/0 1719 5 4 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
c0011 0/0 1719 4 4 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
c0012 0/0 1719 2 2 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
c0013 0/0 1719 2 2 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
c0014 0/0 1719 2 2 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
c0015 0/0 1719 2 0 0 1 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
c0016 0/0 1719 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
c0017 0/0 1719 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
c0018 0/0 1719 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
c0019 0/0 1719 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
c0020 0/0 1719 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
c0021 0/0 1719 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
c0022 0/0 1719 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
c0023 0/0 1719 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/1 421 290 74 53 124 14 23 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
t0002 0/0 421 55 17 3 28 0 7 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
t0003 0/0 421 39 1 19 6 2 11 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
t0004 0/0 421 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
t0005 0/0 421 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 18 0 6 11 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0002 0/0 15 1 4 8 1 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0003 0/0 12 0 5 5 1 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0004 0/0 9 5 4 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0005 0/0 8 0 1 2 1 4 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0006 0/0 7 0 1 6 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0007 0/0 7 0 4 0 2 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0008 0/0 6 0 0 5 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0009 0/0 5 0 3 1 1 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0010 0/0 4 4 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0011 0/0 4 0 0 4 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0012 0/0 4 0 2 0 0 2 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0013 0/0 4 0 4 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0014 0/0 3 0 1 0 1 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0015 0/0 3 0 0 3 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0016 0/0 3 0 0 3 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0017 0/0 3 0 1 2 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0018 0/0 3 0 0 2 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0019 0/0 3 3 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0020 0/0 3 2 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0021 0/0 2 2 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0022 0/0 2 2 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0023 0/0 2 0 2 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0024 0/0 2 0 0 2 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0025 0/0 2 0 0 1 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0026 0/0 2 0 0 2 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0027 0/0 2 0 0 0 1 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0028 0/0 2 0 0 0 2 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0029 0/0 2 0 2 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0030 0/0 2 0 0 2 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0031 0/0 2 0 0 0 0 2 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0032 0/0 2 0 0 2 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0033 0/0 2 2 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0034 0/0 2 0 2 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0035 0/0 2 0 0 0 0 2 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0036 0/0 2 1 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0037 0/0 2 2 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0038 0/1 2 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0039 0/0 2 0 0 2 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0040 0/0 2 0 2 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0041 0/0 2 0 0 1 1 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0042 0/0 2 0 2 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0043 0/0 2 0 1 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0044 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0045 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0046 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0047 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0048 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0049 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0050 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0051 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0052 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0053 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0054 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0055 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0056 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0057 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0058 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0059 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0060 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0061 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0062 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0063 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0064 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0065 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0066 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0067 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0068 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0069 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0070 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0071 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0072 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0073 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0074 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0075 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0076 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0077 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0078 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0079 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0080 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0081 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0082 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0083 0/0 1 0 0 0 1 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0084 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0085 1/0 1 0 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0086 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0087 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0088 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0089 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0090 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0091 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0092 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0093 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0094 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0095 0/0 1 0 0 0 1 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0096 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0097 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0098 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0099 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0100 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0101 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0102 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0103 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0104 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0105 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0106 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0107 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0108 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0109 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0110 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0111 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0112 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0113 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0114 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0115 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0116 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0117 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0118 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0119 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0120 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0121 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0122 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0123 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0124 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0125 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0126 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0127 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0128 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0129 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0130 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0131 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0132 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0133 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0134 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0135 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0136 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0137 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0138 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0139 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0140 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0141 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0142 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0143 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0144 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0145 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0146 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0147 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0148 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0149 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0150 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0151 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0152 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0153 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0154 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0155 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0156 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0157 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0158 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0159 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0160 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0161 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0162 0/0 1 0 0 0 1 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0163 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0164 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0165 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0166 0/0 1 0 0 0 1 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0167 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0168 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0169 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0170 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0171 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0172 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0173 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0174 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0175 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0176 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0177 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0178 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0179 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0180 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0181 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0182 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0183 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0184 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0185 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0186 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0187 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0188 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0189 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0190 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0191 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0192 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0193 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0194 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0195 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0196 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0197 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0198 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0199 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0200 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0201 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0202 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0203 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0204 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0205 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0206 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0207 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0208 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0209 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0210 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0211 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0212 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0213 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0214 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0215 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0216 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0217 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0218 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0219 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0220 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0221 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0222 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0223 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0224 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0225 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0226 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0227 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0228 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0229 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0230 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0231 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0232 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0233 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0234 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0235 0/0 1 0 0 0 1 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0236 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0237 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0238 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0239 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0240 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0241 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0242 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0243 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0244 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0245 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0246 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0247 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0248 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0249 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0250 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0251 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0252 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0253 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0254 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0255 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0256 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0257 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0258 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
g0259 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/0 1719 165 25 40 61 12 26 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0001c0007 0/0 1719 10 5 4 0 1 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0001c0018 0/0 1719 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0001c0020 0/0 1719 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0002c0002 0/0 1719 90 12 12 61 0 5 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0002c0016 0/0 1719 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0003c0003 0/0 1719 32 2 2 27 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0004c0004 0/1 1719 23 7 6 3 2 4 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0005c0006 0/0 1719 14 7 1 2 0 4 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0005c0015 0/0 1719 2 0 0 1 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0006c0005 0/0 1719 15 11 4 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0007c0008 0/0 1719 6 0 4 0 1 1 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0008c0009 0/0 1719 6 6 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0009c0010 0/0 1719 5 4 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0010c0011 0/0 1719 4 4 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0011c0013 0/0 1719 2 2 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0012c0012 0/0 1719 2 2 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0013c0014 0/0 1719 2 2 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0014c0023 0/0 1719 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0015c0022 0/0 1719 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0016c0017 0/0 1719 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0017c0019 0/0 1719 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0018c0021 0/0 1719 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 1/0 2139 119 18 21 55 10 14 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0001c0001t0002 0/0 2139 6 6 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0001c0001t0003 0/0 2139 39 1 19 6 2 11 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0001c0001t0005 0/0 2139 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0001c0007t0001 0/0 2139 10 5 4 0 1 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0001c0018t0001 0/0 2139 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0001c0020t0001 0/0 2139 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0002c0002t0001 0/0 2139 88 11 12 61 0 4 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0002c0002t0002 0/0 2139 2 1 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0002c0016t0001 0/0 2139 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0003c0003t0002 0/0 2139 32 2 2 27 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0004c0004t0001 0/1 2139 23 7 6 3 2 4 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0005c0006t0001 0/0 2139 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0005c0006t0002 0/0 2139 13 7 1 1 0 4 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0005c0015t0001 0/0 2139 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0005c0015t0002 0/0 2139 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0006c0005t0001 0/0 2139 15 11 4 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0007c0008t0001 0/0 2139 6 0 4 0 1 1 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0008c0009t0001 0/0 2139 6 6 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0009c0010t0001 0/0 2139 5 4 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0010c0011t0001 0/0 2139 4 4 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0011c0013t0001 0/0 2139 2 2 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0012c0012t0001 0/0 2139 2 2 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0013c0014t0001 0/0 2139 2 2 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0014c0023t0004 0/0 2139 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0015c0022t0002 0/0 2139 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0016c0017t0001 0/0 2139 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0017c0019t0001 0/0 2139 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636
a0018c0021t0001 0/0 2139 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 copy fasta chr3 129396321 129433636

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0002 0/0 15 1 4 8 1 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0003 0/0 12 0 5 5 1 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0009 0/0 5 0 3 1 1 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0023 0/0 2 0 2 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0024 0/0 2 0 0 2 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0025 0/0 2 0 0 1 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0026 0/0 2 0 0 2 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0027 0/0 2 0 0 0 1 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0028 0/0 2 0 0 0 2 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0034 0/0 2 0 2 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0035 0/0 2 0 0 0 0 2 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0037 0/0 2 2 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0050 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0051 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0052 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0053 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0054 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0055 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0056 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0057 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0058 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0059 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0060 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0061 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0062 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0063 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0064 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0065 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0066 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0067 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0068 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0069 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0070 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0071 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0072 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0073 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0074 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0075 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0076 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0077 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0078 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0079 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0080 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0082 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0083 0/0 1 0 0 0 1 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0084 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0085 1/0 1 0 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0086 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0087 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0088 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0089 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0090 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0091 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0092 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0093 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0095 0/0 1 0 0 0 1 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0096 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0097 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0098 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0101 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0108 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0111 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0113 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0114 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0153 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0158 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0160 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0162 0/0 1 0 0 0 1 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0163 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0164 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0165 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0166 0/0 1 0 0 0 1 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0167 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0177 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0178 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0183 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0184 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0185 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0192 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0241 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0001g0242 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0002g0019 0/0 3 3 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0002g0186 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0002g0187 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0002g0188 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0003g0005 0/0 8 0 1 2 1 4 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0003g0012 0/0 4 0 2 0 0 2 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0003g0013 0/0 4 0 4 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0003g0040 0/0 2 0 2 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0003g0041 0/0 2 0 0 1 1 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0003g0042 0/0 2 0 2 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0003g0043 0/0 2 0 1 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0003g0244 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0003g0245 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0003g0246 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0003g0247 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0003g0248 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0003g0249 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0003g0250 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0003g0251 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0003g0252 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0003g0253 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0003g0254 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0003g0255 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0003g0256 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0003g0257 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0003g0258 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0001t0005g0259 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0007t0001g0112 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0007t0001g0212 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0007t0001g0231 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0007t0001g0232 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0007t0001g0233 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0007t0001g0234 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0007t0001g0235 0/0 1 0 0 0 1 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0007t0001g0236 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0007t0001g0237 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0007t0001g0239 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0018t0001g0161 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0001c0020t0001g0240 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0001 0/0 18 0 6 11 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0008 0/0 6 0 0 5 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0011 0/0 4 0 0 4 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0015 0/0 3 0 0 3 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0016 0/0 3 0 0 3 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0021 0/0 2 2 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0022 0/0 2 2 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0030 0/0 2 0 0 2 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0031 0/0 2 0 0 0 0 2 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0032 0/0 2 0 0 2 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0039 0/0 2 0 0 2 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0047 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0081 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0103 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0105 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0115 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0116 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0117 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0118 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0119 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0123 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0124 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0125 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0126 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0127 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0128 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0129 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0130 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0131 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0132 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0134 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0135 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0136 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0137 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0138 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0139 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0140 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0141 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0142 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0143 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0144 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0145 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0146 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0147 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0148 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0150 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0180 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0211 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0225 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0227 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0228 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0229 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0001g0238 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0002g0045 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0002t0002g0226 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0002c0016t0001g0120 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0003c0003t0002g0006 0/0 7 0 1 6 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0003c0003t0002g0017 0/0 3 0 1 2 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0003c0003t0002g0018 0/0 3 0 0 2 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0003c0003t0002g0036 0/0 2 1 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0003c0003t0002g0099 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0003c0003t0002g0100 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0003c0003t0002g0110 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0003c0003t0002g0156 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0003c0003t0002g0168 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0003c0003t0002g0169 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0003c0003t0002g0170 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0003c0003t0002g0171 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0003c0003t0002g0172 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0003c0003t0002g0173 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0003c0003t0002g0174 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0003c0003t0002g0175 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0003c0003t0002g0176 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0003c0003t0002g0179 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0003c0003t0002g0189 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0003c0003t0002g0190 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0003c0003t0002g0191 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0004c0004t0001g0007 0/0 7 0 4 0 2 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0004c0004t0001g0038 0/1 2 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0004c0004t0001g0044 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0004c0004t0001g0046 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0004c0004t0001g0208 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0004c0004t0001g0214 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0004c0004t0001g0215 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0004c0004t0001g0216 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0004c0004t0001g0217 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0004c0004t0001g0218 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0004c0004t0001g0220 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0004c0004t0001g0221 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0004c0004t0001g0222 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0004c0004t0001g0223 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0004c0004t0001g0224 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0004c0004t0001g0230 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0005c0006t0001g0206 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0005c0006t0002g0020 0/0 3 2 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0005c0006t0002g0193 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0005c0006t0002g0195 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0005c0006t0002g0197 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0005c0006t0002g0200 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0005c0006t0002g0201 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0005c0006t0002g0202 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0005c0006t0002g0203 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0005c0006t0002g0204 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0005c0006t0002g0205 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0005c0006t0002g0207 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0005c0015t0001g0199 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0005c0015t0002g0198 0/0 1 0 0 0 0 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0006c0005t0001g0004 0/0 9 5 4 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0006c0005t0001g0104 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0006c0005t0001g0106 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0006c0005t0001g0109 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0006c0005t0001g0149 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0006c0005t0001g0159 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0006c0005t0001g0194 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0007c0008t0001g0014 0/0 3 0 1 0 1 1 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0007c0008t0001g0029 0/0 2 0 2 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0007c0008t0001g0094 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0008c0009t0001g0010 0/0 4 4 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0008c0009t0001g0048 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0008c0009t0001g0049 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0009c0010t0001g0107 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0009c0010t0001g0152 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0009c0010t0001g0154 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0009c0010t0001g0155 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0009c0010t0001g0157 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0010c0011t0001g0209 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0010c0011t0001g0210 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0010c0011t0001g0213 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0010c0011t0001g0219 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0011c0013t0001g0033 0/0 2 2 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0012c0012t0001g0181 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0012c0012t0001g0182 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0013c0014t0001g0102 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0013c0014t0001g0122 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0014c0023t0004g0243 0/0 1 0 1 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0015c0022t0002g0196 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0016c0017t0001g0121 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0017c0019t0001g0151 0/0 1 1 0 0 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
a0018c0021t0001g0133 0/0 1 0 0 1 0 0 EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00140 hp1 a0001 c0007 t0001 g0235 EUR GBR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00140 hp2 a0001 c0001 t0001 g0095 EUR GBR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00280 hp1 a0007 c0008 t0001 g0014 EUR FIN EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00280 hp2 a0001 c0001 t0003 g0041 EUR FIN EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00323 hp1 a0001 c0001 t0001 g0027 EUR FIN EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00323 hp2 a0001 c0001 t0003 g0005 EUR FIN EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00408 hp1 a0004 c0004 t0001 g0222 EAS CHS EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00408 hp2 a0001 c0001 t0001 g0002 EAS CHS EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00423 hp1 a0003 c0003 t0002 g0036 EAS CHS EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00423 hp2 a0001 c0001 t0001 g0077 EAS CHS EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00544 hp1 a0002 c0002 t0001 g0032 EAS CHS EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00544 hp2 a0002 c0002 t0001 g0228 EAS CHS EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00558 hp1 a0002 c0002 t0001 g0132 EAS CHS EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00558 hp2 a0001 c0001 t0001 g0069 EAS CHS EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00597 hp1 a0002 c0002 t0001 g0011 EAS CHS EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00597 hp2 a0001 c0001 t0001 g0003 EAS CHS EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00609 hp1 a0001 c0001 t0001 g0064 EAS CHS EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00609 hp2 a0001 c0001 t0001 g0002 EAS CHS EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00621 hp1 a0003 c0003 t0002 g0018 EAS CHS EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00621 hp2 a0004 c0004 t0001 g0217 EAS CHS EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00639 hp1 a0001 c0001 t0003 g0043 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00639 hp2 a0003 c0003 t0002 g0017 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00642 hp1 a0004 c0004 t0001 g0007 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00642 hp2 a0007 c0008 t0001 g0029 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00673 hp1 a0001 c0001 t0001 g0114 EAS CHS EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00673 hp2 a0002 c0002 t0001 g0001 EAS CHS EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00735 hp1 a0001 c0007 t0001 g0239 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00735 hp2 a0001 c0001 t0001 g0002 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00738 hp1 a0001 c0007 t0001 g0233 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00738 hp2 a0006 c0005 t0001 g0004 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00741 hp1 a0001 c0001 t0003 g0005 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG00741 hp2 a0007 c0008 t0001 g0094 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01069 hp1 a0001 c0001 t0001 g0034 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01069 hp2 a0001 c0001 t0001 g0002 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01070 hp1 a0004 c0004 t0001 g0007 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01070 hp2 a0002 c0002 t0001 g0116 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01071 hp1 a0004 c0004 t0001 g0007 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01071 hp2 a0001 c0001 t0001 g0034 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01074 hp1 a0002 c0002 t0001 g0115 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01074 hp2 a0001 c0001 t0001 g0003 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01081 hp1 a0002 c0002 t0001 g0001 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01081 hp2 a0001 c0001 t0003 g0249 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01099 hp1 a0001 c0001 t0003 g0012 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01099 hp2 a0007 c0008 t0001 g0029 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01109 hp1 a0001 c0001 t0001 g0084 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01109 hp2 a0009 c0010 t0001 g0154 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01167 hp1 a0001 c0001 t0001 g0052 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01167 hp2 a0006 c0005 t0001 g0004 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01168 hp1 a0004 c0004 t0001 g0038 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01168 hp2 a0001 c0001 t0003 g0040 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01169 hp1 a0001 c0001 t0003 g0040 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01169 hp2 a0006 c0005 t0001 g0004 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01175 hp1 a0001 c0007 t0001 g0212 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01175 hp2 a0001 c0001 t0003 g0254 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01192 hp1 a0004 c0004 t0001 g0007 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01192 hp2 a0002 c0002 t0001 g0001 AMR PUR EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01255 hp1 a0002 c0016 t0001 g0120 AMR CLM EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01255 hp2 a0005 c0006 t0002 g0020 AMR CLM EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01256 hp1 a0001 c0001 t0001 g0009 AMR CLM EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01256 hp2 a0001 c0001 t0003 g0248 AMR CLM EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01257 hp1 a0002 c0002 t0001 g0140 AMR CLM EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01257 hp2 a0001 c0001 t0001 g0009 AMR CLM EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01261 hp1 a0001 c0001 t0003 g0012 AMR CLM EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01261 hp2 a0001 c0001 t0001 g0003 AMR CLM EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01346 hp1 a0006 c0005 t0001 g0004 AMR CLM EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01346 hp2 a0002 c0002 t0001 g0001 AMR CLM EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01358 hp1 a0001 c0001 t0001 g0003 AMR CLM EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01358 hp2 a0001 c0001 t0003 g0255 AMR CLM EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01361 hp1 a0002 c0002 t0001 g0144 AMR CLM EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01361 hp2 a0001 c0007 t0001 g0234 AMR CLM EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01433 hp1 a0002 c0002 t0001 g0001 AMR CLM EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01433 hp2 a0004 c0004 t0001 g0220 AMR CLM EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01496 hp1 a0014 c0023 t0004 g0243 AMR CLM EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01496 hp2 a0001 c0001 t0001 g0061 AMR CLM EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01515 hp1 a0001 c0001 t0001 g0162 EUR IBS EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01515 hp2 a0001 c0001 t0001 g0028 EUR IBS EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01516 hp1 a0001 c0001 t0001 g0009 EUR IBS EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01516 hp2 a0004 c0004 t0001 g0007 EUR IBS EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01517 hp1 a0001 c0001 t0001 g0028 EUR IBS EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01517 hp2 a0004 c0004 t0001 g0007 EUR IBS EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01884 hp1 a0001 c0007 t0001 g0232 AFR ACB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01884 hp2 a0002 c0002 t0001 g0148 AFR ACB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01891 hp1 a0010 c0011 t0001 g0213 AFR ACB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01891 hp2 a0004 c0004 t0001 g0046 AFR ACB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01928 hp1 a0002 c0002 t0001 g0001 AMR PEL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01928 hp2 a0001 c0001 t0001 g0002 AMR PEL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01934 hp1 a0001 c0001 t0003 g0013 AMR PEL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01934 hp2 a0001 c0001 t0001 g0023 AMR PEL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01943 hp1 a0001 c0001 t0003 g0257 AMR PEL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01943 hp2 a0001 c0001 t0003 g0252 AMR PEL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01975 hp1 a0002 c0002 t0001 g0139 AMR PEL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01975 hp2 a0001 c0001 t0003 g0013 AMR PEL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01978 hp1 a0001 c0001 t0003 g0042 AMR PEL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01978 hp2 a0001 c0001 t0001 g0092 AMR PEL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01981 hp1 a0003 c0003 t0002 g0006 AMR PEL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01981 hp2 a0001 c0001 t0001 g0023 AMR PEL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01993 hp1 a0001 c0001 t0001 g0003 AMR PEL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01993 hp2 a0002 c0002 t0001 g0001 AMR PEL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02004 hp1 a0001 c0001 t0003 g0258 AMR PEL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02004 hp2 a0001 c0001 t0003 g0013 AMR PEL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02015 hp1 a0002 c0002 t0001 g0039 EAS KHV EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02015 hp2 a0002 c0002 t0001 g0117 EAS KHV EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02027 hp1 a0002 c0002 t0001 g0016 EAS KHV EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02027 hp2 a0001 c0001 t0001 g0113 EAS KHV EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02055 hp1 a0001 c0001 t0001 g0158 AFR ACB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02055 hp2 a0005 c0006 t0002 g0205 AFR ACB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02056 hp1 a0001 c0001 t0001 g0059 EAS KHV EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02056 hp2 a0002 c0002 t0001 g0225 EAS KHV EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02071 hp1 a0003 c0003 t0002 g0171 EAS KHV EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02071 hp2 a0002 c0002 t0001 g0001 EAS KHV EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02074 hp1 a0001 c0001 t0001 g0073 EAS KHV EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02074 hp2 a0002 c0002 t0001 g0001 EAS KHV EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02080 hp1 a0001 c0001 t0001 g0025 EAS KHV EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02080 hp2 a0001 c0001 t0003 g0244 EAS KHV EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02083 hp1 a0001 c0001 t0003 g0256 EAS KHV EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02083 hp2 a0005 c0015 t0001 g0199 EAS KHV EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02129 hp1 a0002 c0002 t0001 g0016 EAS KHV EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02129 hp2 a0003 c0003 t0002 g0006 EAS KHV EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02132 hp1 a0003 c0003 t0002 g0017 EAS KHV EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02132 hp2 a0002 c0002 t0001 g0008 EAS KHV EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02135 hp1 a0003 c0003 t0002 g0174 EAS KHV EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02135 hp2 a0005 c0006 t0002 g0201 EAS KHV EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02145 hp1 a0001 c0001 t0001 g0101 AFR ACB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02145 hp2 a0001 c0007 t0001 g0231 AFR ACB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02165 hp1 a0002 c0002 t0001 g0001 EAS CDX EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02165 hp2 a0002 c0002 t0001 g0124 EAS CDX EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02257 hp1 a0012 c0012 t0001 g0182 AFR ACB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02257 hp2 a0001 c0007 t0001 g0237 AFR ACB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02258 hp1 a0001 c0001 t0001 g0037 AFR ACB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02258 hp2 a0001 c0007 t0001 g0236 AFR ACB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02273 hp1 a0001 c0001 t0003 g0013 AMR PEL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02273 hp2 a0001 c0001 t0001 g0002 AMR PEL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02280 hp1 a0008 c0009 t0001 g0048 AFR ACB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02280 hp2 a0013 c0014 t0001 g0122 AFR ACB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02293 hp1 a0001 c0001 t0001 g0003 AMR PEL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02293 hp2 a0001 c0001 t0001 g0080 AMR PEL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02300 hp1 a0007 c0008 t0001 g0014 AMR PEL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02300 hp2 a0001 c0001 t0001 g0009 AMR PEL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02451 hp1 a0010 c0011 t0001 g0219 AFR ACB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02451 hp2 a0011 c0013 t0001 g0033 AFR ACB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02523 hp1 a0002 c0002 t0001 g0126 EAS KHV EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02523 hp2 a0003 c0003 t0002 g0099 EAS KHV EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02572 hp1 a0001 c0001 t0001 g0242 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02572 hp2 a0008 c0009 t0001 g0010 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02602 hp1 a0001 c0001 t0001 g0088 SAS PJL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02602 hp2 a0001 c0001 t0003 g0251 SAS PJL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02615 hp1 a0008 c0009 t0001 g0010 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02615 hp2 a0005 c0006 t0002 g0020 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02622 hp1 a0002 c0002 t0002 g0045 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02622 hp2 a0001 c0001 t0001 g0002 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02630 hp1 a0003 c0003 t0002 g0179 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02630 hp2 a0006 c0005 t0001 g0149 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02647 hp1 a0001 c0001 t0001 g0153 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02647 hp2 a0001 c0001 t0002 g0019 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02683 hp1 a0001 c0001 t0003 g0005 SAS PJL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02683 hp2 a0001 c0001 t0001 g0002 SAS PJL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02698 hp1 a0001 c0001 t0001 g0163 SAS PJL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02698 hp2 a0007 c0008 t0001 g0014 SAS PJL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02717 hp1 a0006 c0005 t0001 g0004 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02717 hp2 a0001 c0001 t0002 g0019 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02723 hp1 a0002 c0002 t0001 g0180 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02723 hp2 a0001 c0001 t0001 g0111 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02735 hp1 a0001 c0001 t0003 g0247 SAS PJL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02735 hp2 a0001 c0001 t0001 g0035 SAS PJL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02809 hp1 a0010 c0011 t0001 g0209 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02809 hp2 a0002 c0002 t0001 g0146 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02818 hp1 a0006 c0005 t0001 g0159 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02818 hp2 a0008 c0009 t0001 g0010 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02886 hp1 a0001 c0001 t0001 g0192 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02886 hp2 a0004 c0004 t0001 g0214 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02895 hp1 a0001 c0007 t0001 g0112 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02895 hp2 a0006 c0005 t0001 g0004 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02896 hp1 a0006 c0005 t0001 g0194 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02896 hp2 a0002 c0002 t0001 g0022 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02922 hp1 a0002 c0002 t0001 g0021 AFR ESN EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02922 hp2 a0012 c0012 t0001 g0181 AFR ESN EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02965 hp1 a0002 c0002 t0001 g0021 AFR ESN EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02965 hp2 a0004 c0004 t0001 g0215 AFR ESN EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02970 hp1 a0001 c0001 t0002 g0186 AFR ESN EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02970 hp2 a0004 c0004 t0001 g0216 AFR ESN EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02976 hp1 a0017 c0019 t0001 g0151 AFR ESN EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02976 hp2 a0001 c0001 t0002 g0188 AFR ESN EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03041 hp1 a0001 c0001 t0001 g0167 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03041 hp2 a0010 c0011 t0001 g0210 AFR GWD EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03098 hp1 a0011 c0013 t0001 g0033 AFR MSL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03098 hp2 a0001 c0001 t0001 g0177 AFR MSL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03139 hp1 a0001 c0001 t0001 g0184 AFR ESN EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03139 hp2 a0003 c0003 t0002 g0036 AFR ESN EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03195 hp1 a0006 c0005 t0001 g0004 AFR ESN EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03195 hp2 a0001 c0001 t0001 g0108 AFR ESN EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03209 hp1 a0009 c0010 t0001 g0152 AFR MSL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03209 hp2 a0008 c0009 t0001 g0049 AFR MSL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03225 hp1 a0009 c0010 t0001 g0155 AFR MSL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03225 hp2 a0004 c0004 t0001 g0218 AFR MSL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03239 hp1 a0004 c0004 t0001 g0007 SAS PJL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03239 hp2 a0001 c0001 t0003 g0012 SAS PJL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03453 hp1 a0005 c0006 t0002 g0195 AFR MSL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03453 hp2 a0006 c0005 t0001 g0004 AFR MSL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03486 hp1 a0001 c0001 t0001 g0241 AFR MSL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03486 hp2 a0002 c0002 t0001 g0022 AFR MSL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03490 hp1 a0002 c0002 t0001 g0031 SAS PJL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03490 hp2 a0001 c0001 t0003 g0005 SAS PJL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03491 hp1 a0005 c0006 t0002 g0202 SAS PJL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03491 hp2 a0001 c0001 t0003 g0005 SAS PJL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03492 hp1 a0002 c0002 t0001 g0031 SAS PJL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03492 hp2 a0001 c0001 t0003 g0005 SAS PJL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03516 hp1 a0002 c0002 t0001 g0047 AFR ESN EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03516 hp2 a0001 c0001 t0002 g0187 AFR ESN EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03579 hp1 a0001 c0001 t0001 g0185 AFR MSL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03579 hp2 a0001 c0001 t0001 g0183 AFR MSL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03654 hp1 a0002 c0002 t0001 g0008 SAS PJL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03654 hp2 a0001 c0001 t0003 g0043 SAS PJL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03669 hp1 a0003 c0003 t0002 g0018 SAS PJL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03669 hp2 a0001 c0001 t0001 g0087 SAS PJL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03688 hp1 a0001 c0001 t0001 g0025 SAS STU EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03688 hp2 a0004 c0004 t0001 g0223 SAS STU EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03704 hp1 a0001 c0001 t0001 g0027 SAS PJL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03704 hp2 a0001 c0001 t0001 g0091 SAS PJL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03710 hp1 a0002 c0002 t0001 g0001 SAS PJL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03710 hp2 a0001 c0001 t0001 g0003 SAS PJL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03831 hp1 a0001 c0001 t0001 g0076 SAS BEB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03831 hp2 a0001 c0001 t0005 g0259 SAS BEB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03834 hp1 a0005 c0015 t0002 g0198 SAS BEB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03834 hp2 a0001 c0001 t0001 g0089 SAS BEB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03927 hp1 a0001 c0001 t0003 g0253 SAS BEB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03927 hp2 a0004 c0004 t0001 g0208 SAS BEB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03942 hp1 a0005 c0006 t0002 g0197 SAS BEB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03942 hp2 a0001 c0001 t0001 g0035 SAS BEB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG04115 hp1 a0001 c0001 t0001 g0090 SAS STU EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG04115 hp2 a0005 c0006 t0002 g0193 SAS STU EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG04204 hp1 a0004 c0004 t0001 g0224 SAS STU EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG04204 hp2 a0001 c0001 t0001 g0098 SAS STU EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG04228 hp1 a0002 c0002 t0002 g0226 SAS STU EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG04228 hp2 a0001 c0001 t0003 g0012 SAS STU EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18522 hp1 a0005 c0006 t0002 g0020 AFR YRI EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18522 hp2 a0001 c0001 t0001 g0178 AFR YRI EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18612 hp1 a0002 c0002 t0001 g0001 EAS CHB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18612 hp2 a0003 c0003 t0002 g0018 EAS CHB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18747 hp1 a0001 c0001 t0001 g0075 EAS CHB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18747 hp2 a0002 c0002 t0001 g0032 EAS CHB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18906 hp1 a0006 c0005 t0001 g0106 AFR YRI EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18906 hp2 a0004 c0004 t0001 g0221 AFR YRI EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18942 hp1 a0001 c0001 t0001 g0074 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18942 hp2 a0002 c0002 t0001 g0142 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18944 hp1 a0002 c0002 t0001 g0011 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18944 hp2 a0001 c0001 t0001 g0003 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18947 hp1 a0001 c0001 t0001 g0078 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18947 hp2 a0018 c0021 t0001 g0133 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18950 hp1 a0002 c0002 t0001 g0039 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18950 hp2 a0001 c0001 t0001 g0002 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18951 hp1 a0002 c0002 t0001 g0123 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18951 hp2 a0001 c0001 t0003 g0041 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18952 hp1 a0001 c0001 t0001 g0165 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18952 hp2 a0005 c0006 t0001 g0206 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18956 hp1 a0001 c0001 t0001 g0058 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18956 hp2 a0001 c0001 t0001 g0160 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18957 hp1 a0003 c0003 t0002 g0100 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18957 hp2 a0001 c0001 t0001 g0024 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18959 hp1 a0016 c0017 t0001 g0121 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18959 hp2 a0001 c0001 t0003 g0005 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18960 hp1 a0002 c0002 t0001 g0001 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18960 hp2 a0001 c0001 t0001 g0070 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18962 hp1 a0001 c0001 t0001 g0024 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18962 hp2 a0003 c0003 t0002 g0190 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18966 hp1 a0002 c0002 t0001 g0135 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18966 hp2 a0003 c0003 t0002 g0169 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18968 hp1 a0002 c0002 t0001 g0131 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18968 hp2 a0001 c0001 t0003 g0005 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18971 hp1 a0001 c0001 t0001 g0062 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18971 hp2 a0003 c0003 t0002 g0017 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18973 hp1 a0002 c0002 t0001 g0001 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18973 hp2 a0001 c0001 t0001 g0164 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18974 hp1 a0001 c0001 t0001 g0096 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18974 hp2 a0001 c0001 t0003 g0245 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18975 hp1 a0003 c0003 t0002 g0172 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18975 hp2 a0002 c0002 t0001 g0130 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18978 hp1 a0001 c0001 t0001 g0072 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18978 hp2 a0002 c0002 t0001 g0136 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18979 hp1 a0002 c0002 t0001 g0081 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18979 hp2 a0001 c0001 t0001 g0063 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18981 hp1 a0001 c0001 t0001 g0050 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18981 hp2 a0002 c0002 t0001 g0145 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18984 hp1 a0002 c0002 t0001 g0015 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18984 hp2 a0001 c0001 t0001 g0071 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18986 hp1 a0001 c0001 t0001 g0003 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18986 hp2 a0002 c0002 t0001 g0001 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18988 hp1 a0001 c0001 t0001 g0097 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18988 hp2 a0002 c0002 t0001 g0143 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18989 hp1 a0002 c0002 t0001 g0015 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18989 hp2 a0003 c0003 t0002 g0176 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18992 hp1 a0001 c0001 t0001 g0002 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18992 hp2 a0001 c0018 t0001 g0161 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18993 hp1 a0002 c0002 t0001 g0127 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18993 hp2 a0001 c0001 t0001 g0051 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18994 hp1 a0002 c0002 t0001 g0134 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18994 hp2 a0001 c0001 t0001 g0065 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18995 hp1 a0002 c0002 t0001 g0030 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18995 hp2 a0001 c0001 t0001 g0002 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18997 hp1 a0001 c0001 t0001 g0057 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18997 hp2 a0003 c0003 t0002 g0006 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18999 hp1 a0002 c0002 t0001 g0229 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18999 hp2 a0002 c0002 t0001 g0008 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19000 hp1 a0003 c0003 t0002 g0110 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19000 hp2 a0002 c0002 t0001 g0103 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19001 hp1 a0002 c0002 t0001 g0150 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19001 hp2 a0001 c0001 t0001 g0056 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19002 hp1 a0002 c0002 t0001 g0138 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19002 hp2 a0001 c0001 t0001 g0093 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19005 hp1 a0003 c0003 t0002 g0006 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19005 hp2 a0002 c0002 t0001 g0118 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19007 hp1 a0001 c0001 t0001 g0026 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19007 hp2 a0003 c0003 t0002 g0006 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19009 hp1 a0001 c0001 t0001 g0002 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19009 hp2 a0002 c0002 t0001 g0008 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19011 hp1 a0002 c0002 t0001 g0008 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19011 hp2 a0003 c0003 t0002 g0191 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19030 hp1 a0009 c0010 t0001 g0107 AFR LWK EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19030 hp2 a0013 c0014 t0001 g0102 AFR LWK EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19043 hp1 a0005 c0006 t0002 g0204 AFR LWK EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19043 hp2 a0004 c0004 t0001 g0044 AFR LWK EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19054 hp1 a0001 c0001 t0001 g0002 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19054 hp2 a0002 c0002 t0001 g0105 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19055 hp1 a0003 c0003 t0002 g0168 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19055 hp2 a0001 c0001 t0001 g0079 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19056 hp1 a0002 c0002 t0001 g0001 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19056 hp2 a0003 c0003 t0002 g0170 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19057 hp1 a0002 c0002 t0001 g0030 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19057 hp2 a0001 c0001 t0001 g0067 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19058 hp1 a0003 c0003 t0002 g0156 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19058 hp2 a0002 c0002 t0001 g0119 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19060 hp1 a0004 c0004 t0001 g0230 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19060 hp2 a0002 c0002 t0001 g0008 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19063 hp1 a0001 c0001 t0001 g0009 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19063 hp2 a0002 c0002 t0001 g0129 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19065 hp1 a0002 c0002 t0001 g0011 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19065 hp2 a0001 c0001 t0001 g0002 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19066 hp1 a0002 c0002 t0001 g0227 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19066 hp2 a0001 c0001 t0001 g0003 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19067 hp1 a0001 c0001 t0001 g0055 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19067 hp2 a0002 c0002 t0001 g0015 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19068 hp1 a0002 c0002 t0001 g0128 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19068 hp2 a0001 c0001 t0001 g0003 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19074 hp1 a0001 c0001 t0001 g0066 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19074 hp2 a0003 c0003 t0002 g0006 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19077 hp1 a0002 c0002 t0001 g0001 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19077 hp2 a0001 c0001 t0001 g0053 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19079 hp1 a0003 c0003 t0002 g0175 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19079 hp2 a0002 c0002 t0001 g0001 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19081 hp1 a0003 c0003 t0002 g0189 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19081 hp2 a0002 c0002 t0001 g0137 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19084 hp1 a0002 c0002 t0001 g0016 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19084 hp2 a0003 c0003 t0002 g0006 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19089 hp1 a0002 c0002 t0001 g0011 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19089 hp2 a0001 c0001 t0001 g0082 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19090 hp1 a0002 c0002 t0001 g0141 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19090 hp2 a0001 c0001 t0001 g0026 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19091 hp1 a0003 c0003 t0002 g0173 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19091 hp2 a0001 c0001 t0001 g0068 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19240 hp1 a0005 c0006 t0002 g0200 AFR YRI EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA19240 hp2 a0002 c0002 t0001 g0211 AFR YRI EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA20129 hp1 a0001 c0001 t0001 g0037 AFR ASW EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA20129 hp2 a0006 c0005 t0001 g0109 AFR ASW EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA20752 hp1 a0001 c0001 t0001 g0083 EUR TSI EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA20752 hp2 a0001 c0001 t0001 g0003 EUR TSI EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA20805 hp1 a0001 c0001 t0001 g0166 EUR TSI EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA20805 hp2 a0001 c0001 t0001 g0002 EUR TSI EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA20905 hp1 a0005 c0006 t0002 g0207 SAS GIH EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA20905 hp2 a0001 c0001 t0003 g0246 SAS GIH EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01123 hp1 a0001 c0001 t0003 g0042 AMR CLM EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG01123 hp2 a0002 c0002 t0001 g0238 AMR CLM EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02109 hp1 a0008 c0009 t0001 g0010 AFR ACB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02109 hp2 a0006 c0005 t0001 g0004 AFR ACB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02486 hp1 a0002 c0002 t0001 g0125 AFR ACB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02486 hp2 a0006 c0005 t0001 g0104 AFR ACB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02559 hp1 a0001 c0001 t0002 g0019 AFR ACB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG02559 hp2 a0015 c0022 t0002 g0196 AFR ACB EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03471 hp1 a0001 c0020 t0001 g0240 AFR MSL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
HG03471 hp2 a0009 c0010 t0001 g0157 AFR MSL EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18955 hp1 a0001 c0001 t0001 g0054 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA18955 hp2 a0001 c0001 t0001 g0060 EAS JPT EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA20300 hp1 a0005 c0006 t0002 g0203 AFR USA EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA20300 hp2 a0001 c0001 t0003 g0250 AFR USA EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA21309 hp1 a0002 c0002 t0001 g0147 AFR LWK EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
NA21309 hp2 a0001 c0001 t0001 g0086 AFR LWK EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
homoSapiens_chm13v2 hp1 a0004 c0004 t0001 g0038 REF REF EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636
homoSapiens_grch38 hp1 a0001 c0001 t0001 g0085 REF REF EFCAB12_chr3_129396321_129433636 EFCAB12 chr3 129396321 129433636

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
chr3:129401726 A
A
 G
G
 1 a0012
a0012
 2 HG02257.hp1
HG02922.hp2
HG02257.hp1
HG02922.hp2
 missense_variant MODERATE c.1586T>C
c.1586T>C
 p.Leu529Pro
p.Leu529Pro
 EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 9/9 1734/2139 1586/1719 529/572 chr3 129401726
chr3:129401780 A
A
 G
G
 1 a0017
a0017
 1 HG02976.hp1
HG02976.hp1
 missense_variant MODERATE c.1532T>C
c.1532T>C
 p.Leu511Pro
p.Leu511Pro
 EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 9/9 1680/2139 1532/1719 511/572 chr3 129401780
chr3:129411175 G
G
 A
A
 3 a0004
a0010
a0011
a0004
a0010
a0011
 29 HG00408.hp1
HG00621.hp2
HG00642.hp1
others(26): Show 
HG00408.hp1
HG00621.hp2
HG00642.hp1
HG01070.hp1
HG01071.hp1
HG01168.hp1
HG01192.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG02451.hp1
HG02451.hp2
HG02809.hp1
HG02886.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03225.hp2
HG03239.hp1
HG03688.hp2
HG03927.hp2
HG04204.hp1
NA18906.hp2
NA19043.hp2
NA19060.hp1
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.1018C>T
c.1018C>T
 p.Arg340Trp
p.Arg340Trp
 EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/9 1166/2139 1018/1719 340/572 chr3 129411175
chr3:129411180 C
C
 T
T
 1 a0013
a0013
 2 HG02280.hp2
NA19030.hp2
HG02280.hp2
NA19030.hp2
 missense_variant MODERATE c.1013G>A
c.1013G>A
 p.Arg338His
p.Arg338His
 EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/9 1161/2139 1013/1719 338/572 chr3 129411180
chr3:129411181 G
G
 A
A
 1 a0018
a0018
 1 NA18947.hp2
NA18947.hp2
 missense_variant MODERATE c.1012C>T
c.1012C>T
 p.Arg338Cys
p.Arg338Cys
 EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/9 1160/2139 1012/1719 338/572 chr3 129411181
chr3:129411228 G
G
 A
A
 1 a0009
a0009
 5 HG01109.hp2
HG03209.hp1
HG03225.hp1
others(2): Show 
HG01109.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
NA19030.hp1
 missense_variant MODERATE c.965C>T
c.965C>T
 p.Thr322Met
p.Thr322Met
 EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/9 1113/2139 965/1719 322/572 chr3 129411228
chr3:129411244 C
C
 T
T
 1 a0003
a0003
 32 HG00423.hp1
HG00621.hp1
HG00639.hp2
others(29): Show 
HG00423.hp1
HG00621.hp1
HG00639.hp2
HG01981.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02523.hp2
HG02630.hp1
HG03139.hp2
HG03669.hp1
NA18612.hp2
NA18957.hp1
NA18962.hp2
NA18966.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA18997.hp2
NA19000.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp2
NA19055.hp1
NA19056.hp2
NA19058.hp1
NA19074.hp2
NA19079.hp1
NA19081.hp1
NA19084.hp2
NA19091.hp1
 missense_variant MODERATE c.949G>A
c.949G>A
 p.Asp317Asn
p.Asp317Asn
 EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/9 1097/2139 949/1719 317/572 chr3 129411244
chr3:129411354 T
T
 C
C
 4 a0002
a0013
a0016
others(1): Show 
a0002
a0013
a0016
a0018
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 missense_variant&splice_region_variant MODERATE c.839A>G
c.839A>G
 p.His280Arg
p.His280Arg
 EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/9 987/2139 839/1719 280/572 chr3 129411354
chr3:129418292 T
T
 C
C
 1 a0008
a0008
 6 HG02109.hp1
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02109.hp1
HG02280.hp1
HG02572.hp2
HG02615.hp1
HG02818.hp2
HG03209.hp2
 missense_variant MODERATE c.643A>G
c.643A>G
 p.Arg215Gly
p.Arg215Gly
 EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/9 791/2139 643/1719 215/572 chr3 129418292
chr3:129418345 C
C
 T
T
 1 a0007
a0007
 6 HG00280.hp1
HG00642.hp2
HG00741.hp2
others(3): Show 
HG00280.hp1
HG00642.hp2
HG00741.hp2
HG01099.hp2
HG02300.hp1
HG02698.hp2
 missense_variant MODERATE c.590G>A
c.590G>A
 p.Arg197His
p.Arg197His
 EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/9 738/2139 590/1719 197/572 chr3 129418345
chr3:129418402 T
T
 G
G
 2 a0006
a0011
a0006
a0011
 17 HG00738.hp2
HG01167.hp2
HG01169.hp2
others(14): Show 
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01346.hp1
HG02109.hp2
HG02451.hp2
HG02486.hp2
HG02630.hp2
HG02717.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG03098.hp1
HG03195.hp1
HG03453.hp2
NA18906.hp1
NA20129.hp2
 missense_variant MODERATE c.533A>C
c.533A>C
 p.Gln178Pro
p.Gln178Pro
 EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/9 681/2139 533/1719 178/572 chr3 129418402
chr3:129418417 C
C
 T
T
 1 a0010
a0010
 4 HG01891.hp1
HG02451.hp1
HG02809.hp1
others(1): Show 
HG01891.hp1
HG02451.hp1
HG02809.hp1
HG03041.hp2
 missense_variant MODERATE c.518G>A
c.518G>A
 p.Arg173His
p.Arg173His
 EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/9 666/2139 518/1719 173/572 chr3 129418417
chr3:129421656 T
T
 C
C
 4 a0002
a0013
a0016
others(1): Show 
a0002
a0013
a0016
a0018
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 missense_variant MODERATE c.197A>G
c.197A>G
 p.Glu66Gly
p.Glu66Gly
 EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/9 345/2139 197/1719 66/572 chr3 129421656
chr3:129421662 C
C
 T
T
 1 a0016
a0016
 1 NA18959.hp1
NA18959.hp1
 missense_variant MODERATE c.191G>A
c.191G>A
 p.Arg64His
p.Arg64His
 EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/9 339/2139 191/1719 64/572 chr3 129421662
chr3:129421683 C
C
 T
T
 1 a0015
a0015
 1 HG02559.hp2
HG02559.hp2
 missense_variant MODERATE c.170G>A
c.170G>A
 p.Arg57Gln
p.Arg57Gln
 EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/9 318/2139 170/1719 57/572 chr3 129421683
chr3:129421746 G
G
 A
A
 2 a0005
a0015
a0005
a0015
 17 HG01255.hp2
HG02055.hp2
HG02083.hp2
others(14): Show 
HG01255.hp2
HG02055.hp2
HG02083.hp2
HG02135.hp2
HG02559.hp2
HG02615.hp2
HG03453.hp1
HG03491.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
NA18522.hp1
NA18952.hp2
NA19043.hp1
NA19240.hp1
NA20300.hp1
NA20905.hp1
 missense_variant MODERATE c.107C>T
c.107C>T
 p.Pro36Leu
p.Pro36Leu
 EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/9 255/2139 107/1719 36/572 chr3 129421746
chr3:129421791 G
G
 C
C
 1 a0014
a0014
 1 HG01496.hp1
HG01496.hp1
 missense_variant MODERATE c.62C>G
c.62C>G
 p.Ser21Cys
p.Ser21Cys
 EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/9 210/2139 62/1719 21/572 chr3 129421791

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
chr3:129411227 C
C
 T
T
 1 a0005c0015
a0005c0015
 2 HG02083.hp2
HG03834.hp1
HG02083.hp2
HG03834.hp1
 synonymous_variant LOW c.966G>A
c.966G>A
 p.Thr322Thr
p.Thr322Thr
 EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/9 1114/2139 966/1719 322/572 chr3 129411227
chr3:129411302 C
C
 T
T
 1 a0001c0020
a0001c0020
 1 HG03471.hp1
HG03471.hp1
 synonymous_variant LOW c.891G>A
c.891G>A
 p.Gln297Gln
p.Gln297Gln
 EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/9 1039/2139 891/1719 297/572 chr3 129411302
chr3:129415399 G
G
 A
A
 5 a0002c0002
a0002c0016
a0013c0014
others(2): Show 
a0002c0002
a0002c0016
a0013c0014
a0016c0017
a0018c0021
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 splice_region_variant&synonymous_variant LOW c.684C>T
c.684C>T
 p.Val228Val
p.Val228Val
 EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/9 832/2139 684/1719 228/572 chr3 129415399
chr3:129418284 G
G
 A
A
 5 a0002c0002
a0002c0016
a0013c0014
others(2): Show 
a0002c0002
a0002c0016
a0013c0014
a0016c0017
a0018c0021
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 synonymous_variant LOW c.651C>T
c.651C>T
 p.Thr217Thr
p.Thr217Thr
 EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/9 799/2139 651/1719 217/572 chr3 129418284
chr3:129421388 C
C
 T
T
 1 a0001c0018
a0001c0018
 1 NA18992.hp2
NA18992.hp2
 synonymous_variant LOW c.465G>A
c.465G>A
 p.Gln155Gln
p.Gln155Gln
 EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/9 613/2139 465/1719 155/572 chr3 129421388
chr3:129421646 T
T
 C
C
 6 a0001c0007
a0001c0020
a0004c0004
others(3): Show 
a0001c0007
a0001c0020
a0004c0004
a0006c0005
a0010c0011
a0011c0013
 55 HG00140.hp1
HG00408.hp1
HG00621.hp2
others(52): Show 
HG00140.hp1
HG00408.hp1
HG00621.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02630.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03688.hp2
HG03927.hp2
HG04204.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA19060.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.207A>G
c.207A>G
 p.Thr69Thr
p.Thr69Thr
 EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/9 355/2139 207/1719 69/572 chr3 129421646
chr3:129421793 C
C
 T
T
 1 a0002c0016
a0002c0016
 1 HG01255.hp1
HG01255.hp1
 synonymous_variant LOW c.60G>A
c.60G>A
 p.Pro20Pro
p.Pro20Pro
 EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/9 208/2139 60/1719 20/572 chr3 129421793

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
chr3:129401334 A
A
 G
G
 6 a0001c0001t0002
a0002c0002t0002
a0003c0003t0002
others(3): Show 
a0001c0001t0002
a0002c0002t0002
a0003c0003t0002
a0005c0006t0002
a0005c0015t0002
a0015c0022t0002
 55 HG00423.hp1
HG00621.hp1
HG00639.hp2
others(52): Show 
HG00423.hp1
HG00621.hp1
HG00639.hp2
HG01255.hp2
HG01981.hp1
HG02055.hp2
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02970.hp1
HG02976.hp2
HG03139.hp2
HG03453.hp1
HG03491.hp1
HG03516.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04228.hp1
NA18522.hp1
NA18612.hp2
NA18957.hp1
NA18962.hp2
NA18966.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA18997.hp2
NA19000.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp2
NA19043.hp1
NA19055.hp1
NA19056.hp2
NA19058.hp1
NA19074.hp2
NA19079.hp1
NA19081.hp1
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*259T>C
c.*259T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 9/9 259 chr3 129401334
chr3:129428527 G
G
 A
A
 1 a0001c0001t0005
a0001c0001t0005
 1 HG03831.hp2
HG03831.hp2
 5_prime_UTR_variant MODIFIER c.-39C>T
c.-39C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/9 39 chr3 129428527
chr3:129428554 C
C
 A
A
 1 a0014c0023t0004
a0014c0023t0004
 1 HG01496.hp1
HG01496.hp1
 5_prime_UTR_variant MODIFIER c.-66G>T
c.-66G>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/9 66 chr3 129428554
chr3:129428575 G
G
 A
A
 2 a0001c0001t0003
a0001c0001t0005
a0001c0001t0003
a0001c0001t0005
 40 HG00280.hp2
HG00323.hp2
HG00639.hp1
others(37): Show 
HG00280.hp2
HG00323.hp2
HG00639.hp1
HG00741.hp1
HG01081.hp2
HG01099.hp1
HG01123.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01256.hp2
HG01261.hp1
HG01358.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG02004.hp1
HG02004.hp2
HG02080.hp2
HG02083.hp1
HG02273.hp1
HG02602.hp2
HG02683.hp1
HG02735.hp1
HG03239.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG03831.hp2
HG03927.hp1
HG04228.hp2
NA18951.hp2
NA18959.hp2
NA18968.hp2
NA18974.hp2
NA20300.hp2
NA20905.hp2
 5_prime_UTR_premature_start_codon_gain_variant LOW c.-87C>T
c.-87C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/9 chr3 129428575

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
chr3:129401900 A
A
 G
G
 152 a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0037
others(149): Show 
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0056
a0001c0001t0001g0086
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0177
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0241
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0245
a0001c0001t0005g0259
a0001c0007t0001g0112
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0001c0018t0001g0161
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0003c0003t0002g0006
a0003c0003t0002g0017
a0003c0003t0002g0018
a0003c0003t0002g0036
a0003c0003t0002g0099
a0003c0003t0002g0100
a0003c0003t0002g0110
a0003c0003t0002g0156
a0003c0003t0002g0168
a0003c0003t0002g0169
a0003c0003t0002g0170
a0003c0003t0002g0171
a0003c0003t0002g0172
a0003c0003t0002g0173
a0003c0003t0002g0174
a0003c0003t0002g0175
a0003c0003t0002g0176
a0003c0003t0002g0179
a0003c0003t0002g0189
a0003c0003t0002g0190
a0003c0003t0002g0191
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0002g0198
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0009c0010t0001g0107
a0009c0010t0001g0152
a0009c0010t0001g0154
a0009c0010t0001g0155
a0009c0010t0001g0157
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
a0012c0012t0001g0181
a0012c0012t0001g0182
a0013c0014t0001g0102
a0013c0014t0001g0122
a0014c0023t0004g0243
a0015c0022t0002g0196
a0016c0017t0001g0121
a0017c0019t0001g0151
a0018c0021t0001g0133
 219 HG00140.hp1
HG00408.hp1
HG00423.hp1
others(216): Show 
HG00140.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02015.hp2
HG02027.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1461-49T>C
c.1461-49T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 8/8 chr3 129401900
chr3:129401933 G
G
 A
A
 1 a0005c0006t0002g0204
a0005c0006t0002g0204
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1461-82C>T
c.1461-82C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 8/8 chr3 129401933
chr3:129401972 C
C
 T
T
 1 a0002c0002t0001g0118
a0002c0002t0001g0118
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.1461-121G>A
c.1461-121G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 8/8 chr3 129401972
chr3:129401974 C
C
 T
T
 1 a0002c0002t0001g0118
a0002c0002t0001g0118
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.1461-123G>A
c.1461-123G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 8/8 chr3 129401974
chr3:129402057 C
C
 T
T
 2 a0001c0001t0001g0101
a0001c0001t0001g0108
a0001c0001t0001g0101
a0001c0001t0001g0108
 2 HG02145.hp1
HG03195.hp2
HG02145.hp1
HG03195.hp2
 intron_variant MODIFIER c.1461-206G>A
c.1461-206G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 8/8 chr3 129402057
chr3:129402060 C
C
 T
T
 1 a0001c0007t0001g0237
a0001c0007t0001g0237
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.1461-209G>A
c.1461-209G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 8/8 chr3 129402060
chr3:129402081 A
A
 G
G
 2 a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0130
a0002c0002t0001g0131
 2 NA18968.hp1
NA18975.hp2
NA18968.hp1
NA18975.hp2
 intron_variant MODIFIER c.1461-230T>C
c.1461-230T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 8/8 chr3 129402081
chr3:129402202 G
G
 T
T
 25 a0001c0001t0001g0183
a0001c0001t0001g0192
a0001c0001t0001g0242
others(22): Show 
a0001c0001t0001g0183
a0001c0001t0001g0192
a0001c0001t0001g0242
a0001c0007t0001g0239
a0001c0020t0001g0240
a0002c0002t0001g0011
a0002c0002t0001g0081
a0002c0002t0001g0105
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0143
a0002c0002t0001g0150
a0003c0003t0002g0006
a0003c0003t0002g0017
a0003c0003t0002g0018
a0003c0003t0002g0036
a0003c0003t0002g0100
a0003c0003t0002g0110
a0003c0003t0002g0156
a0003c0003t0002g0168
a0003c0003t0002g0169
a0003c0003t0002g0170
a0003c0003t0002g0179
a0003c0003t0002g0189
 39 HG00423.hp1
HG00597.hp1
HG00621.hp1
others(36): Show 
HG00423.hp1
HG00597.hp1
HG00621.hp1
HG00639.hp2
HG00735.hp1
HG01981.hp1
HG02129.hp2
HG02132.hp1
HG02572.hp1
HG02630.hp1
HG02886.hp1
HG03139.hp2
HG03471.hp1
HG03579.hp2
HG03669.hp1
NA18612.hp2
NA18944.hp1
NA18957.hp1
NA18966.hp2
NA18971.hp2
NA18978.hp2
NA18979.hp1
NA18988.hp2
NA18997.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp2
NA19058.hp1
NA19065.hp1
NA19074.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp2
NA19089.hp1
 intron_variant MODIFIER c.1460+321C>A
c.1460+321C>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 8/8 chr3 129402202
chr3:129402238 G
G
 A
A
 4 a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0047
others(1): Show 
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0047
a0002c0002t0001g0146
 6 HG02809.hp2
HG02896.hp2
HG02922.hp1
others(3): Show 
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03516.hp1
 intron_variant MODIFIER c.1460+285C>T
c.1460+285C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 8/8 chr3 129402238
chr3:129402670 C
C
 A
A
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.1404-91G>T
c.1404-91G>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 7/8 chr3 129402670
chr3:129402845 T
T
 C
C
 1 a0001c0001t0001g0070
a0001c0001t0001g0070
 1 NA18960.hp2
NA18960.hp2
 intron_variant MODIFIER c.1404-266A>G
c.1404-266A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 7/8 chr3 129402845
chr3:129402877 G
G
 A
A
 1 a0001c0001t0001g0071
a0001c0001t0001g0071
 1 NA18984.hp2
NA18984.hp2
 intron_variant MODIFIER c.1404-298C>T
c.1404-298C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 7/8 chr3 129402877
chr3:129402884 C
C
 T
T
 1 a0001c0001t0001g0055
a0001c0001t0001g0055
 1 NA19067.hp1
NA19067.hp1
 intron_variant MODIFIER c.1404-305G>A
c.1404-305G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 7/8 chr3 129402884
chr3:129402972 A
A
 G
G
 86 a0001c0001t0001g0037
a0001c0001t0001g0184
a0001c0001t0003g0253
others(83): Show 
a0001c0001t0001g0037
a0001c0001t0001g0184
a0001c0001t0003g0253
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0238
a0002c0016t0001g0120
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0005c0006t0002g0204
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
a0013c0014t0001g0102
a0013c0014t0001g0122
a0014c0023t0004g0243
a0016c0017t0001g0121
a0018c0021t0001g0133
 135 HG00140.hp1
HG00408.hp1
HG00544.hp1
others(132): Show 
HG00140.hp1
HG00408.hp1
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp2
HG02027.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03654.hp1
HG03688.hp2
HG03710.hp1
HG03927.hp1
HG03927.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1404-393T>C
c.1404-393T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 7/8 chr3 129402972
chr3:129403033 G
G
 A
A
 7 a0001c0001t0001g0111
a0001c0001t0001g0177
a0001c0001t0001g0178
others(4): Show 
a0001c0001t0001g0111
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0019
 9 HG02559.hp1
HG02647.hp2
HG02717.hp2
others(6): Show 
HG02559.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02886.hp1
HG03098.hp2
HG03579.hp1
HG03579.hp2
NA18522.hp2
 intron_variant MODIFIER c.1404-454C>T
c.1404-454C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 7/8 chr3 129403033
chr3:129403038 C
C
 T
T
 1 a0008c0009t0001g0049
a0008c0009t0001g0049
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1404-459G>A
c.1404-459G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 7/8 chr3 129403038
chr3:129403186 C
C
 T
T
 18 a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0208
others(15): Show 
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
 25 HG00408.hp1
HG00621.hp2
HG00642.hp1
others(22): Show 
HG00408.hp1
HG00621.hp2
HG00642.hp1
HG01070.hp1
HG01071.hp1
HG01168.hp1
HG01192.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01891.hp1
HG02451.hp1
HG02809.hp1
HG02886.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03688.hp2
HG03927.hp2
HG04204.hp1
NA18906.hp2
NA19060.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1404-607G>A
c.1404-607G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 7/8 chr3 129403186
chr3:129403225 C
C
 T
T
 1 a0001c0001t0001g0071
a0001c0001t0001g0071
 1 NA18984.hp2
NA18984.hp2
 intron_variant MODIFIER c.1404-646G>A
c.1404-646G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 7/8 chr3 129403225
chr3:129403383 G
G
 A
A
 5 a0009c0010t0001g0107
a0009c0010t0001g0152
a0009c0010t0001g0154
others(2): Show 
a0009c0010t0001g0107
a0009c0010t0001g0152
a0009c0010t0001g0154
a0009c0010t0001g0155
a0009c0010t0001g0157
 5 HG01109.hp2
HG03209.hp1
HG03225.hp1
others(2): Show 
HG01109.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
NA19030.hp1
 intron_variant MODIFIER c.1404-804C>T
c.1404-804C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 7/8 chr3 129403383
chr3:129403449 A
A
 G
G
 159 a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0037
others(156): Show 
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0184
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0040
a0001c0001t0003g0252
a0001c0007t0001g0112
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0001c0018t0001g0161
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0003c0003t0002g0006
a0003c0003t0002g0017
a0003c0003t0002g0018
a0003c0003t0002g0036
a0003c0003t0002g0099
a0003c0003t0002g0100
a0003c0003t0002g0110
a0003c0003t0002g0156
a0003c0003t0002g0168
a0003c0003t0002g0169
a0003c0003t0002g0170
a0003c0003t0002g0171
a0003c0003t0002g0172
a0003c0003t0002g0173
a0003c0003t0002g0174
a0003c0003t0002g0175
a0003c0003t0002g0176
a0003c0003t0002g0179
a0003c0003t0002g0189
a0003c0003t0002g0190
a0003c0003t0002g0191
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0044
a0004c0004t0001g0046
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
a0012c0012t0001g0181
a0012c0012t0001g0182
a0013c0014t0001g0102
a0013c0014t0001g0122
a0014c0023t0004g0243
a0015c0022t0002g0196
a0016c0017t0001g0121
a0017c0019t0001g0151
a0018c0021t0001g0133
 230 HG00140.hp1
HG00408.hp1
HG00423.hp1
others(227): Show 
HG00140.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1403+801T>C
c.1403+801T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 7/8 chr3 129403449
chr3:129403484 C
C
 T
T
 10 a0001c0001t0001g0037
a0001c0001t0001g0184
a0006c0005t0001g0004
others(7): Show 
a0001c0001t0001g0037
a0001c0001t0001g0184
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0011c0013t0001g0033
 20 HG00738.hp2
HG01167.hp2
HG01169.hp2
others(17): Show 
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01346.hp1
HG02109.hp2
HG02258.hp1
HG02451.hp2
HG02486.hp2
HG02630.hp2
HG02717.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03453.hp2
NA18906.hp1
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.1403+766G>A
c.1403+766G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 7/8 chr3 129403484
chr3:129403656 C
C
 T
T
 1 a0003c0003t0002g0169
a0003c0003t0002g0169
 1 NA18966.hp2
NA18966.hp2
 intron_variant MODIFIER c.1403+594G>A
c.1403+594G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 7/8 chr3 129403656
chr3:129403669 C
C
 T
T
 5 a0009c0010t0001g0107
a0009c0010t0001g0152
a0009c0010t0001g0154
others(2): Show 
a0009c0010t0001g0107
a0009c0010t0001g0152
a0009c0010t0001g0154
a0009c0010t0001g0155
a0009c0010t0001g0157
 5 HG01109.hp2
HG03209.hp1
HG03225.hp1
others(2): Show 
HG01109.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
NA19030.hp1
 intron_variant MODIFIER c.1403+581G>A
c.1403+581G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 7/8 chr3 129403669
chr3:129403770 G
G
 T
T
 1 a0002c0002t0001g0135
a0002c0002t0001g0135
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.1403+480C>A
c.1403+480C>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 7/8 chr3 129403770
chr3:129403799 C
C
 A
A
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0044
a0004c0004t0001g0046
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.1403+451G>T
c.1403+451G>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 7/8 chr3 129403799
chr3:129403834 G
G
 T
T
 1 a0003c0003t0002g0175
a0003c0003t0002g0175
 1 NA19079.hp1
NA19079.hp1
 intron_variant MODIFIER c.1403+416C>A
c.1403+416C>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 7/8 chr3 129403834
chr3:129403855 C
C
 T
T
 8 a0005c0006t0001g0206
a0005c0006t0002g0193
a0005c0006t0002g0197
others(5): Show 
a0005c0006t0001g0206
a0005c0006t0002g0193
a0005c0006t0002g0197
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
 8 HG02083.hp2
HG02135.hp2
HG03491.hp1
others(5): Show 
HG02083.hp2
HG02135.hp2
HG03491.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
NA18952.hp2
NA20905.hp1
 intron_variant MODIFIER c.1403+395G>A
c.1403+395G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 7/8 chr3 129403855
chr3:129404208 G
G
 A
A
 3 a0001c0001t0003g0247
a0001c0001t0003g0250
a0002c0002t0001g0138
a0001c0001t0003g0247
a0001c0001t0003g0250
a0002c0002t0001g0138
 3 HG02735.hp1
NA19002.hp1
NA20300.hp2
HG02735.hp1
NA19002.hp1
NA20300.hp2
 intron_variant MODIFIER c.1403+42C>T
c.1403+42C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 7/8 chr3 129404208
chr3:129404484 G
G
 GT
GT
 61 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(58): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0003c0003t0002g0189
a0004c0004t0001g0044
a0004c0004t0001g0046
a0010c0011t0001g0209
a0010c0011t0001g0210
a0016c0017t0001g0121
a0017c0019t0001g0151
a0018c0021t0001g0133
 96 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(93): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG03041.hp2
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.1250-82dupA
c.1250-82dupA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129404484
chr3:129404496 T
T
 TTTAATTC
others(2487): Show 
TTTAATTCACATTTTTTTTTTTTTTTTTCTAGATAAATTCTTTTATTTTA
TTTTGTGATATTTTATTTTATTTTTTTGTAGAGGTGGGGTCTCCCTATGT
TGTCCAGGCTGGGCTCTGACTCTTGGGCTCAAACGATCCTCTCATCTCGG
CCTTCTAAGGTGCTGGGTTTATGCGTGAACCGCCATGCCCCCGACTTATC
CAGGTCAATTCTATCAGCATCCTCTTGCTTTCTCTGAGAGCATTTGAATT
TCCTCTTTTTTTTTTTTTTTAATTTATTTTTTTATTGATAATTCTTGGGT
GTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGA
AGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGA
GGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAG
GGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAA
CAAAGCACATCTTGCACCGCCCTCAATCCATTTAACCCTGAGTGGACACA
GCACATGTTTCAGAGAGCACAGGGTTGGGGGCAAGGTCACAGATCAACAG
GATCCCAAGGCAGAGAAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCT
CCCATGTCTACTTCTTTCTACACAGACAGGGCAACCATCCGATTTCTCAG
TCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAAGCCGCCATTGTCA
TCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGACGGGGTGG
TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAG
GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT
CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG
GGGAGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC
GGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACG
GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG
GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG
GCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG
GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG
GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG
CCGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG
CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC
AGACGGGGAGGCTGGCCGGGCGGAGGGCTGACCCCCCAACCTCCCTCCCG
GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG
ACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGG
ACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGG
CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGACGGCATGGCTGGCCAGGCGGGG
GGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGCGG
GGCTGACCCCCCACCTCCCTCCCTGATGGGGCGGCTGGCCGGGCGGGAGG
CTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGAC
GCTCCTCACTTCCCAGATGGGGTGGCTGCCGGGTGGAGAGGCTCCTCACT
TCTCAGACGGGGCAGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGG
GGCGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGG
CAGAGACGCTCCTCACCTCCCAGACGGGGTCTCGGCCGGGCAGAGGCGCT
CCTCACATCCCAGATGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAG
ACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCG
GCTGGGAAGAGGCGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGCGGA
GACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACA
TCCCAGACGATGGGCGGCCAGGCAGAAACACTCCTCACTTCCCAGACGGG
GTGGCAGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCCAAGGCC
GGCGGCTGCTCCTTGCCCTCGGGCCCCGCGGGGCCCGTCCGCTCCTCCAG
CCGCTGCCTCCCGGGCGGCGCTCGCCGGCGCGGCGGCAAAGACTC
 1 a0005c0006t0002g0195
a0005c0006t0002g0195
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1250-94_1250-93ins
others(2494): Show 
c.1250-94_1250-93insGAGTCTTTGCCGCCGCGCCGGCGAGCGCCG
CCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGGG
CAAGGAGCAGCCGCCGGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCT
CTGCCCGGCTGCCACCCCGTCTGGGAAGTGAGGAGTGTTTCTGCCTGGCC
GCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGG
AAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGA
GCGCCTCTTCCCAGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGC
CCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCC
ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGAGACCCCGTCTGGGAGG
TGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTC
TGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAG
CTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCACCCGGCAGCCACCCCATC
TGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAG
GTGGGGGGGGGTCAGCCTCCCGCCCGGCCAGCCGCCCCATCAGGGAGGGA
GGTGGGGGGTCAGCCCCGCCGCCCGGCCAGCCGTGCCATCCGGGAGGGAG
GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCATGCCGTCCGGGAGGGAGG
TGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGG
GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCC
GGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCC
GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG
GCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCAGCCCTCCGCCCGG
CCAGCCTCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA
CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG
AGGTGGGGAGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA
GGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG
GTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG
TGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG
AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGC
CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCG
CCCGGCCAGCCTCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGC
CCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATT
GAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGA
AAGGTGGGGAAAAGACTGAGAAATCGGATGGTTGCCCTGTCTGTGTAGAA
AGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTT
CTCTGCCTTGGGATCCTGTTGATCTGTGACCTTGCCCCCAACCCTGTGCT
CTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTGAGGGCGGT
GCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAG
AGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGCGG
AAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTG
TTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCC
CCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTAAAAA
AAAAAAAAAAGAGGAAATTCAAATGCTCTCAGAGAAAGCAAGAGGATGCT
GATAGAATTGACCTGGATAAGTCGGGGGCATGGCGGTTCACGCATAAACC
CAGCACCTTAGAAGGCCGAGATGAGAGGATCGTTTGAGCCCAAGAGTCAG
AGCCCAGCCTGGACAACATAGGGAGACCCCACCTCTACAAAAAAATAAAA
TAAAATATCACAAAATAAAATAAAAGAATTTATCTAGAAAAAAAAAAAAA
AAAATGTGAATTAA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129404496
chr3:129404496 T
T
 TTTAATTC
others(2493): Show 
TTTAATTCACATTTTTTTTTTTTTTTTTTTTTTTCTAGATAAATTCTTTT
ATTTTATTTTGTGATATTTTATTTTATTTTTTTGTAGAGGTGGGGTCTCC
CTATGTTGTCCAGGCTGGGCTCTGACTCTTGGGCTCAAACGATCCTCTCA
TCTCGGCCTTCTAAGGTGCTGGGTTTATGCGTGAACCGCCATGCCCCCGA
CTTATCCAGGTCAATTCTATCAGCATCCTCTTGCTTTCTCTGAGAGCATT
TGAATTTCCTCTTTTTTTTTTTTTTTAATTTATTTTTTTATTGATAATTC
TTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTG
GAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTA
GGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGA
GATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCT
GTTTAACAAAGCACATCTTGCACCGCCCTCAATCCATTTAACCCTGAGTG
GACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGCAAGGTCACAGAT
CAACAGGATCCCAAGGCAGAGAAATTTTTCTTAGTGCAGAACAAAATGAA
AAGTCTCCCATGTCTACTTCTTTCTACACAGACAGGGCAACCATCCGATT
TCTCAGTCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAAGCCGCCA
TTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGACG
GGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAG
GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGG
CTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG
GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC
CGGACGGGGAGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTC
CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG
CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC
GGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG
GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG
CGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
GGGGGGCCGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA
CCTCCCAGACGGGGAGGCTGGCCGGGCGGAGGGCTGACCCCCCAACCTCC
CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC
TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCC
TCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAG
GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCA
GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCATGGCTGGCCAG
GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGG
CGGCGGGGCTGACCCCCCACCTCCCTCCCTGATGGGGCGGCTGGCCGGGC
GGGAGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGC
GGAGACGCTCCTCACTTCCCAGATGGGGTGGCTGCCGGGTGGAGAGGCTC
CTCACTTCTCAGACGGGGCAGCTGCCGGGCGGAGGGGCTCCTCACTTCTC
AGACGGGGCGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGACGGGGCG
GCCGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCTCGGCCGGGCAGA
GGCGCTCCTCACATCCCAGATGGGGCGGCGGGGCAGAGGCGCTCCCCACA
TCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTG
ATGGCGGCTGGGAAGAGGCGCTCCTCACTTCCTAGATGGGATGGCGGCCG
GGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTC
CTCACATCCCAGACGATGGGCGGCCAGGCAGAAACACTCCTCACTTCCCA
GACGGGGTGGCAGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCC
AAGGCCGGCGGCTGCTCCTTGCCCTCGGGCCCCGCGGGGCCCGTCCGCTC
CTCCAGCCGCTGCCTCCCGGGCGGCGCTCGCCGGCGCGGCGGCAAAGACT
C
 2 a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0006t0002g0207
a0005c0015t0001g0199
 2 HG02083.hp2
NA20905.hp1
HG02083.hp2
NA20905.hp1
 intron_variant MODIFIER c.1250-94_1250-93ins
others(2500): Show 
c.1250-94_1250-93insGAGTCTTTGCCGCCGCGCCGGCGAGCGCCG
CCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGGG
CAAGGAGCAGCCGCCGGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCT
CTGCCCGGCTGCCACCCCGTCTGGGAAGTGAGGAGTGTTTCTGCCTGGCC
GCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGG
AAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGA
GCGCCTCTTCCCAGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGC
CCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCC
ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGAGACCCCGTCTGGGAGG
TGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTC
TGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAG
CTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCACCCGGCAGCCACCCCATC
TGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAG
GTGGGGGGGGGTCAGCCTCCCGCCCGGCCAGCCGCCCCATCAGGGAGGGA
GGTGGGGGGTCAGCCCCGCCGCCCGGCCAGCCGTGCCATCCGGGAGGGAG
GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCATGCCGTCCGGGAGGGAGG
TGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGG
GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCC
GGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCC
GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG
GCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCAGCCCTCCGCCCGG
CCAGCCTCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA
CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG
AGGTGGGGAGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA
GGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG
GTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG
TGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG
AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGC
CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCG
CCCGGCCAGCCTCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGC
CCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATT
GAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGA
AAGGTGGGGAAAAGACTGAGAAATCGGATGGTTGCCCTGTCTGTGTAGAA
AGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTT
CTCTGCCTTGGGATCCTGTTGATCTGTGACCTTGCCCCCAACCCTGTGCT
CTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTGAGGGCGGT
GCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAG
AGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGCGG
AAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTG
TTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCC
CCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTAAAAA
AAAAAAAAAAGAGGAAATTCAAATGCTCTCAGAGAAAGCAAGAGGATGCT
GATAGAATTGACCTGGATAAGTCGGGGGCATGGCGGTTCACGCATAAACC
CAGCACCTTAGAAGGCCGAGATGAGAGGATCGTTTGAGCCCAAGAGTCAG
AGCCCAGCCTGGACAACATAGGGAGACCCCACCTCTACAAAAAAATAAAA
TAAAATATCACAAAATAAAATAAAAGAATTTATCTAGAAAAAAAAAAAAA
AAAAAAAAAATGTGAATTAA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129404496
chr3:129404496 T
T
 TTTAATTC
others(2494): Show 
TTTAATTCACATTTTTTTTTTTTTTTTTTTTTTTTCTAGATAAATTCTTT
TATTTTATTTTGTGATATTTTATTTTATTTTTTTGTAGAGGTGGGGTCTC
CCTATGTTGTCCAGGCTGGGCTCTGACTCTTGGGCTCAAACGATCCTCTC
ATCTCGGCCTTCTAAGGTGCTGGGTTTATGCGTGAACCGCCATGCCCCCG
ACTTATCCAGGTCAATTCTATCAGCATCCTCTTGCTTTCTCTGAGAGCAT
TTGAATTTCCTCTTTTTTTTTTTTTTTAATTTATTTTTTTATTGATAATT
CTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGT
GGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCT
AGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTG
AGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATC
TGTTTAACAAAGCACATCTTGCACCGCCCTCAATCCATTTAACCCTGAGT
GGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGCAAGGTCACAGA
TCAACAGGATCCCAAGGCAGAGAAATTTTTCTTAGTGCAGAACAAAATGA
AAAGTCTCCCATGTCTACTTCTTTCTACACAGACAGGGCAACCATCCGAT
TTCTCAGTCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAAGCCGCC
ATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGAC
GGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCA
GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG
GCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC
CCGGACGGGGAGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCT
CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTC
CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG
GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG
CGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG
GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG
GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG
CGGGGGGCCGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC
ACCTCCCAGACGGGGAGGCTGGCCGGGCGGAGGGCTGACCCCCCAACCTC
CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC
CTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCC
CTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTA
GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC
AGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCATGGCTGGCCA
GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGG
GCGGCGGGGCTGACCCCCCACCTCCCTCCCTGATGGGGCGGCTGGCCGGG
CGGGAGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGG
CGGAGACGCTCCTCACTTCCCAGATGGGGTGGCTGCCGGGTGGAGAGGCT
CCTCACTTCTCAGACGGGGCAGCTGCCGGGCGGAGGGGCTCCTCACTTCT
CAGACGGGGCGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGACGGGGC
GGCCGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCTCGGCCGGGCAG
AGGCGCTCCTCACATCCCAGATGGGGCGGCGGGGCAGAGGCGCTCCCCAC
ATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGT
GATGGCGGCTGGGAAGAGGCGCTCCTCACTTCCTAGATGGGATGGCGGCC
GGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCT
CCTCACATCCCAGACGATGGGCGGCCAGGCAGAAACACTCCTCACTTCCC
AGACGGGGTGGCAGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGC
CAAGGCCGGCGGCTGCTCCTTGCCCTCGGGCCCCGCGGGGCCCGTCCGCT
CCTCCAGCCGCTGCCTCCCGGGCGGCGCTCGCCGGCGCGGCGGCAAAGAC
TC
 4 a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0202
others(1): Show 
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0202
a0005c0015t0002g0198
 4 HG03491.hp1
HG03834.hp1
HG03942.hp1
others(1): Show 
HG03491.hp1
HG03834.hp1
HG03942.hp1
NA19240.hp1
 intron_variant MODIFIER c.1250-94_1250-93ins
others(2501): Show 
c.1250-94_1250-93insGAGTCTTTGCCGCCGCGCCGGCGAGCGCCG
CCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGGG
CAAGGAGCAGCCGCCGGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCT
CTGCCCGGCTGCCACCCCGTCTGGGAAGTGAGGAGTGTTTCTGCCTGGCC
GCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGG
AAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGA
GCGCCTCTTCCCAGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGC
CCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCC
ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGAGACCCCGTCTGGGAGG
TGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTC
TGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAG
CTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCACCCGGCAGCCACCCCATC
TGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAG
GTGGGGGGGGGTCAGCCTCCCGCCCGGCCAGCCGCCCCATCAGGGAGGGA
GGTGGGGGGTCAGCCCCGCCGCCCGGCCAGCCGTGCCATCCGGGAGGGAG
GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCATGCCGTCCGGGAGGGAGG
TGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGG
GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCC
GGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCC
GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG
GCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCAGCCCTCCGCCCGG
CCAGCCTCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA
CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG
AGGTGGGGAGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA
GGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG
GTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG
TGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG
AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGC
CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCG
CCCGGCCAGCCTCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGC
CCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATT
GAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGA
AAGGTGGGGAAAAGACTGAGAAATCGGATGGTTGCCCTGTCTGTGTAGAA
AGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTT
CTCTGCCTTGGGATCCTGTTGATCTGTGACCTTGCCCCCAACCCTGTGCT
CTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTGAGGGCGGT
GCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAG
AGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGCGG
AAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTG
TTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCC
CCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTAAAAA
AAAAAAAAAAGAGGAAATTCAAATGCTCTCAGAGAAAGCAAGAGGATGCT
GATAGAATTGACCTGGATAAGTCGGGGGCATGGCGGTTCACGCATAAACC
CAGCACCTTAGAAGGCCGAGATGAGAGGATCGTTTGAGCCCAAGAGTCAG
AGCCCAGCCTGGACAACATAGGGAGACCCCACCTCTACAAAAAAATAAAA
TAAAATATCACAAAATAAAATAAAAGAATTTATCTAGAAAAAAAAAAAAA
AAAAAAAAAAATGTGAATTAA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129404496
chr3:129404496 T
T
 TTTAATTC
others(2495): Show 
TTTAATTCACATTTTTTTTTTTTTTTTTTTTTTTTTCTAGATAAATTCTT
TTATTTTATTTTGTGATATTTTATTTTATTTTTTTGTAGAGGTGGGGTCT
CCCTATGTTGTCCAGGCTGGGCTCTGACTCTTGGGCTCAAACGATCCTCT
CATCTCGGCCTTCTAAGGTGCTGGGTTTATGCGTGAACCGCCATGCCCCC
GACTTATCCAGGTCAATTCTATCAGCATCCTCTTGCTTTCTCTGAGAGCA
TTTGAATTTCCTCTTTTTTTTTTTTTTTAATTTATTTTTTTATTGATAAT
TCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAG
TGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCC
TAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTT
GAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCAT
CTGTTTAACAAAGCACATCTTGCACCGCCCTCAATCCATTTAACCCTGAG
TGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGCAAGGTCACAG
ATCAACAGGATCCCAAGGCAGAGAAATTTTTCTTAGTGCAGAACAAAATG
AAAAGTCTCCCATGTCTACTTCTTTCTACACAGACAGGGCAACCATCCGA
TTTCTCAGTCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAAGCCGC
CATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGA
CGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC
AGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG
GGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG
GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT
CCCGGACGGGGAGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCC
TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCT
CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG
GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGG
GCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG
GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG
GCGGGGGGCCGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG
CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT
CACCTCCCAGACGGGGAGGCTGGCCGGGCGGAGGGCTGACCCCCCAACCT
CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC
CCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTC
CCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGT
AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC
CAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCATGGCTGGCC
AGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCG
GGCGGCGGGGCTGACCCCCCACCTCCCTCCCTGATGGGGCGGCTGGCCGG
GCGGGAGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGG
GCGGAGACGCTCCTCACTTCCCAGATGGGGTGGCTGCCGGGTGGAGAGGC
TCCTCACTTCTCAGACGGGGCAGCTGCCGGGCGGAGGGGCTCCTCACTTC
TCAGACGGGGCGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGACGGGG
CGGCCGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCTCGGCCGGGCA
GAGGCGCTCCTCACATCCCAGATGGGGCGGCGGGGCAGAGGCGCTCCCCA
CATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATG
TGATGGCGGCTGGGAAGAGGCGCTCCTCACTTCCTAGATGGGATGGCGGC
CGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGC
TCCTCACATCCCAGACGATGGGCGGCCAGGCAGAAACACTCCTCACTTCC
CAGACGGGGTGGCAGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGG
CCAAGGCCGGCGGCTGCTCCTTGCCCTCGGGCCCCGCGGGGCCCGTCCGC
TCCTCCAGCCGCTGCCTCCCGGGCGGCGCTCGCCGGCGCGGCGGCAAAGA
CTC
 1 a0005c0006t0001g0206
a0005c0006t0001g0206
 1 NA18952.hp2
NA18952.hp2
 intron_variant MODIFIER c.1250-94_1250-93ins
others(2502): Show 
c.1250-94_1250-93insGAGTCTTTGCCGCCGCGCCGGCGAGCGCCG
CCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGGG
CAAGGAGCAGCCGCCGGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCT
CTGCCCGGCTGCCACCCCGTCTGGGAAGTGAGGAGTGTTTCTGCCTGGCC
GCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGG
AAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGA
GCGCCTCTTCCCAGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGC
CCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCC
ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGAGACCCCGTCTGGGAGG
TGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTC
TGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAG
CTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCACCCGGCAGCCACCCCATC
TGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAG
GTGGGGGGGGGTCAGCCTCCCGCCCGGCCAGCCGCCCCATCAGGGAGGGA
GGTGGGGGGTCAGCCCCGCCGCCCGGCCAGCCGTGCCATCCGGGAGGGAG
GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCATGCCGTCCGGGAGGGAGG
TGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGG
GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCC
GGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCC
GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG
GCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCAGCCCTCCGCCCGG
CCAGCCTCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA
CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG
AGGTGGGGAGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA
GGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG
GTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG
TGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG
AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGC
CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCG
CCCGGCCAGCCTCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGC
CCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATT
GAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGA
AAGGTGGGGAAAAGACTGAGAAATCGGATGGTTGCCCTGTCTGTGTAGAA
AGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTT
CTCTGCCTTGGGATCCTGTTGATCTGTGACCTTGCCCCCAACCCTGTGCT
CTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTGAGGGCGGT
GCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAG
AGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGCGG
AAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTG
TTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCC
CCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTAAAAA
AAAAAAAAAAGAGGAAATTCAAATGCTCTCAGAGAAAGCAAGAGGATGCT
GATAGAATTGACCTGGATAAGTCGGGGGCATGGCGGTTCACGCATAAACC
CAGCACCTTAGAAGGCCGAGATGAGAGGATCGTTTGAGCCCAAGAGTCAG
AGCCCAGCCTGGACAACATAGGGAGACCCCACCTCTACAAAAAAATAAAA
TAAAATATCACAAAATAAAATAAAAGAATTTATCTAGAAAAAAAAAAAAA
AAAAAAAAAAAATGTGAATTAA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129404496
chr3:129404496 T
T
 TTTAATTC
others(2499): Show 
TTTAATTCACATTTTTTTTTTTTTTTTTTTTTTTTTCTAGATAAATTCTT
TTATTTTATTTTGTGATATTTTATTTTATTTTTTTGTAGAGGTGGGGTCT
CCCTATGTTGTCCAGGCTGGGCTCTGACTCTTGGGCTCAAACGATCCTCT
CATCTCGGCCTTCTAAGGTGCTGGGTTTATGCGTGAACCGCCATGCCCCC
GACTTATCCAGGTCAATTCTATCAGCATCCTCTTGCTTTCTCTGAGAGCA
TTTGAATTTCCTCTTTTTTTTTTTTTTTAATTTATTTTTTTATTGATAAT
TCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAG
TGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCC
TAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTT
GAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCAT
CTGTTTAACAAAGCACATCTTGCACCGCCCTCAATCCATTTAACCCTGAG
TGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGCAAGGTCACAG
ATCAACAGGATCCCAAGGCAGAGAAATTTTTCTTAGTGCAGAACAAAATG
AAAAGTCTCCCATGTCTACTTCTTTCTACACAGACAGGGCAACCATCCGA
TTTCTCAGTCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAAGCCGC
CATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGA
CGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC
AGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG
GGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG
GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT
CCCGGACGGGGAGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCC
TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCT
CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG
GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGG
GCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCGGGGGGCCGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC
CCTCACCTCCCAGACGGGGAGGCTGGCCGGGCGGAGGGCTGACCCCCCAA
CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCAT
CTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCATGGCTG
GCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGG
CCGGGCGGCGGGGCTGACCCCCCACCTCCCTCCCTGATGGGGCGGCTGGC
CGGGCGGGAGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTG
CCGGGCGGAGACGCTCCTCACTTCCCAGATGGGGTGGCTGCCGGGTGGAG
AGGCTCCTCACTTCTCAGACGGGGCAGCTGCCGGGCGGAGGGGCTCCTCA
CTTCTCAGACGGGGCGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGAC
GGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCTCGGCCG
GGCAGAGGCGCTCCTCACATCCCAGATGGGGCGGCGGGGCAGAGGCGCTC
CCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTA
GATGTGATGGCGGCTGGGAAGAGGCGCTCCTCACTTCCTAGATGGGATGG
CGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAG
GGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAAACACTCCTCAC
TTCCCAGACGGGGTGGCAGCCGGGCAGAGGCTGCAATCTCGGCACTTTGG
GAGGCCAAGGCCGGCGGCTGCTCCTTGCCCTCGGGCCCCGCGGGGCCCGT
CCGCTCCTCCAGCCGCTGCCTCCCGGGCGGCGCTCGCCGGCGCGGCGGCA
AAGACTC
 1 a0005c0006t0002g0201
a0005c0006t0002g0201
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.1250-94_1250-93ins
others(2506): Show 
c.1250-94_1250-93insGAGTCTTTGCCGCCGCGCCGGCGAGCGCCG
CCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGGG
CAAGGAGCAGCCGCCGGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCT
CTGCCCGGCTGCCACCCCGTCTGGGAAGTGAGGAGTGTTTCTGCCTGGCC
GCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGG
AAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGA
GCGCCTCTTCCCAGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGC
CCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCC
ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGAGACCCCGTCTGGGAGG
TGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTC
TGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAG
CTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCACCCGGCAGCCACCCCATC
TGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAG
GTGGGGGGGGGGTCAGCCTCCCGCCCGGCCAGCCGCCCCATCAGGGAGGG
AGGTGGGGGGTCAGCCCCGCCGCCCGGCCAGCCGTGCCATCCGGGAGGGA
GGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCATGCCGTCCGGGAGGGAG
GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAG
GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCC
CGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACC
CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC
GGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCAGCCCTCCGCCCG
GCCAGCCTCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT
ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGAGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG
AGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG
AGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG
AGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA
GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC
TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCC
CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC
CCCGCCCGGCCAGCCTCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG
CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCG
TCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAG
GAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCT
CATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGC
GGGAAAGGTGGGGAAAAGACTGAGAAATCGGATGGTTGCCCTGTCTGTGT
AGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAA
ATTTCTCTGCCTTGGGATCCTGTTGATCTGTGACCTTGCCCCCAACCCTG
TGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTGAGGG
CGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGT
TAAGAGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACT
GCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCA
CTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAA
ATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTA
AAAAAAAAAAAAAAGAGGAAATTCAAATGCTCTCAGAGAAAGCAAGAGGA
TGCTGATAGAATTGACCTGGATAAGTCGGGGGCATGGCGGTTCACGCATA
AACCCAGCACCTTAGAAGGCCGAGATGAGAGGATCGTTTGAGCCCAAGAG
TCAGAGCCCAGCCTGGACAACATAGGGAGACCCCACCTCTACAAAAAAAT
AAAATAAAATATCACAAAATAAAATAAAAGAATTTATCTAGAAAAAAAAA
AAAAAAAAAAAAAAAATGTGAATTAA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129404496
chr3:129404496 T
T
 TTTAATTC
others(2500): Show 
TTTAATTCACATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTAGATAAA
TTCTTTTATTTTATTTTGTGATATTTTATTTTATTTTTTTGTAGAGGTGG
GGTCTCCCTATGTTGTCCAGGCTGGGCTCTGACTCTTGGGCTCAAACGAT
CCTCTCATCTCGGCCTTCTAAGGTGCTGGGTTTATGCGTGAACCGCCATG
CCCCCGACTTATCCAGGTCAATTCTATCAGCATCCTCTTGCTTTCTCTGA
GAGCATTTGAATTTCCTCTTTTTTTTTTTTTTTAATTTATTTTTTTATTG
ATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGAC
AATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGT
TTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGAT
TACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCA
AGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTCAATCCATTTAACC
CTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGCAAGGT
CACAGATCAACAGGATCCCAAGGCAGAGAAATTTTTCTTAGTGCAGAACA
AAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACAGGGCAACCA
TCCGATTTCTCAGTCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAA
GCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTC
CCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG
CGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC
GGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG
CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT
CACCTCCCGGACGGGGAGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACC
TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA
GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCCGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG
CCCCTCACCTCCCAGACGGGGAGGCTGGCCGGGCGGAGGGCTGACCCCCC
AACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCC
ATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTC
CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG
CTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCATGGC
TGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCT
GGCCGGGCGGCGGGGCTGACCCCCCACCTCCCTCCCTGATGGGGCGGCTG
GCCGGGCGGGAGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCT
GCCGGGCGGAGACGCTCCTCACTTCCCAGATGGGGTGGCTGCCGGGTGGA
GAGGCTCCTCACTTCTCAGACGGGGCAGCTGCCGGGCGGAGGGGCTCCTC
ACTTCTCAGACGGGGCGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGA
CGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCTCGGCC
GGGCAGAGGCGCTCCTCACATCCCAGATGGGGCGGCGGGGCAGAGGCGCT
CCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCT
AGATGTGATGGCGGCTGGGAAGAGGCGCTCCTCACTTCCTAGATGGGATG
GCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGA
GGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAAACACTCCTCA
CTTCCCAGACGGGGTGGCAGCCGGGCAGAGGCTGCAATCTCGGCACTTTG
GGAGGCCAAGGCCGGCGGCTGCTCCTTGCCCTCGGGCCCCGCGGGGCCCG
TCCGCTCCTCCAGCCGCTGCCTCCCGGGCGGCGCTCGCCGGCGCGGCGGC
AAAGACTC
 3 a0001c0001t0002g0186
a0001c0001t0002g0188
a0005c0006t0002g0020
a0001c0001t0002g0186
a0001c0001t0002g0188
a0005c0006t0002g0020
 5 HG01255.hp2
HG02615.hp2
HG02970.hp1
others(2): Show 
HG01255.hp2
HG02615.hp2
HG02970.hp1
HG02976.hp2
NA18522.hp1
 intron_variant MODIFIER c.1250-94_1250-93ins
others(2507): Show 
c.1250-94_1250-93insGAGTCTTTGCCGCCGCGCCGGCGAGCGCCG
CCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGGG
CAAGGAGCAGCCGCCGGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCT
CTGCCCGGCTGCCACCCCGTCTGGGAAGTGAGGAGTGTTTCTGCCTGGCC
GCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGG
AAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGA
GCGCCTCTTCCCAGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGC
CCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCC
ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGAGACCCCGTCTGGGAGG
TGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTC
TGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAG
CTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCACCCGGCAGCCACCCCATC
TGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAG
GTGGGGGGGGGTCAGCCTCCCGCCCGGCCAGCCGCCCCATCAGGGAGGGA
GGTGGGGGGTCAGCCCCGCCGCCCGGCCAGCCGTGCCATCCGGGAGGGAG
GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCATGCCGTCCGGGAGGGAGG
TGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGG
GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCC
GGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCC
GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG
GCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCAGCCCTCCGCCCGG
CCAGCCTCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA
CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG
AGGTGGGGAGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA
GGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG
GTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG
TGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG
AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGC
CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCG
CCCGGCCAGCCTCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGC
CCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATT
GAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGA
AAGGTGGGGAAAAGACTGAGAAATCGGATGGTTGCCCTGTCTGTGTAGAA
AGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTT
CTCTGCCTTGGGATCCTGTTGATCTGTGACCTTGCCCCCAACCCTGTGCT
CTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTGAGGGCGGT
GCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAG
AGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGCGG
AAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTG
TTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCC
CCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTAAAAA
AAAAAAAAAAGAGGAAATTCAAATGCTCTCAGAGAAAGCAAGAGGATGCT
GATAGAATTGACCTGGATAAGTCGGGGGCATGGCGGTTCACGCATAAACC
CAGCACCTTAGAAGGCCGAGATGAGAGGATCGTTTGAGCCCAAGAGTCAG
AGCCCAGCCTGGACAACATAGGGAGACCCCACCTCTACAAAAAAATAAAA
TAAAATATCACAAAATAAAATAAAAGAATTTATCTAGAAAAAAAAAAAAA
AAAAAAAAAAAAAAAAATGTGAATTAA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129404496
chr3:129404496 T
T
 TTTAATTC
others(2502): Show 
TTTAATTCACATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTAGATAAA
TTCTTTTATTTTATTTTGTGATATTTTATTTTATTTTTTTGTAGAGGTGG
GGTCTCCCTATGTTGTCCAGGCTGGGCTCTGACTCTTGGGCTCAAACGAT
CCTCTCATCTCGGCCTTCTAAGGTGCTGGGTTTATGCGTGAACCGCCATG
CCCCCGACTTATCCAGGTCAATTCTATCAGCATCCTCTTGCTTTCTCTGA
GAGCATTTGAATTTCCTCTTTTTTTTTTTTTTTAATTTATTTTTTTATTG
ATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGAC
AATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGT
TTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGAT
TACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCA
AGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTCAATCCATTTAACC
CTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGCAAGGT
CACAGATCAACAGGATCCCAAGGCAGAGAAATTTTTCTTAGTGCAGAACA
AAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACAGGGCAACCA
TCCGATTTCTCAGTCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAA
GCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTC
CCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG
CGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC
GGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG
CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT
CACCTCCCGGACGGGGAGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACC
TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA
GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCCGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG
CCCCTCACCTCCCAGACGGGGAGGCTGGCCGGGCGGAGGGCTGACCCCCC
AACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCC
CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCC
CATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTT
CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG
GCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCATGG
CTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGC
TGGCCGGGCGGCGGGGCTGACCCCCCACCTCCCTCCCTGATGGGGCGGCT
GGCCGGGCGGGAGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGTGG
CTGCCGGGCGGAGACGCTCCTCACTTCCCAGATGGGGTGGCTGCCGGGTG
GAGAGGCTCCTCACTTCTCAGACGGGGCAGCTGCCGGGCGGAGGGGCTCC
TCACTTCTCAGACGGGGCGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCA
GACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCTCGG
CCGGGCAGAGGCGCTCCTCACATCCCAGATGGGGCGGCGGGGCAGAGGCG
CTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTC
CTAGATGTGATGGCGGCTGGGAAGAGGCGCTCCTCACTTCCTAGATGGGA
TGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCA
GAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAAACACTCCT
CACTTCCCAGACGGGGTGGCAGCCGGGCAGAGGCTGCAATCTCGGCACTT
TGGGAGGCCAAGGCCGGCGGCTGCTCCTTGCCCTCGGGCCCCGCGGGGCC
CGTCCGCTCCTCCAGCCGCTGCCTCCCGGGCGGCGCTCGCCGGCGCGGCG
GCAAAGACTC
 1 a0005c0006t0002g0205
a0005c0006t0002g0205
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.1250-94_1250-93ins
others(2509): Show 
c.1250-94_1250-93insGAGTCTTTGCCGCCGCGCCGGCGAGCGCCG
CCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGGG
CAAGGAGCAGCCGCCGGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCT
CTGCCCGGCTGCCACCCCGTCTGGGAAGTGAGGAGTGTTTCTGCCTGGCC
GCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGG
AAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGA
GCGCCTCTTCCCAGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGC
CCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCC
ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGAGACCCCGTCTGGGAGG
TGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTC
TGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAG
CTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCACCCGGCAGCCACCCCATC
TGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAG
GTGGGGGGGGGGTCAGCCTCCCGCCCGGCCAGCCGCCCCATCAGGGAGGG
AGGTGGGGGGTCAGCCCCGCCGCCCGGCCAGCCGTGCCATCCGGGAGGGA
GGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCATGCCGTCCGGGAGGGAG
GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAG
GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCC
CGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACC
CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCC
CGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCAGCCCTCCGCCC
GGCCAGCCTCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC
TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG
GGAGGTGGGGAGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG
AGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA
GGTGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG
TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
CGCCCGGCCAGCCTCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC
GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTC
CGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGA
GCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCA
TTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGG
GAAAGGTGGGGAAAAGACTGAGAAATCGGATGGTTGCCCTGTCTGTGTAG
AAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAAT
TTCTCTGCCTTGGGATCCTGTTGATCTGTGACCTTGCCCCCAACCCTGTG
CTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTGAGGGCG
GTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTA
AGAGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGC
GGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACT
TGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAAT
CCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTAAA
AAAAAAAAAAAAGAGGAAATTCAAATGCTCTCAGAGAAAGCAAGAGGATG
CTGATAGAATTGACCTGGATAAGTCGGGGGCATGGCGGTTCACGCATAAA
CCCAGCACCTTAGAAGGCCGAGATGAGAGGATCGTTTGAGCCCAAGAGTC
AGAGCCCAGCCTGGACAACATAGGGAGACCCCACCTCTACAAAAAAATAA
AATAAAATATCACAAAATAAAATAAAAGAATTTATCTAGAAAAAAAAAAA
AAAAAAAAAAAAAAAAAAATGTGAATTAA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129404496
chr3:129404496 T
T
 TTTAATTC
others(2501): Show 
TTTAATTCACATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTAGATAA
ATTCTTTTATTTTATTTTGTGATATTTTATTTTATTTTTTTGTAGAGGTG
GGGTCTCCCTATGTTGTCCAGGCTGGGCTCTGACTCTTGGGCTCAAACGA
TCCTCTCATCTCGGCCTTCTAAGGTGCTGGGTTTATGCGTGAACCGCCAT
GCCCCCGACTTATCCAGGTCAATTCTATCAGCATCCTCTTGCTTTCTCTG
AGAGCATTTGAATTTCCTCTTTTTTTTTTTTTTTAATTTATTTTTTTATT
GATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGA
CAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGG
TTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGA
TTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTC
AAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTCAATCCATTTAAC
CCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGCAAGG
TCACAGATCAACAGGATCCCAAGGCAGAGAAATTTTTCTTAGTGCAGAAC
AAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACAGGGCAACC
ATCCGATTTCTCAGTCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAA
AGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCT
CCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG
GCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG
CGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG
GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC
TCACCTCCCGGACGGGGAGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGG
CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCCGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC
GCCCCTCACCTCCCAGACGGGGAGGCTGGCCGGGCGGAGGGCTGACCCCC
CAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC
CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCC
CATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTT
CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG
GCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCATGG
CTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGC
TGGCCGGGCGGCGGGGCTGACCCCCCACCTCCCTCCCTGATGGGGCGGCT
GGCCGGGCGGGAGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGC
TGCCGGGCGGAGACGCTCCTCACTTCCCAGATGGGGTGGCTGCCGGGTGG
AGAGGCTCCTCACTTCTCAGACGGGGCAGCTGCCGGGCGGAGGGGCTCCT
CACTTCTCAGACGGGGCGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAG
ACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCTCGGC
CGGGCAGAGGCGCTCCTCACATCCCAGATGGGGCGGCGGGGCAGAGGCGC
TCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCC
TAGATGTGATGGCGGCTGGGAAGAGGCGCTCCTCACTTCCTAGATGGGAT
GGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAG
AGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAAACACTCCTC
ACTTCCCAGACGGGGTGGCAGCCGGGCAGAGGCTGCAATCTCGGCACTTT
GGGAGGCCAAGGCCGGCGGCTGCTCCTTGCCCTCGGGCCCCGCGGGGCCC
GTCCGCTCCTCCAGCCGCTGCCTCCCGGGCGGCGCTCGCCGGCGCGGCGG
CAAAGACTC
 1 a0001c0001t0002g0187
a0001c0001t0002g0187
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1250-94_1250-93ins
others(2508): Show 
c.1250-94_1250-93insGAGTCTTTGCCGCCGCGCCGGCGAGCGCCG
CCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGGG
CAAGGAGCAGCCGCCGGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCT
CTGCCCGGCTGCCACCCCGTCTGGGAAGTGAGGAGTGTTTCTGCCTGGCC
GCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGG
AAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGA
GCGCCTCTTCCCAGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGC
CCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCC
ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGAGACCCCGTCTGGGAGG
TGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTC
TGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAG
CTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCACCCGGCAGCCACCCCATC
TGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAG
GTGGGGGGGGGTCAGCCTCCCGCCCGGCCAGCCGCCCCATCAGGGAGGGA
GGTGGGGGGTCAGCCCCGCCGCCCGGCCAGCCGTGCCATCCGGGAGGGAG
GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCATGCCGTCCGGGAGGGAGG
TGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGG
GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCC
GGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCC
GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG
GCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCAGCCCTCCGCCCGG
CCAGCCTCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA
CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG
AGGTGGGGAGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA
GGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG
GTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG
TGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG
AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGC
CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCG
CCCGGCCAGCCTCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGC
CCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATT
GAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGA
AAGGTGGGGAAAAGACTGAGAAATCGGATGGTTGCCCTGTCTGTGTAGAA
AGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTT
CTCTGCCTTGGGATCCTGTTGATCTGTGACCTTGCCCCCAACCCTGTGCT
CTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTGAGGGCGGT
GCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAG
AGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGCGG
AAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTG
TTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCC
CCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTAAAAA
AAAAAAAAAAGAGGAAATTCAAATGCTCTCAGAGAAAGCAAGAGGATGCT
GATAGAATTGACCTGGATAAGTCGGGGGCATGGCGGTTCACGCATAAACC
CAGCACCTTAGAAGGCCGAGATGAGAGGATCGTTTGAGCCCAAGAGTCAG
AGCCCAGCCTGGACAACATAGGGAGACCCCACCTCTACAAAAAAATAAAA
TAAAATATCACAAAATAAAATAAAAGAATTTATCTAGAAAAAAAAAAAAA
AAAAAAAAAAAAAAAAAATGTGAATTAA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129404496
chr3:129404496 T
T
 TTTAATTC
others(2511): Show 
TTTAATTCACATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTCTAGATAAATTCTTTTATTTTATTTTGTGATATTTTATTTTATTTTTT
TGTAGAGGTGGGGTCTCCCTATGTTGTCCAGGCTGGGCTCTGACTCTTGG
GCTCAAACGATCCTCTCATCTCGGCCTTCTAAGGTGCTGGGTTTATGCGT
GAACCGCCATGCCCCCGACTTATCCAGGTCAATTCTATCAGCATCCTCTT
GCTTTCTCTGAGAGCATTTGAATTTCCTCTTTTTTTTTTTTTTTAATTTA
TTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAG
GGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAA
AGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTT
GTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCA
TGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTCAA
TCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTT
GGGGGCAAGGTCACAGATCAACAGGATCCCAAGGCAGAGAAATTTTTCTT
AGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGA
CAGGGCAACCATCCGATTTCTCAGTCTTTTCCCCACCTTTCCCGCCTTTC
TATTCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTT
GGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTT
CCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG
GCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGC
GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA
GAGGCGCCCCTCACCTCCCGGACGGGGAGGCTGGCCGGGCGGGGGGGCTG
ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG
ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC
CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA
CGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCG
GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG
ACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCCGGGCGGGGGGCCGACCTCCCCACCTCCCTCCCGGAC
GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC
GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGAGGCTGGCCGGGCGGAGG
GCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG
CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG
CTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGG
CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC
GGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG
GACGGCATGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG
ATGGCACGGCTGGCCGGGCGGCGGGGCTGACCCCCCACCTCCCTCCCTGA
TGGGGCGGCTGGCCGGGCGGGAGGCTGACCCCCCCCCACCTCCCTCCCGG
ACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGATGGGGTGGC
TGCCGGGTGGAGAGGCTCCTCACTTCTCAGACGGGGCAGCTGCCGGGCGG
AGGGGCTCCTCACTTCTCAGACGGGGCGGTTGCCAGGCAGAGGGTCTCCT
CACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCAGACG
GGGTCTCGGCCGGGCAGAGGCGCTCCTCACATCCCAGATGGGGCGGCGGG
GCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCT
CCTCACTTCCTAGATGTGATGGCGGCTGGGAAGAGGCGCTCCTCACTTCC
TAGATGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGC
AGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAGA
AACACTCCTCACTTCCCAGACGGGGTGGCAGCCGGGCAGAGGCTGCAATC
TCGGCACTTTGGGAGGCCAAGGCCGGCGGCTGCTCCTTGCCCTCGGGCCC
CGCGGGGCCCGTCCGCTCCTCCAGCCGCTGCCTCCCGGGCGGCGCTCGCC
GGCGCGGCGGCAAAGACTC
 1 a0015c0022t0002g0196
a0015c0022t0002g0196
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1250-94_1250-93ins
others(2518): Show 
c.1250-94_1250-93insGAGTCTTTGCCGCCGCGCCGGCGAGCGCCG
CCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGGG
CAAGGAGCAGCCGCCGGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCT
CTGCCCGGCTGCCACCCCGTCTGGGAAGTGAGGAGTGTTTCTGCCTGGCC
GCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGG
AAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGA
GCGCCTCTTCCCAGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGC
CCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCC
ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGAGACCCCGTCTGGGAGG
TGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTC
TGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAG
CTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCACCCGGCAGCCACCCCATC
TGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAG
GTGGGGGGGGGTCAGCCTCCCGCCCGGCCAGCCGCCCCATCAGGGAGGGA
GGTGGGGGGTCAGCCCCGCCGCCCGGCCAGCCGTGCCATCCGGGAGGGAG
GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCATGCCGTCCGGGAGGGAGG
TGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGG
GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCC
GGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCC
GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG
GCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCAGCCCTCCGCCCGG
CCAGCCTCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA
CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG
AGGTGGGGAGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA
GGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG
GTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG
TGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG
AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGC
CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCG
CCCGGCCAGCCTCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGC
CCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATT
GAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGA
AAGGTGGGGAAAAGACTGAGAAATCGGATGGTTGCCCTGTCTGTGTAGAA
AGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTT
CTCTGCCTTGGGATCCTGTTGATCTGTGACCTTGCCCCCAACCCTGTGCT
CTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTGAGGGCGGT
GCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAG
AGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGCGG
AAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTG
TTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCC
CCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTAAAAA
AAAAAAAAAAGAGGAAATTCAAATGCTCTCAGAGAAAGCAAGAGGATGCT
GATAGAATTGACCTGGATAAGTCGGGGGCATGGCGGTTCACGCATAAACC
CAGCACCTTAGAAGGCCGAGATGAGAGGATCGTTTGAGCCCAAGAGTCAG
AGCCCAGCCTGGACAACATAGGGAGACCCCACCTCTACAAAAAAATAAAA
TAAAATATCACAAAATAAAATAAAAGAATTTATCTAGAAAAAAAAAAAAA
AAAAAAAAAAAAAAAAAAAAAAAAAAAATGTGAATTAA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129404496
chr3:129404496 T
T
 TTTAATTC
others(2520): Show 
TTTAATTCACATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTCTAGATAAATTCTTTTATTTTATTTTGTGATATTTTATT
TTATTTTTTTGTAGAGGTGGGGTCTCCCTATGTTGTCCAGGCTGGGCTCT
GACTCTTGGGCTCAAACGATCCTCTCATCTCGGCCTTCTAAGGTGCTGGG
TTTATGCGTGAACCGCCATGCCCCCGACTTATCCAGGTCAATTCTATCAG
CATCCTCTTGCTTTCTCTGAGAGCATTTGAATTTCCTCTTTTTTTTTTTT
TTTAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGG
ATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACA
AGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCC
GCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCT
TAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCAC
CGCCCTCAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAG
CACAGGGTTGGGGGCAAGGTCACAGATCAACAGGATCCCAAGGCAGAGAA
ATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTT
CTACACAGACAGGGCAACCATCCGATTTCTCAGTCTTTTCCCCACCTTTC
CCGCCTTTCTATTCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAA
TGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGC
TCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCG
GACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCC
GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC
GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGAGGCTGGCCGGGCG
GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
GGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA
CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACC
TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCT
CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC
CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCTCCCCACCTCC
CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA
GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGAGGCTGGCC
GGGCGGAGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCG
GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG
GTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGG
GCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC
TCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACC
TCCCTCCCGGACGGCATGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCT
CCCTCCCGGATGGCACGGCTGGCCGGGCGGCGGGGCTGACCCCCCACCTC
CCTCCCTGATGGGGCGGCTGGCCGGGCGGGAGGCTGACCCCCCCCCACCT
CCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGA
TGGGGTGGCTGCCGGGTGGAGAGGCTCCTCACTTCTCAGACGGGGCAGCT
GCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGTTGCCAGGCAGA
GGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACC
TCCCAGACGGGGTCTCGGCCGGGCAGAGGCGCTCCTCACATCCCAGATGG
GGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGC
AGAGACGCTCCTCACTTCCTAGATGTGATGGCGGCTGGGAAGAGGCGCTC
CTCACTTCCTAGATGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCC
AGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGG
CCAGGCAGAAACACTCCTCACTTCCCAGACGGGGTGGCAGCCGGGCAGAG
GCTGCAATCTCGGCACTTTGGGAGGCCAAGGCCGGCGGCTGCTCCTTGCC
CTCGGGCCCCGCGGGGCCCGTCCGCTCCTCCAGCCGCTGCCTCCCGGGCG
GCGCTCGCCGGCGCGGCGGCAAAGACTC
 1 a0005c0006t0002g0203
a0005c0006t0002g0203
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.1250-94_1250-93ins
others(2527): Show 
c.1250-94_1250-93insGAGTCTTTGCCGCCGCGCCGGCGAGCGCCG
CCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGGG
CAAGGAGCAGCCGCCGGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCT
CTGCCCGGCTGCCACCCCGTCTGGGAAGTGAGGAGTGTTTCTGCCTGGCC
GCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGG
AAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGA
GCGCCTCTTCCCAGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGC
CCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCC
ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGAGACCCCGTCTGGGAGG
TGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTC
TGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAG
CTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCACCCGGCAGCCACCCCATC
TGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAG
GTGGGGGGGGGTCAGCCTCCCGCCCGGCCAGCCGCCCCATCAGGGAGGGA
GGTGGGGGGTCAGCCCCGCCGCCCGGCCAGCCGTGCCATCCGGGAGGGAG
GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCATGCCGTCCGGGAGGGAGG
TGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGG
GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCC
GGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCC
GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG
GCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCAGCCCTCCGCCCGG
CCAGCCTCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA
CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG
AGGTGGGGAGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA
GGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG
GTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG
TGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG
AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGC
CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCG
CCCGGCCAGCCTCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGC
CCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATT
GAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGA
AAGGTGGGGAAAAGACTGAGAAATCGGATGGTTGCCCTGTCTGTGTAGAA
AGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTT
CTCTGCCTTGGGATCCTGTTGATCTGTGACCTTGCCCCCAACCCTGTGCT
CTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTGAGGGCGGT
GCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAG
AGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGCGG
AAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTG
TTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCC
CCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTAAAAA
AAAAAAAAAAGAGGAAATTCAAATGCTCTCAGAGAAAGCAAGAGGATGCT
GATAGAATTGACCTGGATAAGTCGGGGGCATGGCGGTTCACGCATAAACC
CAGCACCTTAGAAGGCCGAGATGAGAGGATCGTTTGAGCCCAAGAGTCAG
AGCCCAGCCTGGACAACATAGGGAGACCCCACCTCTACAAAAAAATAAAA
TAAAATATCACAAAATAAAATAAAAGAATTTATCTAGAAAAAAAAAAAAA
AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATGTGAATTAA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129404496
chr3:129404496 T
T
 TTTAATTC
others(2498): Show 
TTTAATTCACTTTTTTTTTTTTTTTTTTTTTTTTTTCTAGATAAATTCTT
TTATTTTATTTTGTGATATTTTATTTTATTTTTTTGTAGAGGTGGGGTCT
CCCTATGTTGTCCAGGCTGGGCTCTGACTCTTGGGCTCAAACGATCCTCT
CATCTCGGCCTTCTAAGGTGCTGGGTTTATGCGTGAACCGCCATGCCCCC
GACTTATCCAGGTCAATTCTATCAGCATCCTCTTGCTTTCTCTGAGAGCA
TTTGAATTTCCTCTTTTTTTTTTTTTTTAATTTATTTTTTTATTGATAAT
TCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAG
TGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCC
TAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTT
GAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCAT
CTGTTTAACAAAGCACATCTTGCACCGCCCTCAATCCATTTAACCCTGAG
TGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGCAAGGTCACAG
ATCAACAGGATCCCAAGGCAGAGAAATTTTTCTTAGTGCAGAACAAAATG
AAAAGTCTCCCATGTCTACTTCTTTCTACACAGACAGGGCAACCATCCGA
TTTCTCAGTCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAAGCCGC
CATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGA
CGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC
AGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG
GGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG
GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT
CCCGGACGGGGAGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCC
TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCT
CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG
GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGG
GCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG
GGCGGGGGGCCGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG
GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC
TCACCTCCCAGACGGGGAGGCTGGCCGGGCGGAGGGCTGACCCCCCAACC
TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT
CCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCT
CCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAG
TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG
CCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCATGGCTGGC
CAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGCACGGCTGGC
CGGGCGGCGGGGCTGACCCCCCACCTCCCTCCCTGATGGGGCGGCTGGCC
GGGCGGGAGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGC
CGGGCGGAGACGCTCCTCACTTCCCAGATGGGGTGGCTGCCGGGTGGAGA
GGCTCCTCACTTCTCAGACGGGGCAGCTGCCGGGCGGAGGGGCTCCTCAC
TTCTCAGACGGGGCGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGACG
GGGCGGCCGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCTCGGCCGG
GCAGAGGCGCTCCTCACATCCCAGATGGGGCGGCGGGGCAGAGGCGCTCC
CCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAG
ATGTGATGGCGGCTGGGAAGAGGCGCTCCTCACTTCCTAGATGGGATGGC
GGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGG
GGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAAACACTCCTCACT
TCCCAGACGGGGTGGCAGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGG
AGGCCAAGGCCGGCGGCTGCTCCTTGCCCTCGGGCCCCGCGGGGCCCGTC
CGCTCCTCCAGCCGCTGCCTCCTGGGCGGCGCTCGCCGGCGCGGCGGCAA
AGACTC
 1 a0005c0006t0002g0193
a0005c0006t0002g0193
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.1250-94_1250-93ins
others(2505): Show 
c.1250-94_1250-93insGAGTCTTTGCCGCCGCGCCGGCGAGCGCCG
CCCAGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGGG
CAAGGAGCAGCCGCCGGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCT
CTGCCCGGCTGCCACCCCGTCTGGGAAGTGAGGAGTGTTTCTGCCTGGCC
GCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGG
AAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGA
GCGCCTCTTCCCAGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGC
CCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCC
ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGAGACCCCGTCTGGGAGG
TGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTC
TGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAG
CTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCACCCGGCAGCCACCCCATC
TGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAG
GTGGGGGGGGGGTCAGCCTCCCGCCCGGCCAGCCGCCCCATCAGGGAGGG
AGGTGGGGGGTCAGCCCCGCCGCCCGGCCAGCCGTGCCATCCGGGAGGGA
GGTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCATGCCGTCCGGGAGGGA
GGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGA
GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGC
CCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCAC
CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC
CGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCAGCCCTCCGCCC
GGCCAGCCTCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC
TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG
GGAGGTGGGGAGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG
AGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA
GGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG
GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT
CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCC
CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC
CCGCCCGGCCAGCCTCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC
CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGT
CCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGG
AGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTC
ATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCG
GGAAAGGTGGGGAAAAGACTGAGAAATCGGATGGTTGCCCTGTCTGTGTA
GAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAA
TTTCTCTGCCTTGGGATCCTGTTGATCTGTGACCTTGCCCCCAACCCTGT
GCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTGAGGGC
GGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTT
AAGAGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTG
CGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCAC
TTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAA
TCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTAA
AAAAAAAAAAAAAGAGGAAATTCAAATGCTCTCAGAGAAAGCAAGAGGAT
GCTGATAGAATTGACCTGGATAAGTCGGGGGCATGGCGGTTCACGCATAA
ACCCAGCACCTTAGAAGGCCGAGATGAGAGGATCGTTTGAGCCCAAGAGT
CAGAGCCCAGCCTGGACAACATAGGGAGACCCCACCTCTACAAAAAAATA
AAATAAAATATCACAAAATAAAATAAAAGAATTTATCTAGAAAAAAAAAA
AAAAAAAAAAAAAAAAGTGAATTAA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129404496
chr3:129404530 C
C
 G
G
 18 a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
others(15): Show 
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0015c0022t0002g0196
 20 HG01255.hp2
HG02055.hp2
HG02083.hp2
others(17): Show 
HG01255.hp2
HG02055.hp2
HG02083.hp2
HG02135.hp2
HG02559.hp2
HG02615.hp2
HG02970.hp1
HG02976.hp2
HG03453.hp1
HG03491.hp1
HG03516.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
NA18522.hp1
NA18952.hp2
NA19043.hp1
NA19240.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.1250-127G>C
c.1250-127G>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129404530
chr3:129404675 T
T
 A
A
 1 a0002c0002t0001g0128
a0002c0002t0001g0128
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.1250-272A>T
c.1250-272A>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129404675
chr3:129404678 C
C
 G
G
 1 a0004c0004t0001g0215
a0004c0004t0001g0215
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1250-275G>C
c.1250-275G>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129404678
chr3:129404697 G
G
 C
C
 1 a0004c0004t0001g0215
a0004c0004t0001g0215
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1250-294C>G
c.1250-294C>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129404697
chr3:129404960 G
G
 A
A
 1 a0001c0001t0003g0255
a0001c0001t0003g0255
 1 HG01358.hp2
HG01358.hp2
 intron_variant MODIFIER c.1250-557C>T
c.1250-557C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129404960
chr3:129405006 T
T
 G
G
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0044
a0004c0004t0001g0046
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.1250-603A>C
c.1250-603A>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129405006
chr3:129405011 G
G
 T
T
 3 a0001c0001t0001g0101
a0001c0001t0001g0108
a0001c0001t0001g0158
a0001c0001t0001g0101
a0001c0001t0001g0108
a0001c0001t0001g0158
 3 HG02055.hp1
HG02145.hp1
HG03195.hp2
HG02055.hp1
HG02145.hp1
HG03195.hp2
 intron_variant MODIFIER c.1250-608C>A
c.1250-608C>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129405011
chr3:129405017 A
A
 T
T
 157 a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0037
others(154): Show 
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0184
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0007t0001g0112
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0001c0018t0001g0161
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0003c0003t0002g0006
a0003c0003t0002g0017
a0003c0003t0002g0018
a0003c0003t0002g0036
a0003c0003t0002g0099
a0003c0003t0002g0100
a0003c0003t0002g0110
a0003c0003t0002g0156
a0003c0003t0002g0168
a0003c0003t0002g0169
a0003c0003t0002g0170
a0003c0003t0002g0171
a0003c0003t0002g0172
a0003c0003t0002g0173
a0003c0003t0002g0174
a0003c0003t0002g0175
a0003c0003t0002g0176
a0003c0003t0002g0179
a0003c0003t0002g0189
a0003c0003t0002g0190
a0003c0003t0002g0191
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0044
a0004c0004t0001g0046
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
a0012c0012t0001g0181
a0012c0012t0001g0182
a0013c0014t0001g0102
a0013c0014t0001g0122
a0014c0023t0004g0243
a0015c0022t0002g0196
a0016c0017t0001g0121
a0017c0019t0001g0151
a0018c0021t0001g0133
 227 HG00140.hp1
HG00408.hp1
HG00423.hp1
others(224): Show 
HG00140.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1250-614T>A
c.1250-614T>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129405017
chr3:129405111 A
A
 G
G
 98 a0001c0001t0001g0037
a0001c0001t0001g0184
a0001c0007t0001g0212
others(95): Show 
a0001c0001t0001g0037
a0001c0001t0001g0184
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0044
a0004c0004t0001g0046
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 150 HG00140.hp1
HG00408.hp1
HG00544.hp1
others(147): Show 
HG00140.hp1
HG00408.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03688.hp2
HG03710.hp1
HG03927.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1250-708T>C
c.1250-708T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129405111
chr3:129405168 A
A
 G
G
 1 a0001c0001t0001g0183
a0001c0001t0001g0183
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1250-765T>C
c.1250-765T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129405168
chr3:129405231 A
A
 G
G
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0044
a0004c0004t0001g0046
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.1250-828T>C
c.1250-828T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129405231
chr3:129405245 T
T
 C
C
 1 a0014c0023t0004g0243
a0014c0023t0004g0243
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.1250-842A>G
c.1250-842A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129405245
chr3:129405322 G
G
 C
C
 6 a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0233
others(3): Show 
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
 6 HG00140.hp1
HG00738.hp1
HG01175.hp1
others(3): Show 
HG00140.hp1
HG00738.hp1
HG01175.hp1
HG01361.hp2
HG02145.hp2
HG02258.hp2
 intron_variant MODIFIER c.1250-919C>G
c.1250-919C>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129405322
chr3:129405535 AC
AC
 A
A
 38 a0001c0001t0001g0037
a0001c0001t0001g0184
a0001c0007t0001g0212
others(35): Show 
a0001c0001t0001g0037
a0001c0001t0001g0184
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
a0013c0014t0001g0102
a0013c0014t0001g0122
 55 HG00140.hp1
HG00408.hp1
HG00621.hp2
others(52): Show 
HG00140.hp1
HG00408.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02630.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03688.hp2
HG03927.hp2
HG04204.hp1
NA18906.hp1
NA18906.hp2
NA19030.hp2
NA19060.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1250-1133delG
c.1250-1133delG
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129405535
chr3:129405783 T
T
 C
C
 1 a0001c0001t0003g0251
a0001c0001t0003g0251
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.1250-1380A>G
c.1250-1380A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129405783
chr3:129405849 G
G
 A
A
 4 a0002c0002t0001g0125
a0002c0002t0001g0180
a0002c0002t0001g0211
others(1): Show 
a0002c0002t0001g0125
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0238
 4 HG01123.hp2
HG02486.hp1
HG02723.hp1
others(1): Show 
HG01123.hp2
HG02486.hp1
HG02723.hp1
NA19240.hp2
 intron_variant MODIFIER c.1250-1446C>T
c.1250-1446C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129405849
chr3:129406006 A
A
 T
T
 3 a0002c0002t0001g0039
a0002c0002t0001g0227
a0002c0002t0001g0229
a0002c0002t0001g0039
a0002c0002t0001g0227
a0002c0002t0001g0229
 4 HG02015.hp1
NA18950.hp1
NA18999.hp1
others(1): Show 
HG02015.hp1
NA18950.hp1
NA18999.hp1
NA19066.hp1
 intron_variant MODIFIER c.1250-1603T>A
c.1250-1603T>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129406006
chr3:129406048 T
T
 TA
TA
 10 a0001c0001t0001g0072
a0001c0001t0001g0158
a0001c0020t0001g0240
others(7): Show 
a0001c0001t0001g0072
a0001c0001t0001g0158
a0001c0020t0001g0240
a0005c0006t0002g0195
a0005c0006t0002g0200
a0005c0006t0002g0203
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0015c0022t0002g0196
 13 HG02055.hp1
HG02109.hp1
HG02280.hp1
others(10): Show 
HG02055.hp1
HG02109.hp1
HG02280.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02818.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
NA18978.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.1250-1646dupT
c.1250-1646dupT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129406048
chr3:129406048 T
T
 TAAAA
TAAAA
 12 a0002c0002t0001g0039
a0002c0002t0001g0116
a0002c0002t0001g0134
others(9): Show 
a0002c0002t0001g0039
a0002c0002t0001g0116
a0002c0002t0001g0134
a0002c0002t0001g0137
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0002g0226
 13 HG00544.hp2
HG01070.hp2
HG01884.hp2
others(10): Show 
HG00544.hp2
HG01070.hp2
HG01884.hp2
HG02015.hp1
HG02056.hp2
HG04228.hp1
NA18950.hp1
NA18994.hp1
NA18999.hp1
NA19001.hp1
NA19066.hp1
NA19081.hp2
NA21309.hp1
 intron_variant MODIFIER c.1250-1649_1250-164
others(8): Show 
c.1250-1649_1250-1646dupTTTT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129406048
chr3:129406048 T
T
 TAAAAA
TAAAAA
 44 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(41): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0238
a0002c0002t0002g0045
a0004c0004t0001g0044
a0004c0004t0001g0046
a0016c0017t0001g0121
a0018c0021t0001g0133
 76 HG00544.hp1
HG00597.hp1
HG00673.hp2
others(73): Show 
HG00544.hp1
HG00597.hp1
HG00673.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp2
HG02071.hp2
HG02074.hp2
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18995.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19089.hp1
NA19240.hp2
 intron_variant MODIFIER c.1250-1650_1250-164
others(9): Show 
c.1250-1650_1250-1646dupTTTTT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129406048
chr3:129406048 T
T
 TAAAAAA
TAAAAAA
 4 a0002c0002t0001g0016
a0002c0002t0001g0132
a0002c0002t0001g0141
others(1): Show 
a0002c0002t0001g0016
a0002c0002t0001g0132
a0002c0002t0001g0141
a0002c0016t0001g0120
 6 HG00558.hp1
HG01255.hp1
HG02027.hp1
others(3): Show 
HG00558.hp1
HG01255.hp1
HG02027.hp1
HG02129.hp1
NA19084.hp1
NA19090.hp1
 intron_variant MODIFIER c.1250-1651_1250-164
others(10): Show 
c.1250-1651_1250-1646dupTTTTTT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129406048
chr3:129406048 TA
TA
 T
T
 21 a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0060
others(18): Show 
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0060
a0001c0001t0001g0071
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0018t0001g0161
a0004c0004t0001g0215
a0004c0004t0001g0221
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0012c0012t0001g0181
a0012c0012t0001g0182
a0017c0019t0001g0151
 23 HG01069.hp1
HG01071.hp2
HG01515.hp1
others(20): Show 
HG01069.hp1
HG01071.hp2
HG01515.hp1
HG01891.hp1
HG02257.hp1
HG02451.hp1
HG02698.hp1
HG02735.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03942.hp2
NA18906.hp2
NA18952.hp1
NA18955.hp2
NA18956.hp2
NA18973.hp2
NA18984.hp2
NA18992.hp2
NA20805.hp1
 intron_variant MODIFIER c.1250-1646delT
c.1250-1646delT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129406048
chr3:129406141 A
A
 G
G
 1 a0001c0001t0001g0028
a0001c0001t0001g0028
 2 HG01515.hp2
HG01517.hp1
HG01515.hp2
HG01517.hp1
 intron_variant MODIFIER c.1250-1738T>C
c.1250-1738T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129406141
chr3:129406254 G
G
 A
A
 13 a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0039
others(10): Show 
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0002g0045
a0002c0002t0002g0226
 16 HG00544.hp2
HG01884.hp2
HG02015.hp1
others(13): Show 
HG00544.hp2
HG01884.hp2
HG02015.hp1
HG02056.hp2
HG02622.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03516.hp1
HG04228.hp1
NA18950.hp1
NA18999.hp1
NA19066.hp1
NA21309.hp1
 intron_variant MODIFIER c.1250-1851C>T
c.1250-1851C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129406254
chr3:129406388 C
C
 A
A
 38 a0001c0001t0001g0037
a0001c0001t0001g0184
a0001c0007t0001g0212
others(35): Show 
a0001c0001t0001g0037
a0001c0001t0001g0184
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
a0013c0014t0001g0102
a0013c0014t0001g0122
 55 HG00140.hp1
HG00408.hp1
HG00621.hp2
others(52): Show 
HG00140.hp1
HG00408.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02630.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03688.hp2
HG03927.hp2
HG04204.hp1
NA18906.hp1
NA18906.hp2
NA19030.hp2
NA19060.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1250-1985G>T
c.1250-1985G>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129406388
chr3:129406818 G
G
 A
A
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0044
a0004c0004t0001g0046
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.1249+1827C>T
c.1249+1827C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129406818
chr3:129406819 A
A
 G
G
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0044
a0004c0004t0001g0046
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.1249+1826T>C
c.1249+1826T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129406819
chr3:129406866 GT
GT
 G
G
 144 a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0068
others(141): Show 
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0068
a0001c0001t0001g0101
a0001c0001t0001g0108
a0001c0001t0001g0111
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0002g0019
a0001c0007t0001g0112
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0001c0018t0001g0161
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0128
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0003c0003t0002g0006
a0003c0003t0002g0017
a0003c0003t0002g0018
a0003c0003t0002g0036
a0003c0003t0002g0099
a0003c0003t0002g0100
a0003c0003t0002g0110
a0003c0003t0002g0156
a0003c0003t0002g0168
a0003c0003t0002g0169
a0003c0003t0002g0170
a0003c0003t0002g0172
a0003c0003t0002g0173
a0003c0003t0002g0175
a0003c0003t0002g0176
a0003c0003t0002g0179
a0003c0003t0002g0189
a0003c0003t0002g0190
a0003c0003t0002g0191
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0044
a0004c0004t0001g0046
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0006c0005t0001g0004
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0009c0010t0001g0107
a0009c0010t0001g0152
a0009c0010t0001g0154
a0009c0010t0001g0155
a0009c0010t0001g0157
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
a0012c0012t0001g0181
a0012c0012t0001g0182
a0013c0014t0001g0102
a0013c0014t0001g0122
a0014c0023t0004g0243
a0016c0017t0001g0121
a0017c0019t0001g0151
a0018c0021t0001g0133
 213 HG00140.hp1
HG00408.hp1
HG00423.hp1
others(210): Show 
HG00140.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03710.hp1
HG03927.hp2
HG03942.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18966.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1249+1778delA
c.1249+1778delA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129406866
chr3:129406913 T
T
 G
G
 2 a0013c0014t0001g0102
a0013c0014t0001g0122
a0013c0014t0001g0102
a0013c0014t0001g0122
 2 HG02280.hp2
NA19030.hp2
HG02280.hp2
NA19030.hp2
 intron_variant MODIFIER c.1249+1732A>C
c.1249+1732A>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129406913
chr3:129407140 C
C
 T
T
 1 a0014c0023t0004g0243
a0014c0023t0004g0243
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.1249+1505G>A
c.1249+1505G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129407140
chr3:129407381 G
G
 A
A
 1 a0001c0001t0001g0241
a0001c0001t0001g0241
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.1249+1264C>T
c.1249+1264C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129407381
chr3:129407983 C
C
 T
T
 2 a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0070
a0001c0001t0001g0073
 2 HG02074.hp1
NA18960.hp2
HG02074.hp1
NA18960.hp2
 intron_variant MODIFIER c.1249+662G>A
c.1249+662G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129407983
chr3:129408024 C
C
 A
A
 1 a0004c0004t0001g0044
a0004c0004t0001g0044
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1249+621G>T
c.1249+621G>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129408024
chr3:129408030 G
G
 C
C
 166 a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0037
others(163): Show 
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0111
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0002g0019
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0007t0001g0112
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0001c0007t0001g0239
a0001c0018t0001g0161
a0001c0020t0001g0240
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0003c0003t0002g0006
a0003c0003t0002g0017
a0003c0003t0002g0018
a0003c0003t0002g0036
a0003c0003t0002g0099
a0003c0003t0002g0100
a0003c0003t0002g0110
a0003c0003t0002g0156
a0003c0003t0002g0168
a0003c0003t0002g0169
a0003c0003t0002g0170
a0003c0003t0002g0171
a0003c0003t0002g0172
a0003c0003t0002g0173
a0003c0003t0002g0174
a0003c0003t0002g0175
a0003c0003t0002g0176
a0003c0003t0002g0179
a0003c0003t0002g0189
a0003c0003t0002g0190
a0003c0003t0002g0191
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0044
a0004c0004t0001g0046
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
a0012c0012t0001g0181
a0012c0012t0001g0182
a0013c0014t0001g0102
a0013c0014t0001g0122
a0014c0023t0004g0243
a0015c0022t0002g0196
a0016c0017t0001g0121
a0017c0019t0001g0151
a0018c0021t0001g0133
 238 HG00140.hp1
HG00408.hp1
HG00423.hp1
others(235): Show 
HG00140.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.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
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1249+615C>G
c.1249+615C>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129408030
chr3:129408101 G
G
 A
A
 3 a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
 6 HG02109.hp1
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02109.hp1
HG02280.hp1
HG02572.hp2
HG02615.hp1
HG02818.hp2
HG03209.hp2
 intron_variant MODIFIER c.1249+544C>T
c.1249+544C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129408101
chr3:129408132 T
T
 C
C
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0044
a0004c0004t0001g0046
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.1249+513A>G
c.1249+513A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129408132
chr3:129408188 C
C
 T
T
 18 a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0208
others(15): Show 
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
 25 HG00408.hp1
HG00621.hp2
HG00642.hp1
others(22): Show 
HG00408.hp1
HG00621.hp2
HG00642.hp1
HG01070.hp1
HG01071.hp1
HG01168.hp1
HG01192.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01891.hp1
HG02451.hp1
HG02809.hp1
HG02886.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03688.hp2
HG03927.hp2
HG04204.hp1
NA18906.hp2
NA19060.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1249+457G>A
c.1249+457G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129408188
chr3:129408323 C
C
 T
T
 12 a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0160
others(9): Show 
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0018t0001g0161
a0012c0012t0001g0181
a0012c0012t0001g0182
 14 HG01069.hp1
HG01071.hp2
HG01515.hp1
others(11): Show 
HG01069.hp1
HG01071.hp2
HG01515.hp1
HG02257.hp1
HG02698.hp1
HG02735.hp2
HG02922.hp2
HG03041.hp1
HG03942.hp2
NA18952.hp1
NA18956.hp2
NA18973.hp2
NA18992.hp2
NA20805.hp1
 intron_variant MODIFIER c.1249+322G>A
c.1249+322G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129408323
chr3:129408326 G
G
 A
A
 11 a0001c0001t0001g0037
a0001c0001t0001g0184
a0001c0007t0001g0112
others(8): Show 
a0001c0001t0001g0037
a0001c0001t0001g0184
a0001c0007t0001g0112
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0011c0013t0001g0033
 21 HG00738.hp2
HG01167.hp2
HG01169.hp2
others(18): Show 
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01346.hp1
HG02109.hp2
HG02258.hp1
HG02451.hp2
HG02486.hp2
HG02630.hp2
HG02717.hp1
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03453.hp2
NA18906.hp1
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.1249+319C>T
c.1249+319C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129408326
chr3:129408523 A
A
 G
G
 1 a0005c0006t0002g0200
a0005c0006t0002g0200
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.1249+122T>C
c.1249+122T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 6/8 chr3 129408523
chr3:129408863 G
G
 A
A
 1 a0001c0001t0001g0177
a0001c0001t0001g0177
 1 HG03098.hp2
HG03098.hp2
 splice_region_variant&intron_variant LOW c.1036-5C>T
c.1036-5C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129408863
chr3:129408904 C
C
 T
T
 1 a0001c0001t0001g0075
a0001c0001t0001g0075
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.1036-46G>A
c.1036-46G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129408904
chr3:129409113 T
T
 C
C
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0044
a0004c0004t0001g0046
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.1036-255A>G
c.1036-255A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129409113
chr3:129409144 G
G
 A
A
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0044
a0004c0004t0001g0046
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.1036-286C>T
c.1036-286C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129409144
chr3:129409179 A
A
 G
G
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0044
a0004c0004t0001g0046
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.1036-321T>C
c.1036-321T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129409179
chr3:129409248 G
G
 A
A
 1 a0003c0003t0002g0170
a0003c0003t0002g0170
 1 NA19056.hp2
NA19056.hp2
 intron_variant MODIFIER c.1036-390C>T
c.1036-390C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129409248
chr3:129409266 A
A
 G
G
 1 a0001c0001t0003g0248
a0001c0001t0003g0248
 1 HG01256.hp2
HG01256.hp2
 intron_variant MODIFIER c.1036-408T>C
c.1036-408T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129409266
chr3:129409315 C
C
 T
T
 1 a0014c0023t0004g0243
a0014c0023t0004g0243
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.1036-457G>A
c.1036-457G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129409315
chr3:129409687 T
T
 TATAA
TATAA
 59 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(56): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0044
a0004c0004t0001g0046
a0016c0017t0001g0121
a0018c0021t0001g0133
 94 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(91): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.1036-833_1036-830d
others(6): Show 
c.1036-833_1036-830dupTTAT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129409687
chr3:129409788 C
C
 T
T
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0044
a0004c0004t0001g0046
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.1036-930G>A
c.1036-930G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129409788
chr3:129409904 T
T
 C
C
 2 a0012c0012t0001g0181
a0012c0012t0001g0182
a0012c0012t0001g0181
a0012c0012t0001g0182
 2 HG02257.hp1
HG02922.hp2
HG02257.hp1
HG02922.hp2
 intron_variant MODIFIER c.1036-1046A>G
c.1036-1046A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129409904
chr3:129410009 T
T
 A
A
 59 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(56): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0044
a0004c0004t0001g0046
a0016c0017t0001g0121
a0018c0021t0001g0133
 94 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(91): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.1035+1149A>T
c.1035+1149A>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129410009
chr3:129410010 A
A
 AT
AT
 57 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(54): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0044
a0004c0004t0001g0046
a0016c0017t0001g0121
a0018c0021t0001g0133
 92 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(89): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.1035+1147dupA
c.1035+1147dupA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129410010
chr3:129410010 A
A
 T
T
 1 a0002c0002t0001g0134
a0002c0002t0001g0134
 1 NA18994.hp1
NA18994.hp1
 intron_variant MODIFIER c.1035+1148T>A
c.1035+1148T>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129410010
chr3:129410014 A
A
 T
T
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0044
a0004c0004t0001g0046
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.1035+1144T>A
c.1035+1144T>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129410014
chr3:129410018 T
T
 A
A
 7 a0001c0001t0001g0178
a0001c0007t0001g0232
a0001c0007t0001g0237
others(4): Show 
a0001c0001t0001g0178
a0001c0007t0001g0232
a0001c0007t0001g0237
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0014c0023t0004g0243
 10 HG01496.hp1
HG01884.hp1
HG02109.hp1
others(7): Show 
HG01496.hp1
HG01884.hp1
HG02109.hp1
HG02257.hp2
HG02280.hp1
HG02572.hp2
HG02615.hp1
HG02818.hp2
HG03209.hp2
NA18522.hp2
 intron_variant MODIFIER c.1035+1140A>T
c.1035+1140A>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129410018
chr3:129410072 G
G
 A
A
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0044
a0004c0004t0001g0046
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.1035+1086C>T
c.1035+1086C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129410072
chr3:129410115 T
T
 C
C
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0044
a0004c0004t0001g0046
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.1035+1043A>G
c.1035+1043A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129410115
chr3:129410180 A
A
 T
T
 1 a0002c0002t0001g0031
a0002c0002t0001g0031
 2 HG03490.hp1
HG03492.hp1
HG03490.hp1
HG03492.hp1
 intron_variant MODIFIER c.1035+978T>A
c.1035+978T>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129410180
chr3:129410273 T
T
 G
G
 104 a0001c0001t0001g0037
a0001c0001t0001g0184
a0001c0007t0001g0112
others(101): Show 
a0001c0001t0001g0037
a0001c0001t0001g0184
a0001c0007t0001g0112
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0044
a0004c0004t0001g0046
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0005c0006t0002g0204
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
a0013c0014t0001g0102
a0013c0014t0001g0122
a0014c0023t0004g0243
a0016c0017t0001g0121
a0018c0021t0001g0133
 159 HG00140.hp1
HG00408.hp1
HG00544.hp1
others(156): Show 
HG00140.hp1
HG00408.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03688.hp2
HG03710.hp1
HG03927.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1035+885A>C
c.1035+885A>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129410273
chr3:129410318 A
A
 AT
AT
 52 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0070
others(49): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0070
a0001c0001t0001g0073
a0001c0001t0001g0090
a0001c0001t0001g0093
a0001c0001t0001g0183
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0238
a0002c0016t0001g0120
a0016c0017t0001g0121
a0018c0021t0001g0133
 86 HG00544.hp1
HG00558.hp1
HG00597.hp1
others(83): Show 
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01928.hp1
HG01934.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp2
HG02015.hp2
HG02027.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02486.hp1
HG02523.hp1
HG02723.hp1
HG03490.hp1
HG03492.hp1
HG03579.hp2
HG03654.hp1
HG03710.hp1
HG04115.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18951.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
 intron_variant MODIFIER c.1035+839dupA
c.1035+839dupA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129410318
chr3:129410318 A
A
 ATT
ATT
 17 a0001c0001t0001g0069
a0001c0001t0001g0074
a0002c0002t0001g0021
others(14): Show 
a0001c0001t0001g0069
a0001c0001t0001g0074
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0002g0045
a0002c0002t0002g0226
a0004c0004t0001g0044
a0004c0004t0001g0046
 20 HG00544.hp2
HG00558.hp2
HG01884.hp2
others(17): Show 
HG00544.hp2
HG00558.hp2
HG01884.hp2
HG01891.hp2
HG02015.hp1
HG02056.hp2
HG02622.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03516.hp1
HG04228.hp1
NA18942.hp1
NA18950.hp1
NA18999.hp1
NA19043.hp2
NA19066.hp1
NA21309.hp1
 intron_variant MODIFIER c.1035+838_1035+839d
others(4): Show 
c.1035+838_1035+839dupAA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129410318
chr3:129410318 AT
AT
 A
A
 81 a0001c0001t0001g0037
a0001c0001t0001g0184
a0001c0001t0001g0241
others(78): Show 
a0001c0001t0001g0037
a0001c0001t0001g0184
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0040
a0001c0007t0001g0112
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0003c0003t0002g0006
a0003c0003t0002g0017
a0003c0003t0002g0018
a0003c0003t0002g0036
a0003c0003t0002g0099
a0003c0003t0002g0100
a0003c0003t0002g0110
a0003c0003t0002g0156
a0003c0003t0002g0168
a0003c0003t0002g0169
a0003c0003t0002g0170
a0003c0003t0002g0171
a0003c0003t0002g0172
a0003c0003t0002g0173
a0003c0003t0002g0174
a0003c0003t0002g0175
a0003c0003t0002g0176
a0003c0003t0002g0179
a0003c0003t0002g0189
a0003c0003t0002g0190
a0003c0003t0002g0191
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0216
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
a0013c0014t0001g0102
a0013c0014t0001g0122
a0014c0023t0004g0243
a0015c0022t0002g0196
 115 HG00140.hp1
HG00408.hp1
HG00423.hp1
others(112): Show 
HG00140.hp1
HG00408.hp1
HG00423.hp1
HG00621.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01981.hp1
HG02071.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03516.hp2
HG03669.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp2
NA18957.hp1
NA18962.hp2
NA18966.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA18997.hp2
NA19000.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19055.hp1
NA19056.hp2
NA19058.hp1
NA19060.hp1
NA19074.hp2
NA19079.hp1
NA19081.hp1
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1035+839delA
c.1035+839delA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129410318
chr3:129410387 G
G
 A
A
 15 a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0039
others(12): Show 
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0002g0045
a0002c0002t0002g0226
a0004c0004t0001g0044
a0004c0004t0001g0046
 18 HG00544.hp2
HG01884.hp2
HG01891.hp2
others(15): Show 
HG00544.hp2
HG01884.hp2
HG01891.hp2
HG02015.hp1
HG02056.hp2
HG02622.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03516.hp1
HG04228.hp1
NA18950.hp1
NA18999.hp1
NA19043.hp2
NA19066.hp1
NA21309.hp1
 intron_variant MODIFIER c.1035+771C>T
c.1035+771C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129410387
chr3:129410507 A
A
 G
G
 22 a0001c0007t0001g0112
a0003c0003t0002g0006
a0003c0003t0002g0017
others(19): Show 
a0001c0007t0001g0112
a0003c0003t0002g0006
a0003c0003t0002g0017
a0003c0003t0002g0018
a0003c0003t0002g0036
a0003c0003t0002g0099
a0003c0003t0002g0100
a0003c0003t0002g0110
a0003c0003t0002g0156
a0003c0003t0002g0168
a0003c0003t0002g0169
a0003c0003t0002g0170
a0003c0003t0002g0171
a0003c0003t0002g0172
a0003c0003t0002g0173
a0003c0003t0002g0174
a0003c0003t0002g0175
a0003c0003t0002g0176
a0003c0003t0002g0179
a0003c0003t0002g0189
a0003c0003t0002g0190
a0003c0003t0002g0191
 33 HG00423.hp1
HG00621.hp1
HG00639.hp2
others(30): Show 
HG00423.hp1
HG00621.hp1
HG00639.hp2
HG01981.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02523.hp2
HG02630.hp1
HG02895.hp1
HG03139.hp2
HG03669.hp1
NA18612.hp2
NA18957.hp1
NA18962.hp2
NA18966.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA18997.hp2
NA19000.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp2
NA19055.hp1
NA19056.hp2
NA19058.hp1
NA19074.hp2
NA19079.hp1
NA19081.hp1
NA19084.hp2
NA19091.hp1
 intron_variant MODIFIER c.1035+651T>C
c.1035+651T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129410507
chr3:129410526 T
T
 C
C
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0044
a0004c0004t0001g0046
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.1035+632A>G
c.1035+632A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129410526
chr3:129411045 C
C
 T
T
 2 a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0241
a0001c0001t0001g0242
 2 HG02572.hp1
HG03486.hp1
HG02572.hp1
HG03486.hp1
 intron_variant MODIFIER c.1035+113G>A
c.1035+113G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129411045
chr3:129411094 G
G
 A
A
 1 a0004c0004t0001g0007
a0004c0004t0001g0007
 7 HG00642.hp1
HG01070.hp1
HG01071.hp1
others(4): Show 
HG00642.hp1
HG01070.hp1
HG01071.hp1
HG01192.hp1
HG01516.hp2
HG01517.hp2
HG03239.hp1
 intron_variant MODIFIER c.1035+64C>T
c.1035+64C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 5/8 chr3 129411094
chr3:129411585 T
T
 C
C
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.839-231A>G
c.839-231A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129411585
chr3:129411645 T
T
 C
C
 1 a0001c0001t0003g0246
a0001c0001t0003g0246
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.839-291A>G
c.839-291A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129411645
chr3:129411660 C
C
 T
T
 1 a0014c0023t0004g0243
a0014c0023t0004g0243
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.839-306G>A
c.839-306G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129411660
chr3:129411879 C
C
 T
T
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.839-525G>A
c.839-525G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129411879
chr3:129411886 G
G
 A
A
 14 a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0073
others(11): Show 
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0073
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0018t0001g0161
a0012c0012t0001g0181
a0012c0012t0001g0182
a0017c0019t0001g0151
 16 HG01069.hp1
HG01071.hp2
HG01515.hp1
others(13): Show 
HG01069.hp1
HG01071.hp2
HG01515.hp1
HG02074.hp1
HG02257.hp1
HG02698.hp1
HG02735.hp2
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03942.hp2
NA18952.hp1
NA18956.hp2
NA18973.hp2
NA18992.hp2
NA20805.hp1
 intron_variant MODIFIER c.839-532C>T
c.839-532C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129411886
chr3:129411914 C
C
 T
T
 1 a0001c0001t0003g0249
a0001c0001t0003g0249
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.839-560G>A
c.839-560G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129411914
chr3:129411932 A
A
 AAAAC
AAAAC
 143 a0001c0001t0001g0037
a0001c0001t0001g0184
a0001c0001t0001g0241
others(140): Show 
a0001c0001t0001g0037
a0001c0001t0001g0184
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0007t0001g0112
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0003c0003t0002g0006
a0003c0003t0002g0017
a0003c0003t0002g0018
a0003c0003t0002g0036
a0003c0003t0002g0099
a0003c0003t0002g0100
a0003c0003t0002g0110
a0003c0003t0002g0156
a0003c0003t0002g0168
a0003c0003t0002g0169
a0003c0003t0002g0170
a0003c0003t0002g0171
a0003c0003t0002g0172
a0003c0003t0002g0173
a0003c0003t0002g0174
a0003c0003t0002g0175
a0003c0003t0002g0176
a0003c0003t0002g0179
a0003c0003t0002g0189
a0003c0003t0002g0190
a0003c0003t0002g0191
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0044
a0004c0004t0001g0046
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
a0013c0014t0001g0102
a0013c0014t0001g0122
a0015c0022t0002g0196
a0016c0017t0001g0121
a0018c0021t0001g0133
 211 HG00140.hp1
HG00408.hp1
HG00423.hp1
others(208): Show 
HG00140.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.839-582_839-579dup
others(4): Show 
c.839-582_839-579dupGTTT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129411932
chr3:129412177 A
A
 T
T
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.839-823T>A
c.839-823T>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412177
chr3:129412188 G
G
 A
A
 101 a0001c0001t0001g0037
a0001c0001t0001g0184
a0001c0007t0001g0212
others(98): Show 
a0001c0001t0001g0037
a0001c0001t0001g0184
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0044
a0004c0004t0001g0046
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 156 HG00140.hp1
HG00408.hp1
HG00544.hp1
others(153): Show 
HG00140.hp1
HG00408.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03688.hp2
HG03710.hp1
HG03927.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.839-834C>T
c.839-834C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412188
chr3:129412218 T
T
 A
A
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.839-864A>T
c.839-864A>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412218
chr3:129412289 G
G
 A
A
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.839-935C>T
c.839-935C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412289
chr3:129412418 GTAGA
GTAGA
 G
G
 19 a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0042
others(16): Show 
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0042
a0001c0001t0003g0257
a0001c0001t0003g0258
a0002c0002t0001g0032
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
 23 HG00544.hp1
HG01123.hp1
HG01255.hp2
others(20): Show 
HG00544.hp1
HG01123.hp1
HG01255.hp2
HG01943.hp1
HG01978.hp1
HG02004.hp1
HG02055.hp2
HG02083.hp2
HG02135.hp2
HG02615.hp2
HG02976.hp2
HG03453.hp1
HG03491.hp1
HG03516.hp2
HG03834.hp1
HG04115.hp2
NA18522.hp1
NA18747.hp2
NA18952.hp2
NA19043.hp1
NA19240.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.839-1068_839-1065d
others(6): Show 
c.839-1068_839-1065delTCTA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412418
chr3:129412418 GTAGATGG
others(1): Show 
GTAGATGGA
 G
G
 8 a0002c0002t0001g0008
a0002c0002t0001g0031
a0002c0002t0001g0081
others(5): Show 
a0002c0002t0001g0008
a0002c0002t0001g0031
a0002c0002t0001g0081
a0002c0002t0001g0119
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0145
 14 HG02132.hp2
HG03490.hp1
HG03492.hp1
others(11): Show 
HG02132.hp2
HG03490.hp1
HG03492.hp1
HG03654.hp1
NA18979.hp1
NA18981.hp2
NA18993.hp1
NA18999.hp2
NA19009.hp2
NA19011.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19068.hp1
 intron_variant MODIFIER c.839-1072_839-1065d
others(10): Show 
c.839-1072_839-1065delTCCATCTA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412418
chr3:129412420 A
A
 AGATG
AGATG
 10 a0001c0001t0001g0242
a0003c0003t0002g0017
a0003c0003t0002g0099
others(7): Show 
a0001c0001t0001g0242
a0003c0003t0002g0017
a0003c0003t0002g0099
a0003c0003t0002g0100
a0003c0003t0002g0110
a0003c0003t0002g0171
a0003c0003t0002g0172
a0003c0003t0002g0174
a0003c0003t0002g0190
a0003c0003t0002g0191
 12 HG00639.hp2
HG02071.hp1
HG02132.hp1
others(9): Show 
HG00639.hp2
HG02071.hp1
HG02132.hp1
HG02135.hp1
HG02523.hp2
HG02572.hp1
NA18957.hp1
NA18962.hp2
NA18971.hp2
NA18975.hp1
NA19000.hp1
NA19011.hp2
 intron_variant MODIFIER c.839-1070_839-1067d
others(6): Show 
c.839-1070_839-1067dupCATC
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412420
chr3:129412420 A
A
 G
G
 55 a0001c0001t0002g0186
a0001c0001t0003g0013
a0002c0002t0001g0001
others(52): Show 
a0001c0001t0002g0186
a0001c0001t0003g0013
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0005c0006t0002g0197
a0013c0014t0001g0102
a0013c0014t0001g0122
a0015c0022t0002g0196
a0016c0017t0001g0121
a0018c0021t0001g0133
 86 HG00544.hp2
HG00558.hp1
HG00597.hp1
others(83): Show 
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01934.hp1
HG01975.hp1
HG01975.hp2
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03486.hp2
HG03516.hp1
HG03710.hp1
HG03942.hp1
HG04228.hp1
NA18612.hp1
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.839-1066T>C
c.839-1066T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412420
chr3:129412424 GGATGGAT
others(9): Show 
GGATGGATAGATAGATA
 G
G
 1 a0002c0002t0001g0125
a0002c0002t0001g0125
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.839-1086_839-1071d
others(18): Show 
c.839-1086_839-1071delTATCTATCTATCCATC
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412424
chr3:129412428 G
G
 A
A
 50 a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0015
others(47): Show 
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 78 HG00544.hp2
HG00558.hp1
HG00597.hp1
others(75): Show 
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03516.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.839-1074C>T
c.839-1074C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412428
chr3:129412428 G
G
 GGATGGAT
others(1): Show 
GGATGGATA
 3 a0003c0003t0002g0018
a0003c0003t0002g0173
a0003c0003t0002g0175
a0003c0003t0002g0018
a0003c0003t0002g0173
a0003c0003t0002g0175
 5 HG00621.hp1
HG03669.hp1
NA18612.hp2
others(2): Show 
HG00621.hp1
HG03669.hp1
NA18612.hp2
NA19079.hp1
NA19091.hp1
 intron_variant MODIFIER c.839-1075_839-1074i
others(10): Show 
c.839-1075_839-1074insTATCCATC
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412428
chr3:129412428 G
G
 GGATGGAT
others(5): Show 
GGATGGATAGATA
 1 a0003c0003t0002g0189
a0003c0003t0002g0189
 1 NA19081.hp1
NA19081.hp1
 intron_variant MODIFIER c.839-1075_839-1074i
others(14): Show 
c.839-1075_839-1074insTATCTATCCATC
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412428
chr3:129412428 GGATA
GGATA
 G
G
 73 a0001c0001t0001g0002
a0001c0001t0001g0009
a0001c0001t0001g0023
others(70): Show 
a0001c0001t0001g0002
a0001c0001t0001g0009
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0111
a0001c0001t0001g0113
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0177
a0001c0001t0001g0184
a0001c0001t0001g0241
a0001c0001t0003g0005
a0001c0001t0003g0043
a0001c0001t0003g0245
a0001c0001t0003g0246
a0001c0001t0003g0247
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0254
a0001c0001t0003g0256
a0001c0001t0005g0259
a0001c0018t0001g0161
a0004c0004t0001g0007
a0004c0004t0001g0044
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0159
a0006c0005t0001g0194
a0007c0008t0001g0014
a0010c0011t0001g0219
a0017c0019t0001g0151
 120 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(117): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01256.hp1
HG01257.hp2
HG01346.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp2
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp2
HG03927.hp2
HG04204.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18950.hp2
NA18952.hp1
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18984.hp2
NA18988.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA18995.hp2
NA19002.hp2
NA19007.hp1
NA19009.hp1
NA19043.hp2
NA19054.hp1
NA19057.hp2
NA19063.hp1
NA19065.hp2
NA19067.hp1
NA19089.hp2
NA19090.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.839-1078_839-1075d
others(6): Show 
c.839-1078_839-1075delTATC
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412428
chr3:129412428 GGATAGAT
others(1): Show 
GGATAGATA
 G
G
 43 a0001c0001t0001g0003
a0001c0001t0001g0025
a0001c0001t0001g0050
others(40): Show 
a0001c0001t0001g0003
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0079
a0001c0001t0001g0083
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0114
a0001c0001t0001g0178
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0002g0019
a0001c0001t0002g0186
a0001c0001t0003g0012
a0001c0001t0003g0013
a0001c0001t0003g0040
a0001c0001t0003g0244
a0001c0001t0003g0248
a0001c0001t0003g0253
a0001c0001t0003g0255
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0239
a0001c0020t0001g0240
a0003c0003t0002g0036
a0004c0004t0001g0038
a0005c0006t0002g0197
a0006c0005t0001g0149
a0007c0008t0001g0094
a0014c0023t0004g0243
a0015c0022t0002g0196
 66 HG00140.hp1
HG00423.hp1
HG00597.hp2
others(63): Show 
HG00140.hp1
HG00423.hp1
HG00597.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp2
HG01074.hp2
HG01099.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01934.hp1
HG01975.hp2
HG01993.hp1
HG02004.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02145.hp2
HG02258.hp2
HG02273.hp1
HG02293.hp1
HG02559.hp1
HG02559.hp2
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02970.hp1
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp2
HG03710.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp2
NA18522.hp2
NA18944.hp2
NA18971.hp1
NA18979.hp2
NA18981.hp1
NA18986.hp1
NA18997.hp1
NA19001.hp2
NA19055.hp2
NA19066.hp2
NA19068.hp2
NA19074.hp1
NA19091.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.839-1082_839-1075d
others(10): Show 
c.839-1082_839-1075delTATCTATC
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412428
chr3:129412428 GGATAGAT
others(5): Show 
GGATAGATAGATA
 G
G
 7 a0001c0001t0001g0052
a0001c0001t0001g0089
a0008c0009t0001g0010
others(4): Show 
a0001c0001t0001g0052
a0001c0001t0001g0089
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0012c0012t0001g0181
a0012c0012t0001g0182
 10 HG01167.hp1
HG02109.hp1
HG02257.hp1
others(7): Show 
HG01167.hp1
HG02109.hp1
HG02257.hp1
HG02280.hp1
HG02572.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
HG03209.hp2
HG03834.hp2
 intron_variant MODIFIER c.839-1086_839-1075d
others(14): Show 
c.839-1086_839-1075delTATCTATCTATC
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412428
chr3:129412428 GGATAGAT
others(9): Show 
GGATAGATAGATAGATA
 G
G
 1 a0004c0004t0001g0230
a0004c0004t0001g0230
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.839-1090_839-1075d
others(18): Show 
c.839-1090_839-1075delTATCTATCTATCTATC
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412428
chr3:129412428 GGATAGAT
others(17): Show 
GGATAGATAGATAGATAGATAGATA
 G
G
 9 a0001c0001t0001g0101
a0001c0001t0001g0108
a0001c0001t0001g0153
others(6): Show 
a0001c0001t0001g0101
a0001c0001t0001g0108
a0001c0001t0001g0153
a0001c0001t0001g0158
a0009c0010t0001g0107
a0009c0010t0001g0152
a0009c0010t0001g0154
a0009c0010t0001g0155
a0009c0010t0001g0157
 9 HG01109.hp2
HG02055.hp1
HG02145.hp1
others(6): Show 
HG01109.hp2
HG02055.hp1
HG02145.hp1
HG02647.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
NA19030.hp1
 intron_variant MODIFIER c.839-1098_839-1075d
others(26): Show 
c.839-1098_839-1075delTATCTATCTATCTATCTATCTATC
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412428
chr3:129412431 T
T
 C
C
 6 a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0224
others(3): Show 
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0224
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
 6 HG01891.hp1
HG02809.hp1
HG02965.hp2
others(3): Show 
HG01891.hp1
HG02809.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG04204.hp1
 intron_variant MODIFIER c.839-1077A>G
c.839-1077A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412431
chr3:129412432 A
A
 G
G
 34 a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0042
others(31): Show 
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0042
a0001c0001t0003g0257
a0001c0001t0003g0258
a0001c0007t0001g0112
a0002c0002t0001g0008
a0002c0002t0001g0031
a0002c0002t0001g0081
a0002c0002t0001g0119
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0145
a0003c0003t0002g0006
a0003c0003t0002g0156
a0003c0003t0002g0168
a0003c0003t0002g0169
a0003c0003t0002g0170
a0003c0003t0002g0176
a0003c0003t0002g0179
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
 49 HG01123.hp1
HG01255.hp2
HG01943.hp1
others(46): Show 
HG01123.hp1
HG01255.hp2
HG01943.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02055.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02615.hp2
HG02630.hp1
HG02895.hp1
HG02976.hp2
HG03453.hp1
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03654.hp1
HG03834.hp1
HG04115.hp2
NA18522.hp1
NA18952.hp2
NA18966.hp2
NA18979.hp1
NA18981.hp2
NA18989.hp2
NA18993.hp1
NA18997.hp2
NA18999.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp1
NA19055.hp1
NA19056.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19068.hp1
NA19074.hp2
NA19084.hp2
NA19240.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.839-1078T>C
c.839-1078T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412432
chr3:129412435 T
T
 C
C
 8 a0004c0004t0001g0007
a0004c0004t0001g0208
a0004c0004t0001g0214
others(5): Show 
a0004c0004t0001g0007
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
 14 HG00408.hp1
HG00621.hp2
HG00642.hp1
others(11): Show 
HG00408.hp1
HG00621.hp2
HG00642.hp1
HG01070.hp1
HG01071.hp1
HG01192.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG02886.hp2
HG03225.hp2
HG03239.hp1
HG03927.hp2
NA18906.hp2
 intron_variant MODIFIER c.839-1081A>G
c.839-1081A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412435
chr3:129412436 A
A
 G
G
 3 a0001c0001t0001g0097
a0001c0001t0001g0177
a0001c0001t0001g0241
a0001c0001t0001g0097
a0001c0001t0001g0177
a0001c0001t0001g0241
 3 HG03098.hp2
HG03486.hp1
NA18988.hp1
HG03098.hp2
HG03486.hp1
NA18988.hp1
 intron_variant MODIFIER c.839-1082T>C
c.839-1082T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412436
chr3:129412439 T
T
 C
C
 1 a0004c0004t0001g0038
a0004c0004t0001g0038
 2 HG01168.hp1
homoSapiens_chm13v2.hp1
HG01168.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.839-1085A>G
c.839-1085A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412439
chr3:129412440 A
A
 G
G
 1 a0003c0003t0002g0036
a0003c0003t0002g0036
 2 HG00423.hp1
HG03139.hp2
HG00423.hp1
HG03139.hp2
 intron_variant MODIFIER c.839-1086T>C
c.839-1086T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412440
chr3:129412447 T
T
 C
C
 1 a0004c0004t0001g0230
a0004c0004t0001g0230
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.839-1093A>G
c.839-1093A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412447
chr3:129412471 T
T
 C
C
 25 a0002c0002t0001g0008
a0002c0002t0001g0015
a0002c0002t0001g0021
others(22): Show 
a0002c0002t0001g0008
a0002c0002t0001g0015
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0142
a0002c0002t0001g0145
a0002c0002t0001g0147
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 36 HG00544.hp1
HG00558.hp1
HG01074.hp1
others(33): Show 
HG00544.hp1
HG00558.hp1
HG01074.hp1
HG02015.hp2
HG02132.hp2
HG02280.hp2
HG02486.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
NA18747.hp2
NA18942.hp2
NA18947.hp2
NA18959.hp1
NA18968.hp1
NA18975.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18989.hp1
NA18993.hp1
NA18999.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19067.hp2
NA19068.hp1
NA21309.hp1
 intron_variant MODIFIER c.839-1117A>G
c.839-1117A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412471
chr3:129412471 T
T
 TAGAC
TAGAC
 27 a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0016
others(24): Show 
a0002c0002t0001g0001
a0002c0002t0001g0011
a0002c0002t0001g0016
a0002c0002t0001g0039
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0116
a0002c0002t0001g0118
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0146
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0238
a0002c0002t0002g0226
a0002c0016t0001g0120
 50 HG00597.hp1
HG00673.hp2
HG01070.hp2
others(47): Show 
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02027.hp1
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02165.hp1
HG02165.hp2
HG02523.hp1
HG02723.hp1
HG02809.hp2
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp1
NA18960.hp1
NA18966.hp1
NA18973.hp1
NA18978.hp2
NA18986.hp2
NA18988.hp2
NA18994.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19054.hp2
NA19056.hp1
NA19065.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19240.hp2
 intron_variant MODIFIER c.839-1118_839-1117i
others(6): Show 
c.839-1118_839-1117insGTCT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412471
chr3:129412475 T
T
 C
C
 59 a0001c0001t0001g0092
a0001c0007t0001g0237
a0002c0002t0001g0001
others(56): Show 
a0001c0001t0001g0092
a0001c0007t0001g0237
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0238
a0002c0002t0002g0226
a0002c0016t0001g0120
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0013c0014t0001g0102
a0013c0014t0001g0122
a0014c0023t0004g0243
a0016c0017t0001g0121
a0018c0021t0001g0133
 96 HG00544.hp1
HG00558.hp1
HG00597.hp1
others(93): Show 
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01978.hp2
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02572.hp2
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03209.hp2
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.839-1121A>G
c.839-1121A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412475
chr3:129412475 T
T
 TAGACAGA
others(1): Show 
TAGACAGAC
 5 a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0227
others(2): Show 
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0002g0045
 5 HG00544.hp2
HG01257.hp1
HG02622.hp1
others(2): Show 
HG00544.hp2
HG01257.hp1
HG02622.hp1
NA19066.hp1
NA19090.hp1
 intron_variant MODIFIER c.839-1129_839-1122d
others(10): Show 
c.839-1129_839-1122dupGTCTGTCT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412475
chr3:129412475 T
T
 TAGATAGA
others(5): Show 
TAGATAGACAGAC
 2 a0002c0002t0001g0030
a0002c0002t0001g0229
a0002c0002t0001g0030
a0002c0002t0001g0229
 3 NA18995.hp1
NA18999.hp1
NA19057.hp1
NA18995.hp1
NA18999.hp1
NA19057.hp1
 intron_variant MODIFIER c.839-1122_839-1121i
others(14): Show 
c.839-1122_839-1121insGTCTGTCTATCT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412475
chr3:129412478 A
A
 G
G
 1 a0001c0001t0001g0067
a0001c0001t0001g0067
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.839-1124T>C
c.839-1124T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412478
chr3:129412501 C
C
 T
T
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.839-1147G>A
c.839-1147G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412501
chr3:129412576 G
G
 A
A
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.839-1222C>T
c.839-1222C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412576
chr3:129412617 A
A
 C
C
 1 a0001c0001t0001g0088
a0001c0001t0001g0088
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.839-1263T>G
c.839-1263T>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412617
chr3:129412635 C
C
 A
A
 8 a0002c0002t0001g0039
a0002c0002t0001g0147
a0002c0002t0001g0148
others(5): Show 
a0002c0002t0001g0039
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0002g0226
 9 HG00544.hp2
HG01884.hp2
HG02015.hp1
others(6): Show 
HG00544.hp2
HG01884.hp2
HG02015.hp1
HG02056.hp2
HG04228.hp1
NA18950.hp1
NA18999.hp1
NA19066.hp1
NA21309.hp1
 intron_variant MODIFIER c.839-1281G>T
c.839-1281G>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412635
chr3:129412755 T
T
 C
C
 9 a0001c0001t0001g0101
a0001c0001t0001g0108
a0001c0001t0001g0153
others(6): Show 
a0001c0001t0001g0101
a0001c0001t0001g0108
a0001c0001t0001g0153
a0001c0001t0001g0158
a0009c0010t0001g0107
a0009c0010t0001g0152
a0009c0010t0001g0154
a0009c0010t0001g0155
a0009c0010t0001g0157
 9 HG01109.hp2
HG02055.hp1
HG02145.hp1
others(6): Show 
HG01109.hp2
HG02055.hp1
HG02145.hp1
HG02647.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
NA19030.hp1
 intron_variant MODIFIER c.839-1401A>G
c.839-1401A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412755
chr3:129412939 C
C
 T
T
 36 a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
others(33): Show 
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0044
a0004c0004t0001g0046
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
 52 HG00140.hp1
HG00408.hp1
HG00621.hp2
others(49): Show 
HG00140.hp1
HG00408.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02630.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03688.hp2
HG03927.hp2
HG04204.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA19060.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.839-1585G>A
c.839-1585G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129412939
chr3:129413109 T
T
 C
C
 1 a0001c0001t0003g0258
a0001c0001t0003g0258
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.839-1755A>G
c.839-1755A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129413109
chr3:129413214 G
G
 A
A
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.839-1860C>T
c.839-1860C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129413214
chr3:129413233 T
T
 G
G
 1 a0002c0002t0001g0142
a0002c0002t0001g0142
 1 NA18942.hp2
NA18942.hp2
 intron_variant MODIFIER c.839-1879A>C
c.839-1879A>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129413233
chr3:129413250 C
C
 T
T
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA19077.hp2
NA19077.hp2
 intron_variant MODIFIER c.839-1896G>A
c.839-1896G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129413250
chr3:129413270 C
C
 A
A
 2 a0005c0006t0002g0020
a0005c0006t0002g0205
a0005c0006t0002g0020
a0005c0006t0002g0205
 4 HG01255.hp2
HG02055.hp2
HG02615.hp2
others(1): Show 
HG01255.hp2
HG02055.hp2
HG02615.hp2
NA18522.hp1
 intron_variant MODIFIER c.839-1916G>T
c.839-1916G>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129413270
chr3:129413455 A
A
 G
G
 1 a0001c0018t0001g0161
a0001c0018t0001g0161
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.838+1790T>C
c.838+1790T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129413455
chr3:129413483 TA
TA
 T
T
 12 a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0160
others(9): Show 
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0018t0001g0161
a0012c0012t0001g0181
a0012c0012t0001g0182
 14 HG01069.hp1
HG01071.hp2
HG01515.hp1
others(11): Show 
HG01069.hp1
HG01071.hp2
HG01515.hp1
HG02257.hp1
HG02698.hp1
HG02735.hp2
HG02922.hp2
HG03041.hp1
HG03942.hp2
NA18952.hp1
NA18956.hp2
NA18973.hp2
NA18992.hp2
NA20805.hp1
 intron_variant MODIFIER c.838+1761delT
c.838+1761delT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129413483
chr3:129413581 A
A
 G
G
 59 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(56): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 94 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(91): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.838+1664T>C
c.838+1664T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129413581
chr3:129413583 A
A
 G
G
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.838+1662T>C
c.838+1662T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129413583
chr3:129413747 T
T
 TC
TC
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.838+1497dupG
c.838+1497dupG
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129413747
chr3:129413833 G
G
 A
A
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.838+1412C>T
c.838+1412C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129413833
chr3:129413910 A
A
 C
C
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.838+1335T>G
c.838+1335T>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129413910
chr3:129413990 T
T
 C
C
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.838+1255A>G
c.838+1255A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129413990
chr3:129414043 C
C
 A
A
 3 a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
 6 HG02109.hp1
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02109.hp1
HG02280.hp1
HG02572.hp2
HG02615.hp1
HG02818.hp2
HG03209.hp2
 intron_variant MODIFIER c.838+1202G>T
c.838+1202G>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129414043
chr3:129414620 T
T
 G
G
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.838+625A>C
c.838+625A>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129414620
chr3:129414714 A
A
 G
G
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.838+531T>C
c.838+531T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129414714
chr3:129414944 A
A
 G
G
 1 a0002c0002t0001g0126
a0002c0002t0001g0126
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.838+301T>C
c.838+301T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 4/8 chr3 129414944
chr3:129415467 G
G
 T
T
 4 a0001c0007t0001g0231
a0001c0007t0001g0233
a0001c0007t0001g0234
others(1): Show 
a0001c0007t0001g0231
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
 4 HG00140.hp1
HG00738.hp1
HG01361.hp2
others(1): Show 
HG00140.hp1
HG00738.hp1
HG01361.hp2
HG02145.hp2
 intron_variant MODIFIER c.682-66C>A
c.682-66C>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129415467
chr3:129415493 T
T
 C
C
 3 a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
 6 HG02109.hp1
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02109.hp1
HG02280.hp1
HG02572.hp2
HG02615.hp1
HG02818.hp2
HG03209.hp2
 intron_variant MODIFIER c.682-92A>G
c.682-92A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129415493
chr3:129415567 G
G
 A
A
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.682-166C>T
c.682-166C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129415567
chr3:129415592 G
G
 C
C
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.682-191C>G
c.682-191C>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129415592
chr3:129415625 C
C
 T
T
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.682-224G>A
c.682-224G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129415625
chr3:129415757 G
G
 A
A
 34 a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
others(31): Show 
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
 50 HG00140.hp1
HG00408.hp1
HG00621.hp2
others(47): Show 
HG00140.hp1
HG00408.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02630.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03688.hp2
HG03927.hp2
HG04204.hp1
NA18906.hp1
NA18906.hp2
NA19060.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.682-356C>T
c.682-356C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129415757
chr3:129415849 T
T
 C
C
 1 a0001c0007t0001g0232
a0001c0007t0001g0232
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.682-448A>G
c.682-448A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129415849
chr3:129416043 A
A
 G
G
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.682-642T>C
c.682-642T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129416043
chr3:129416050 T
T
 C
C
 102 a0001c0007t0001g0112
a0001c0007t0001g0212
a0001c0007t0001g0231
others(99): Show 
a0001c0007t0001g0112
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0001c0007t0001g0239
a0001c0020t0001g0240
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0044
a0004c0004t0001g0046
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 156 HG00140.hp1
HG00408.hp1
HG00544.hp1
others(153): Show 
HG00140.hp1
HG00408.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03688.hp2
HG03710.hp1
HG03927.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.682-649A>G
c.682-649A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129416050
chr3:129416074 T
T
 C
C
 58 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(55): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0016c0017t0001g0121
a0018c0021t0001g0133
 93 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(90): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.682-673A>G
c.682-673A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129416074
chr3:129416162 T
T
 C
C
 12 a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0160
others(9): Show 
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0018t0001g0161
a0012c0012t0001g0181
a0012c0012t0001g0182
 14 HG01069.hp1
HG01071.hp2
HG01515.hp1
others(11): Show 
HG01069.hp1
HG01071.hp2
HG01515.hp1
HG02257.hp1
HG02698.hp1
HG02735.hp2
HG02922.hp2
HG03041.hp1
HG03942.hp2
NA18952.hp1
NA18956.hp2
NA18973.hp2
NA18992.hp2
NA20805.hp1
 intron_variant MODIFIER c.682-761A>G
c.682-761A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129416162
chr3:129416165 A
A
 T
T
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.682-764T>A
c.682-764T>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129416165
chr3:129416413 G
G
 A
A
 1 a0010c0011t0001g0210
a0010c0011t0001g0210
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.682-1012C>T
c.682-1012C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129416413
chr3:129416418 A
A
 AAAAC
AAAAC
 11 a0001c0001t0001g0055
a0001c0001t0001g0077
a0001c0001t0001g0164
others(8): Show 
a0001c0001t0001g0055
a0001c0001t0001g0077
a0001c0001t0001g0164
a0001c0007t0001g0239
a0001c0020t0001g0240
a0003c0003t0002g0099
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0214
a0004c0004t0001g0218
a0004c0004t0001g0220
 18 HG00423.hp2
HG00642.hp1
HG00735.hp1
others(15): Show 
HG00423.hp2
HG00642.hp1
HG00735.hp1
HG01070.hp1
HG01071.hp1
HG01168.hp1
HG01192.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG02523.hp2
HG02886.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
NA18973.hp2
NA19067.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.682-1021_682-1018d
others(6): Show 
c.682-1021_682-1018dupGTTT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129416418
chr3:129416418 A
A
 AAAACAAA
others(1): Show 
AAAACAAAC
 3 a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
 6 HG02109.hp1
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02109.hp1
HG02280.hp1
HG02572.hp2
HG02615.hp1
HG02818.hp2
HG03209.hp2
 intron_variant MODIFIER c.682-1025_682-1018d
others(10): Show 
c.682-1025_682-1018dupGTTTGTTT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129416418
chr3:129416418 A
A
 AAAACAAA
others(5): Show 
AAAACAAACAAAC
 2 a0004c0004t0001g0044
a0004c0004t0001g0046
a0004c0004t0001g0044
a0004c0004t0001g0046
 2 HG01891.hp2
NA19043.hp2
HG01891.hp2
NA19043.hp2
 intron_variant MODIFIER c.682-1029_682-1018d
others(14): Show 
c.682-1029_682-1018dupGTTTGTTTGTTT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129416418
chr3:129416418 AAAAC
AAAAC
 A
A
 25 a0001c0001t0001g0037
a0001c0001t0001g0111
a0001c0001t0001g0177
others(22): Show 
a0001c0001t0001g0037
a0001c0001t0001g0111
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0002g0019
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0253
a0004c0004t0001g0208
a0005c0006t0001g0206
a0005c0006t0002g0195
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0011c0013t0001g0033
a0015c0022t0002g0196
 37 HG00738.hp2
HG01167.hp2
HG01169.hp2
others(34): Show 
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01346.hp1
HG02109.hp2
HG02258.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02630.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02970.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03453.hp1
HG03453.hp2
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp1
HG03927.hp2
NA18522.hp2
NA18906.hp1
NA18952.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.682-1021_682-1018d
others(6): Show 
c.682-1021_682-1018delGTTT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129416418
chr3:129416442 C
C
 T
T
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.682-1041G>A
c.682-1041G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129416442
chr3:129416446 C
C
 A
A
 4 a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
others(1): Show 
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
 4 HG01891.hp1
HG02451.hp1
HG02809.hp1
others(1): Show 
HG01891.hp1
HG02451.hp1
HG02809.hp1
HG03041.hp2
 intron_variant MODIFIER c.682-1045G>T
c.682-1045G>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129416446
chr3:129416477 T
T
 C
C
 1 a0001c0001t0001g0076
a0001c0001t0001g0076
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.682-1076A>G
c.682-1076A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129416477
chr3:129416529 C
C
 T
T
 1 a0001c0001t0001g0086
a0001c0001t0001g0086
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.682-1128G>A
c.682-1128G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129416529
chr3:129416787 C
C
 T
T
 1 a0001c0001t0001g0183
a0001c0001t0001g0183
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.682-1386G>A
c.682-1386G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129416787
chr3:129416788 G
G
 T
T
 101 a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
others(98): Show 
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0001c0007t0001g0239
a0001c0020t0001g0240
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0044
a0004c0004t0001g0046
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 155 HG00140.hp1
HG00408.hp1
HG00544.hp1
others(152): Show 
HG00140.hp1
HG00408.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03688.hp2
HG03710.hp1
HG03927.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.682-1387C>A
c.682-1387C>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129416788
chr3:129417217 C
C
 A
A
 26 a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
others(23): Show 
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
 33 HG00140.hp1
HG00408.hp1
HG00621.hp2
others(30): Show 
HG00140.hp1
HG00408.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp1
HG02809.hp1
HG02886.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03688.hp2
HG03927.hp2
HG04204.hp1
NA18906.hp2
NA19060.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.681+1037G>T
c.681+1037G>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417217
chr3:129417218 G
G
 A
A
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.681+1036C>T
c.681+1036C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417218
chr3:129417307 G
G
 C
C
 1 a0001c0001t0003g0255
a0001c0001t0003g0255
 1 HG01358.hp2
HG01358.hp2
 intron_variant MODIFIER c.681+947C>G
c.681+947C>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417307
chr3:129417323 C
C
 CA
CA
 46 a0001c0001t0001g0025
a0001c0001t0001g0053
a0001c0001t0001g0059
others(43): Show 
a0001c0001t0001g0025
a0001c0001t0001g0053
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0093
a0001c0001t0001g0114
a0001c0001t0001g0158
a0001c0001t0003g0244
a0001c0001t0003g0254
a0001c0001t0003g0255
a0001c0007t0001g0112
a0001c0007t0001g0237
a0003c0003t0002g0006
a0003c0003t0002g0017
a0003c0003t0002g0018
a0003c0003t0002g0036
a0003c0003t0002g0100
a0003c0003t0002g0169
a0003c0003t0002g0170
a0003c0003t0002g0171
a0003c0003t0002g0172
a0003c0003t0002g0173
a0003c0003t0002g0179
a0003c0003t0002g0189
a0003c0003t0002g0190
a0004c0004t0001g0223
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0149
a0015c0022t0002g0196
 60 HG00423.hp1
HG00423.hp2
HG00621.hp1
others(57): Show 
HG00423.hp1
HG00423.hp2
HG00621.hp1
HG00639.hp2
HG00673.hp1
HG01175.hp2
HG01255.hp2
HG01358.hp2
HG01981.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02257.hp2
HG02559.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02895.hp1
HG03139.hp2
HG03453.hp1
HG03491.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
NA18522.hp1
NA18612.hp2
NA18947.hp1
NA18952.hp2
NA18955.hp2
NA18957.hp1
NA18962.hp2
NA18966.hp2
NA18971.hp2
NA18975.hp1
NA18997.hp2
NA19002.hp2
NA19005.hp1
NA19007.hp2
NA19043.hp1
NA19055.hp2
NA19056.hp2
NA19074.hp2
NA19077.hp2
NA19081.hp1
NA19084.hp2
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.681+930dupT
c.681+930dupT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417323
chr3:129417323 C
C
 CAA
CAA
 6 a0001c0007t0001g0212
a0003c0003t0002g0099
a0003c0003t0002g0110
others(3): Show 
a0001c0007t0001g0212
a0003c0003t0002g0099
a0003c0003t0002g0110
a0003c0003t0002g0174
a0003c0003t0002g0175
a0003c0003t0002g0191
 6 HG01175.hp1
HG02135.hp1
HG02523.hp2
others(3): Show 
HG01175.hp1
HG02135.hp1
HG02523.hp2
NA19000.hp1
NA19011.hp2
NA19079.hp1
 intron_variant MODIFIER c.681+929_681+930dup
others(2): Show 
c.681+929_681+930dupTT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417323
chr3:129417323 CA
CA
 C
C
 58 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(55): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 93 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(90): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.681+930delT
c.681+930delT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417323
chr3:129417329 A
A
 C
C
 1 a0001c0020t0001g0240
a0001c0020t0001g0240
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.681+925T>G
c.681+925T>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417329
chr3:129417330 A
A
 C
C
 2 a0002c0002t0001g0081
a0002c0002t0001g0143
a0002c0002t0001g0081
a0002c0002t0001g0143
 2 NA18979.hp1
NA18988.hp2
NA18979.hp1
NA18988.hp2
 intron_variant MODIFIER c.681+924T>G
c.681+924T>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417330
chr3:129417331 A
A
 C
C
 58 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(55): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 93 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(90): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.681+923T>G
c.681+923T>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417331
chr3:129417333 A
A
 C
C
 3 a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
 6 HG02109.hp1
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02109.hp1
HG02280.hp1
HG02572.hp2
HG02615.hp1
HG02818.hp2
HG03209.hp2
 intron_variant MODIFIER c.681+921T>G
c.681+921T>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417333
chr3:129417334 A
A
 C
C
 8 a0001c0007t0001g0239
a0001c0020t0001g0240
a0004c0004t0001g0044
others(5): Show 
a0001c0007t0001g0239
a0001c0020t0001g0240
a0004c0004t0001g0044
a0004c0004t0001g0046
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
 8 HG00735.hp1
HG01891.hp1
HG01891.hp2
others(5): Show 
HG00735.hp1
HG01891.hp1
HG01891.hp2
HG02451.hp1
HG02809.hp1
HG03041.hp2
HG03471.hp1
NA19043.hp2
 intron_variant MODIFIER c.681+920T>G
c.681+920T>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417334
chr3:129417335 A
A
 C
C
 2 a0002c0002t0001g0081
a0002c0002t0001g0143
a0002c0002t0001g0081
a0002c0002t0001g0143
 2 NA18979.hp1
NA18988.hp2
NA18979.hp1
NA18988.hp2
 intron_variant MODIFIER c.681+919T>G
c.681+919T>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417335
chr3:129417336 A
A
 C
C
 58 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(55): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 93 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(90): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.681+918T>G
c.681+918T>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417336
chr3:129417339 A
A
 C
C
 4 a0001c0007t0001g0239
a0001c0020t0001g0240
a0002c0002t0001g0081
others(1): Show 
a0001c0007t0001g0239
a0001c0020t0001g0240
a0002c0002t0001g0081
a0002c0002t0001g0143
 4 HG00735.hp1
HG03471.hp1
NA18979.hp1
others(1): Show 
HG00735.hp1
HG03471.hp1
NA18979.hp1
NA18988.hp2
 intron_variant MODIFIER c.681+915T>G
c.681+915T>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417339
chr3:129417339 AC
AC
 A
A
 27 a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0037
others(24): Show 
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0111
a0001c0001t0001g0153
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0019
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0018t0001g0161
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0009c0010t0001g0107
a0009c0010t0001g0154
a0017c0019t0001g0151
 35 HG01069.hp1
HG01071.hp2
HG01109.hp2
others(32): Show 
HG01069.hp1
HG01071.hp2
HG01109.hp2
HG01515.hp1
HG02109.hp1
HG02258.hp1
HG02280.hp1
HG02559.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp2
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
NA18522.hp2
NA18952.hp1
NA18956.hp2
NA18973.hp2
NA18992.hp2
NA19030.hp1
NA20129.hp1
NA20805.hp1
 intron_variant MODIFIER c.681+914delG
c.681+914delG
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417339
chr3:129417340 C
C
 A
A
 112 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(109): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0003g0005
a0001c0001t0003g0012
a0001c0001t0003g0013
a0001c0001t0003g0040
a0001c0001t0003g0041
a0001c0001t0003g0042
a0001c0001t0003g0043
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0246
a0001c0001t0003g0247
a0001c0001t0003g0248
a0001c0001t0003g0249
a0001c0001t0003g0250
a0001c0001t0003g0251
a0001c0001t0003g0252
a0001c0001t0003g0253
a0001c0001t0003g0254
a0001c0001t0003g0255
a0001c0001t0003g0256
a0001c0001t0003g0257
a0001c0001t0003g0258
a0001c0001t0005g0259
a0001c0007t0001g0112
a0001c0007t0001g0239
a0001c0020t0001g0240
a0002c0002t0001g0081
a0002c0002t0001g0143
a0003c0003t0002g0006
a0003c0003t0002g0017
a0003c0003t0002g0018
a0003c0003t0002g0036
a0003c0003t0002g0099
a0003c0003t0002g0100
a0003c0003t0002g0110
a0003c0003t0002g0156
a0003c0003t0002g0168
a0003c0003t0002g0169
a0003c0003t0002g0170
a0003c0003t0002g0171
a0003c0003t0002g0172
a0003c0003t0002g0173
a0003c0003t0002g0174
a0003c0003t0002g0175
a0003c0003t0002g0179
a0003c0003t0002g0189
a0003c0003t0002g0190
a0003c0003t0002g0191
a0004c0004t0001g0044
a0004c0004t0001g0046
a0004c0004t0001g0223
a0004c0004t0001g0224
a0007c0008t0001g0014
a0007c0008t0001g0029
a0007c0008t0001g0094
a0014c0023t0004g0243
 178 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(175): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02735.hp1
HG02895.hp1
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18612.hp2
NA18747.hp1
NA18942.hp1
NA18944.hp2
NA18947.hp1
NA18950.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp2
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18988.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA19000.hp1
NA19001.hp2
NA19002.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19056.hp2
NA19057.hp2
NA19058.hp1
NA19063.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19079.hp1
NA19081.hp1
NA19084.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.681+914G>T
c.681+914G>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417340
chr3:129417341 C
C
 A
A
 125 a0001c0001t0001g0060
a0001c0001t0001g0079
a0001c0001t0001g0082
others(122): Show 
a0001c0001t0001g0060
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0101
a0001c0001t0001g0108
a0001c0001t0001g0158
a0001c0001t0001g0167
a0001c0001t0001g0192
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0001c0007t0001g0239
a0001c0020t0001g0240
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0003c0003t0002g0176
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0009c0010t0001g0152
a0009c0010t0001g0155
a0009c0010t0001g0157
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
a0012c0012t0001g0181
a0012c0012t0001g0182
a0013c0014t0001g0102
a0013c0014t0001g0122
a0015c0022t0002g0196
a0016c0017t0001g0121
a0018c0021t0001g0133
 178 HG00140.hp1
HG00408.hp1
HG00544.hp1
others(175): Show 
HG00140.hp1
HG00408.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03688.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp2
NA18955.hp2
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.681+913G>T
c.681+913G>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417341
chr3:129417343 A
A
 C
C
 2 a0002c0002t0001g0081
a0002c0002t0001g0143
a0002c0002t0001g0081
a0002c0002t0001g0143
 2 NA18979.hp1
NA18988.hp2
NA18979.hp1
NA18988.hp2
 intron_variant MODIFIER c.681+911T>G
c.681+911T>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417343
chr3:129417344 A
A
 C
C
 46 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(43): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0238
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 78 HG00544.hp1
HG00558.hp1
HG00597.hp1
others(75): Show 
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02723.hp1
HG03490.hp1
HG03492.hp1
HG03654.hp1
HG03710.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
 intron_variant MODIFIER c.681+910T>G
c.681+910T>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417344
chr3:129417346 A
A
 G
G
 1 a0001c0007t0001g0233
a0001c0007t0001g0233
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.681+908T>C
c.681+908T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417346
chr3:129417362 CA
CA
 C
C
 44 a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0066
others(41): Show 
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0066
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0003g0247
a0001c0007t0001g0112
a0001c0007t0001g0239
a0001c0018t0001g0161
a0001c0020t0001g0240
a0003c0003t0002g0006
a0003c0003t0002g0017
a0003c0003t0002g0018
a0003c0003t0002g0036
a0003c0003t0002g0099
a0003c0003t0002g0100
a0003c0003t0002g0156
a0003c0003t0002g0168
a0003c0003t0002g0169
a0003c0003t0002g0170
a0003c0003t0002g0171
a0003c0003t0002g0172
a0003c0003t0002g0173
a0003c0003t0002g0174
a0003c0003t0002g0175
a0003c0003t0002g0176
a0003c0003t0002g0179
a0003c0003t0002g0189
a0003c0003t0002g0190
a0003c0003t0002g0191
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0012c0012t0001g0181
a0012c0012t0001g0182
a0014c0023t0004g0243
a0017c0019t0001g0151
 60 HG00423.hp1
HG00621.hp1
HG00639.hp2
others(57): Show 
HG00423.hp1
HG00621.hp1
HG00639.hp2
HG00735.hp1
HG01069.hp1
HG01071.hp2
HG01496.hp1
HG01515.hp1
HG01981.hp1
HG02071.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02257.hp1
HG02280.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03669.hp1
HG03942.hp2
NA18612.hp2
NA18952.hp1
NA18956.hp2
NA18957.hp1
NA18962.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18989.hp2
NA18992.hp2
NA18997.hp2
NA19005.hp1
NA19007.hp2
NA19011.hp2
NA19055.hp1
NA19056.hp2
NA19058.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19081.hp1
NA19084.hp2
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.681+891delT
c.681+891delT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417362
chr3:129417362 CAA
CAA
 C
C
 49 a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
others(46): Show 
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
a0015c0022t0002g0196
 67 HG00140.hp1
HG00408.hp1
HG00621.hp2
others(64): Show 
HG00140.hp1
HG00408.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02615.hp2
HG02630.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03491.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18952.hp2
NA19043.hp1
NA19060.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.681+890_681+891del
others(2): Show 
c.681+890_681+891delTT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417362
chr3:129417362 CAAA
CAAA
 C
C
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.681+889_681+891del
others(3): Show 
c.681+889_681+891delTTT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417362
chr3:129417508 G
G
 T
T
 3 a0001c0001t0001g0054
a0001c0001t0001g0065
a0001c0001t0001g0080
a0001c0001t0001g0054
a0001c0001t0001g0065
a0001c0001t0001g0080
 3 HG02293.hp2
NA18955.hp1
NA18994.hp2
HG02293.hp2
NA18955.hp1
NA18994.hp2
 intron_variant MODIFIER c.681+746C>A
c.681+746C>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417508
chr3:129417807 T
T
 TAGAAATA
others(323): Show 
TAGAAATACAGCATCTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC
CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG
ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA
TTAGCCGGGCGCGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCT
GAGGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGAGCTTGCAGTGAGCC
GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0001g0167
a0001c0001t0001g0167
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.681+446_681+447ins
others(330): Show 
c.681+446_681+447insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG
AGTCTTGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT
CGGCTCACTGCAAGCTCTCTGCTTCCCGGGTTCACGCCATTCTCCTGCCT
CAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCGCGCCCGGCTA
ATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG
TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT
GGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAAAGATGCTGTATTTCT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417807
chr3:129417807 T
T
 TAGAAATA
others(328): Show 
TAGAAATACAGCATCTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC
CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG
ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA
TTAGCCGGGCGCGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCT
GAGGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGAGCTTGCAGTGAGCC
GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0017c0019t0001g0151
a0017c0019t0001g0151
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.681+446_681+447ins
others(335): Show 
c.681+446_681+447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA
GACGGAGTCTTGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC
AATCTCGGCTCACTGCAAGCTCTCTGCTTCCCGGGTTCACGCCATTCTCC
TGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCGCGCCC
GGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAG
GATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAA
GTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAAAGATGCTGTA
TTTCT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417807
chr3:129417807 T
T
 TAGAAATA
others(329): Show 
TAGAAATACAGCATCTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC
CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG
ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA
TTAGCCGGGCGCGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCT
GAGGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGAGCTTGCAGTGAGCC
GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 2 a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0164
a0001c0001t0001g0165
 2 NA18952.hp1
NA18973.hp2
NA18952.hp1
NA18973.hp2
 intron_variant MODIFIER c.681+446_681+447ins
others(336): Show 
c.681+446_681+447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG
AGACGGAGTCTTGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCG
CAATCTCGGCTCACTGCAAGCTCTCTGCTTCCCGGGTTCACGCCATTCTC
CTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCGCGCC
CGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCA
GGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA
AGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAAAGATGCTGT
ATTTCT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417807
chr3:129417807 T
T
 TAGAAATA
others(330): Show 
TAGAAATACAGCATCTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC
CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG
ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA
TTAGCCGGGCGCGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCT
GAGGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGAGCTTGCAGTGAGCC
GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0001g0160
a0001c0001t0001g0160
 1 NA18956.hp2
NA18956.hp2
 intron_variant MODIFIER c.681+446_681+447ins
others(337): Show 
c.681+446_681+447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GAGACGGAGTCTTGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGC
GCAATCTCGGCTCACTGCAAGCTCTCTGCTTCCCGGGTTCACGCCATTCT
CCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCGCGC
CCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC
AGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCA
AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAAAGATGCTG
TATTTCT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417807
chr3:129417807 T
T
 TAGAAATA
others(344): Show 
TAGAAATACAGCATCTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC
CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG
ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA
TTAGCCGGGCGCGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCT
GAGGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGAGCTTGCAGTGAGCC
GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AA
 1 a0012c0012t0001g0181
a0012c0012t0001g0181
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.681+446_681+447ins
others(351): Show 
c.681+446_681+447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCCGGACTG
CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTCTGCTTCCCGG
GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGC
GCCCGCCACCGCGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTT
TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC
GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG
GCCAAAAGATGCTGTATTTCT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417807
chr3:129417807 T
T
 TAGAAATA
others(345): Show 
TAGAAATACAGCATCTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC
CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG
ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA
TTAGCCGGGCGCGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCT
GAGGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGAGCTTGCAGTGAGCC
GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAA
 2 a0001c0001t0001g0034
a0001c0001t0001g0162
a0001c0001t0001g0034
a0001c0001t0001g0162
 3 HG01069.hp1
HG01071.hp2
HG01515.hp1
HG01069.hp1
HG01071.hp2
HG01515.hp1
 intron_variant MODIFIER c.681+446_681+447ins
others(352): Show 
c.681+446_681+447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCCGGACT
GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTCTGCTTCCCG
GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGG
CGCCCGCCACCGCGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGT
TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC
CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC
GGCCAAAAGATGCTGTATTTCT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417807
chr3:129417807 T
T
 TAGAAATA
others(346): Show 
TAGAAATACAGCATCTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC
CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG
ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA
TTAGCCGGGCGCGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCT
GAGGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGAGCTTGCAGTGAGCC
GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAA
 2 a0001c0001t0001g0035
a0001c0001t0001g0163
a0001c0001t0001g0035
a0001c0001t0001g0163
 3 HG02698.hp1
HG02735.hp2
HG03942.hp2
HG02698.hp1
HG02735.hp2
HG03942.hp2
 intron_variant MODIFIER c.681+446_681+447ins
others(353): Show 
c.681+446_681+447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCCGGAC
TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTCTGCTTCCC
GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAG
GCGCCCGCCACCGCGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGG
TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC
CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC
CGGCCAAAAGATGCTGTATTTCT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417807
chr3:129417807 T
T
 TAGAAATA
others(347): Show 
TAGAAATACAGCATCTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC
CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG
ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA
TTAGCCGGGCGCGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCT
GAGGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGAGCTTGCAGTGAGCC
GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAA
 1 a0012c0012t0001g0182
a0012c0012t0001g0182
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.681+446_681+447ins
others(354): Show 
c.681+446_681+447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCCGGA
CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTCTGCTTCC
CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACA
GGCGCCCGCCACCGCGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGG
GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA
CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC
CCGGCCAAAAGATGCTGTATTTCT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417807
chr3:129417807 T
T
 TAGAAATA
others(348): Show 
TAGAAATACAGCATCTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC
CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG
ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA
TTAGCCGGGCGCGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCT
GAGGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGAGCTTGCAGTGAGCC
GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAA
 1 a0001c0001t0001g0166
a0001c0001t0001g0166
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.681+446_681+447ins
others(355): Show 
c.681+446_681+447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCCGG
ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTCTGCTTC
CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTAC
AGGCGCCCGCCACCGCGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGG
GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC
ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG
CCCGGCCAAAAGATGCTGTATTTCT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417807
chr3:129417807 T
T
 TAGAAATA
others(355): Show 
TAGAAATACAGCATCTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC
CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG
ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA
TTAGCCGGGCGCGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCT
GAGGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGAGCTTGCAGTGAGCC
GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAAAAAAA
 1 a0001c0018t0001g0161
a0001c0018t0001g0161
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.681+446_681+447ins
others(362): Show 
c.681+446_681+447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCC
AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCT
CTGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG
GGATTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTGTATTTTTAGTA
GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC
ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC
CACCGCGCCCGGCCAAAAGATGCTGTATTTCT
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417807
chr3:129417863 C
C
 T
T
 2 a0001c0001t0001g0027
a0001c0001t0001g0083
a0001c0001t0001g0027
a0001c0001t0001g0083
 3 HG00323.hp1
HG03704.hp1
NA20752.hp1
HG00323.hp1
HG03704.hp1
NA20752.hp1
 intron_variant MODIFIER c.681+391G>A
c.681+391G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417863
chr3:129417902 G
G
 A
A
 12 a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0160
others(9): Show 
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0018t0001g0161
a0012c0012t0001g0181
a0012c0012t0001g0182
 14 HG01069.hp1
HG01071.hp2
HG01515.hp1
others(11): Show 
HG01069.hp1
HG01071.hp2
HG01515.hp1
HG02257.hp1
HG02698.hp1
HG02735.hp2
HG02922.hp2
HG03041.hp1
HG03942.hp2
NA18952.hp1
NA18956.hp2
NA18973.hp2
NA18992.hp2
NA20805.hp1
 intron_variant MODIFIER c.681+352C>T
c.681+352C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417902
chr3:129417931 T
T
 C
C
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.681+323A>G
c.681+323A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417931
chr3:129417944 T
T
 C
C
 13 a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0160
others(10): Show 
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0018t0001g0161
a0012c0012t0001g0181
a0012c0012t0001g0182
a0017c0019t0001g0151
 15 HG01069.hp1
HG01071.hp2
HG01515.hp1
others(12): Show 
HG01069.hp1
HG01071.hp2
HG01515.hp1
HG02257.hp1
HG02698.hp1
HG02735.hp2
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03942.hp2
NA18952.hp1
NA18956.hp2
NA18973.hp2
NA18992.hp2
NA20805.hp1
 intron_variant MODIFIER c.681+310A>G
c.681+310A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417944
chr3:129417965 T
T
 C
C
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.681+289A>G
c.681+289A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417965
chr3:129417990 G
G
 T
T
 1 a0001c0001t0003g0257
a0001c0001t0003g0257
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.681+264C>A
c.681+264C>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129417990
chr3:129418093 T
T
 C
C
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.681+161A>G
c.681+161A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129418093
chr3:129418180 C
C
 T
T
 3 a0001c0001t0001g0054
a0001c0001t0001g0065
a0001c0001t0001g0080
a0001c0001t0001g0054
a0001c0001t0001g0065
a0001c0001t0001g0080
 3 HG02293.hp2
NA18955.hp1
NA18994.hp2
HG02293.hp2
NA18955.hp1
NA18994.hp2
 intron_variant MODIFIER c.681+74G>A
c.681+74G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129418180
chr3:129418181 G
G
 A
A
 1 a0002c0002t0001g0144
a0002c0002t0001g0144
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.681+73C>T
c.681+73C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129418181
chr3:129418182 G
G
 A
A
 34 a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
others(31): Show 
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
 50 HG00140.hp1
HG00408.hp1
HG00621.hp2
others(47): Show 
HG00140.hp1
HG00408.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02630.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03688.hp2
HG03927.hp2
HG04204.hp1
NA18906.hp1
NA18906.hp2
NA19060.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.681+72C>T
c.681+72C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 3/8 chr3 129418182
chr3:129418504 C
C
 T
T
 4 a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0162
others(1): Show 
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0162
a0001c0001t0001g0163
 6 HG01069.hp1
HG01071.hp2
HG01515.hp1
others(3): Show 
HG01069.hp1
HG01071.hp2
HG01515.hp1
HG02698.hp1
HG02735.hp2
HG03942.hp2
 intron_variant MODIFIER c.487-56G>A
c.487-56G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129418504
chr3:129418787 G
G
 C
C
 1 a0017c0019t0001g0151
a0017c0019t0001g0151
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.487-339C>G
c.487-339C>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129418787
chr3:129418813 G
G
 T
T
 15 a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
others(12): Show 
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0015c0022t0002g0196
 17 HG01255.hp2
HG02055.hp2
HG02083.hp2
others(14): Show 
HG01255.hp2
HG02055.hp2
HG02083.hp2
HG02135.hp2
HG02559.hp2
HG02615.hp2
HG03453.hp1
HG03491.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
NA18522.hp1
NA18952.hp2
NA19043.hp1
NA19240.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.487-365C>A
c.487-365C>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129418813
chr3:129418894 C
C
 G
G
 4 a0002c0002t0001g0125
a0002c0002t0001g0180
a0002c0002t0001g0211
others(1): Show 
a0002c0002t0001g0125
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0238
 4 HG01123.hp2
HG02486.hp1
HG02723.hp1
others(1): Show 
HG01123.hp2
HG02486.hp1
HG02723.hp1
NA19240.hp2
 intron_variant MODIFIER c.487-446G>C
c.487-446G>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129418894
chr3:129418903 A
A
 G
G
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.487-455T>C
c.487-455T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129418903
chr3:129418921 G
G
 T
T
 1 a0001c0001t0001g0158
a0001c0001t0001g0158
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.487-473C>A
c.487-473C>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129418921
chr3:129418959 G
G
 A
A
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.487-511C>T
c.487-511C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129418959
chr3:129419015 A
A
 C
C
 2 a0004c0004t0001g0044
a0004c0004t0001g0046
a0004c0004t0001g0044
a0004c0004t0001g0046
 2 HG01891.hp2
NA19043.hp2
HG01891.hp2
NA19043.hp2
 intron_variant MODIFIER c.487-567T>G
c.487-567T>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129419015
chr3:129419015 A
A
 G
G
 99 a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
others(96): Show 
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0001c0007t0001g0239
a0001c0020t0001g0240
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 153 HG00140.hp1
HG00408.hp1
HG00544.hp1
others(150): Show 
HG00140.hp1
HG00408.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03688.hp2
HG03710.hp1
HG03927.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-567T>C
c.487-567T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129419015
chr3:129419279 T
T
 C
C
 5 a0004c0004t0001g0044
a0004c0004t0001g0046
a0008c0009t0001g0010
others(2): Show 
a0004c0004t0001g0044
a0004c0004t0001g0046
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
 8 HG01891.hp2
HG02109.hp1
HG02280.hp1
others(5): Show 
HG01891.hp2
HG02109.hp1
HG02280.hp1
HG02572.hp2
HG02615.hp1
HG02818.hp2
HG03209.hp2
NA19043.hp2
 intron_variant MODIFIER c.487-831A>G
c.487-831A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129419279
chr3:129419441 A
A
 G
G
 5 a0004c0004t0001g0044
a0004c0004t0001g0046
a0008c0009t0001g0010
others(2): Show 
a0004c0004t0001g0044
a0004c0004t0001g0046
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
 8 HG01891.hp2
HG02109.hp1
HG02280.hp1
others(5): Show 
HG01891.hp2
HG02109.hp1
HG02280.hp1
HG02572.hp2
HG02615.hp1
HG02818.hp2
HG03209.hp2
NA19043.hp2
 intron_variant MODIFIER c.487-993T>C
c.487-993T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129419441
chr3:129419461 G
G
 A
A
 2 a0001c0001t0001g0027
a0001c0001t0001g0083
a0001c0001t0001g0027
a0001c0001t0001g0083
 3 HG00323.hp1
HG03704.hp1
NA20752.hp1
HG00323.hp1
HG03704.hp1
NA20752.hp1
 intron_variant MODIFIER c.487-1013C>T
c.487-1013C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129419461
chr3:129419465 G
G
 A
A
 36 a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
others(33): Show 
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0001c0007t0001g0239
a0001c0020t0001g0240
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
 52 HG00140.hp1
HG00408.hp1
HG00621.hp2
others(49): Show 
HG00140.hp1
HG00408.hp1
HG00621.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02630.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03688.hp2
HG03927.hp2
HG04204.hp1
NA18906.hp1
NA18906.hp2
NA19060.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487-1017C>T
c.487-1017C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129419465
chr3:129419642 G
G
 A
A
 12 a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0160
others(9): Show 
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0018t0001g0161
a0012c0012t0001g0181
a0012c0012t0001g0182
 14 HG01069.hp1
HG01071.hp2
HG01515.hp1
others(11): Show 
HG01069.hp1
HG01071.hp2
HG01515.hp1
HG02257.hp1
HG02698.hp1
HG02735.hp2
HG02922.hp2
HG03041.hp1
HG03942.hp2
NA18952.hp1
NA18956.hp2
NA18973.hp2
NA18992.hp2
NA20805.hp1
 intron_variant MODIFIER c.487-1194C>T
c.487-1194C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129419642
chr3:129419756 A
A
 C
C
 1 a0004c0004t0001g0218
a0004c0004t0001g0218
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.487-1308T>G
c.487-1308T>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129419756
chr3:129419810 G
G
 A
A
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.487-1362C>T
c.487-1362C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129419810
chr3:129419918 T
T
 C
C
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.486+1449A>G
c.486+1449A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129419918
chr3:129419960 G
G
 C
C
 1 a0004c0004t0001g0224
a0004c0004t0001g0224
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.486+1407C>G
c.486+1407C>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129419960
chr3:129420168 C
C
 T
T
 2 a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0063
a0001c0001t0001g0064
 2 HG00609.hp1
NA18979.hp2
HG00609.hp1
NA18979.hp2
 intron_variant MODIFIER c.486+1199G>A
c.486+1199G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129420168
chr3:129420186 G
G
 T
T
 5 a0004c0004t0001g0044
a0004c0004t0001g0046
a0008c0009t0001g0010
others(2): Show 
a0004c0004t0001g0044
a0004c0004t0001g0046
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
 8 HG01891.hp2
HG02109.hp1
HG02280.hp1
others(5): Show 
HG01891.hp2
HG02109.hp1
HG02280.hp1
HG02572.hp2
HG02615.hp1
HG02818.hp2
HG03209.hp2
NA19043.hp2
 intron_variant MODIFIER c.486+1181C>A
c.486+1181C>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129420186
chr3:129420256 C
C
 T
T
 2 a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0123
a0002c0002t0001g0124
 2 HG02165.hp2
NA18951.hp1
HG02165.hp2
NA18951.hp1
 intron_variant MODIFIER c.486+1111G>A
c.486+1111G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129420256
chr3:129420338 A
A
 G
G
 1 a0008c0009t0001g0048
a0008c0009t0001g0048
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.486+1029T>C
c.486+1029T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129420338
chr3:129420423 A
A
 G
G
 2 a0001c0007t0001g0239
a0001c0020t0001g0240
a0001c0007t0001g0239
a0001c0020t0001g0240
 2 HG00735.hp1
HG03471.hp1
HG00735.hp1
HG03471.hp1
 intron_variant MODIFIER c.486+944T>C
c.486+944T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129420423
chr3:129420444 A
A
 G
G
 1 a0001c0001t0003g0244
a0001c0001t0003g0244
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.486+923T>C
c.486+923T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129420444
chr3:129420474 A
A
 G
G
 1 a0001c0020t0001g0240
a0001c0020t0001g0240
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.486+893T>C
c.486+893T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129420474
chr3:129420477 A
A
 G
G
 164 a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0037
others(161): Show 
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0111
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0002g0019
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0007t0001g0112
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0001c0007t0001g0239
a0001c0018t0001g0161
a0001c0020t0001g0240
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0003c0003t0002g0006
a0003c0003t0002g0017
a0003c0003t0002g0018
a0003c0003t0002g0036
a0003c0003t0002g0099
a0003c0003t0002g0100
a0003c0003t0002g0110
a0003c0003t0002g0156
a0003c0003t0002g0168
a0003c0003t0002g0169
a0003c0003t0002g0170
a0003c0003t0002g0171
a0003c0003t0002g0172
a0003c0003t0002g0173
a0003c0003t0002g0174
a0003c0003t0002g0175
a0003c0003t0002g0176
a0003c0003t0002g0179
a0003c0003t0002g0189
a0003c0003t0002g0190
a0003c0003t0002g0191
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
a0012c0012t0001g0181
a0012c0012t0001g0182
a0013c0014t0001g0102
a0013c0014t0001g0122
a0014c0023t0004g0243
a0015c0022t0002g0196
a0016c0017t0001g0121
a0017c0019t0001g0151
a0018c0021t0001g0133
 236 HG00140.hp1
HG00408.hp1
HG00423.hp1
others(233): Show 
HG00140.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.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
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.486+890T>C
c.486+890T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129420477
chr3:129420579 A
A
 G
G
 1 a0001c0001t0001g0023
a0001c0001t0001g0023
 2 HG01934.hp2
HG01981.hp2
HG01934.hp2
HG01981.hp2
 intron_variant MODIFIER c.486+788T>C
c.486+788T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129420579
chr3:129420729 CCTTT
CCTTT
 C
C
 6 a0001c0001t0001g0111
a0001c0001t0001g0185
a0001c0001t0002g0019
others(3): Show 
a0001c0001t0001g0111
a0001c0001t0001g0185
a0001c0001t0002g0019
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
 8 HG02559.hp1
HG02647.hp2
HG02717.hp2
others(5): Show 
HG02559.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02970.hp1
HG02976.hp2
HG03516.hp2
HG03579.hp1
 intron_variant MODIFIER c.486+634_486+637del
others(4): Show 
c.486+634_486+637delAAAG
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129420729
chr3:129420870 C
C
 G
G
 2 a0013c0014t0001g0102
a0013c0014t0001g0122
a0013c0014t0001g0102
a0013c0014t0001g0122
 2 HG02280.hp2
NA19030.hp2
HG02280.hp2
NA19030.hp2
 intron_variant MODIFIER c.486+497G>C
c.486+497G>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129420870
chr3:129421225 T
T
 G
G
 3 a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0002g0045
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0002g0045
 5 HG02622.hp1
HG02896.hp2
HG02922.hp1
others(2): Show 
HG02622.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
 intron_variant MODIFIER c.486+142A>C
c.486+142A>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129421225
chr3:129421325 C
C
 T
T
 1 a0002c0002t0001g0030
a0002c0002t0001g0030
 2 NA18995.hp1
NA19057.hp1
NA18995.hp1
NA19057.hp1
 intron_variant MODIFIER c.486+42G>A
c.486+42G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129421325
chr3:129421358 G
G
 A
A
 1 a0002c0002t0001g0047
a0002c0002t0001g0047
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.486+9C>T
c.486+9C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 2/8 chr3 129421358
chr3:129421895 A
A
 T
T
 130 a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0160
others(127): Show 
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0007t0001g0112
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0001c0007t0001g0239
a0001c0018t0001g0161
a0001c0020t0001g0240
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0044
a0004c0004t0001g0046
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
a0012c0012t0001g0181
a0012c0012t0001g0182
a0013c0014t0001g0102
a0013c0014t0001g0122
a0015c0022t0002g0196
a0016c0017t0001g0121
a0017c0019t0001g0151
a0018c0021t0001g0133
 188 HG00140.hp1
HG00408.hp1
HG00544.hp1
others(185): Show 
HG00140.hp1
HG00408.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03688.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.50-92T>A
c.50-92T>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129421895
chr3:129421925 T
T
 C
C
 1 a0004c0004t0001g0224
a0004c0004t0001g0224
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.50-122A>G
c.50-122A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129421925
chr3:129421944 G
G
 A
A
 1 a0002c0002t0001g0145
a0002c0002t0001g0145
 1 NA18981.hp2
NA18981.hp2
 intron_variant MODIFIER c.50-141C>T
c.50-141C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129421944
chr3:129421952 A
A
 G
G
 1 a0014c0023t0004g0243
a0014c0023t0004g0243
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.50-149T>C
c.50-149T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129421952
chr3:129421999 A
A
 G
G
 9 a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0160
others(6): Show 
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0018t0001g0161
 11 HG01069.hp1
HG01071.hp2
HG01515.hp1
others(8): Show 
HG01069.hp1
HG01071.hp2
HG01515.hp1
HG02698.hp1
HG02735.hp2
HG03942.hp2
NA18952.hp1
NA18956.hp2
NA18973.hp2
NA18992.hp2
NA20805.hp1
 intron_variant MODIFIER c.50-196T>C
c.50-196T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129421999
chr3:129422060 T
T
 C
C
 28 a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
others(25): Show 
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0044
a0004c0004t0001g0046
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
 35 HG00140.hp1
HG00408.hp1
HG00621.hp2
others(32): Show 
HG00140.hp1
HG00408.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp1
HG02809.hp1
HG02886.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03688.hp2
HG03927.hp2
HG04204.hp1
NA18906.hp2
NA19043.hp2
NA19060.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.50-257A>G
c.50-257A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129422060
chr3:129422156 G
G
 A
A
 1 a0014c0023t0004g0243
a0014c0023t0004g0243
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.50-353C>T
c.50-353C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129422156
chr3:129422183 C
C
 T
T
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.50-380G>A
c.50-380G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129422183
chr3:129422579 C
C
 T
T
 3 a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
 6 HG02109.hp1
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02109.hp1
HG02280.hp1
HG02572.hp2
HG02615.hp1
HG02818.hp2
HG03209.hp2
 intron_variant MODIFIER c.50-776G>A
c.50-776G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129422579
chr3:129422617 T
T
 A
A
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG02293.hp2
HG02293.hp2
 intron_variant MODIFIER c.50-814A>T
c.50-814A>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129422617
chr3:129422816 T
T
 A
A
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.50-1013A>T
c.50-1013A>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129422816
chr3:129422886 T
T
 C
C
 59 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(56): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 94 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(91): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.50-1083A>G
c.50-1083A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129422886
chr3:129422928 A
A
 G
G
 15 a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
others(12): Show 
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0015c0022t0002g0196
 17 HG01255.hp2
HG02055.hp2
HG02083.hp2
others(14): Show 
HG01255.hp2
HG02055.hp2
HG02083.hp2
HG02135.hp2
HG02559.hp2
HG02615.hp2
HG03453.hp1
HG03491.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
NA18522.hp1
NA18952.hp2
NA19043.hp1
NA19240.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.50-1125T>C
c.50-1125T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129422928
chr3:129422957 T
T
 G
G
 2 a0004c0004t0001g0217
a0004c0004t0001g0230
a0004c0004t0001g0217
a0004c0004t0001g0230
 2 HG00621.hp2
NA19060.hp1
HG00621.hp2
NA19060.hp1
 intron_variant MODIFIER c.50-1154A>C
c.50-1154A>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129422957
chr3:129423040 T
T
 C
C
 3 a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
 6 HG02109.hp1
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02109.hp1
HG02280.hp1
HG02572.hp2
HG02615.hp1
HG02818.hp2
HG03209.hp2
 intron_variant MODIFIER c.50-1237A>G
c.50-1237A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129423040
chr3:129423043 ACAGACCT
others(32): Show 
ACAGACCTATGATGCTGGTACTATGATTATGCCCATTTTG
 A
A
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.50-1279_50-1241del
others(39): Show 
c.50-1279_50-1241delCAAAATGGGCATAATCATAGTACCAGCATC
ATAGGTCTG
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129423043
chr3:129423051 A
A
 G
G
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.50-1248T>C
c.50-1248T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129423051
chr3:129423053 G
G
 A
A
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.50-1250C>T
c.50-1250C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129423053
chr3:129423321 G
G
 A
A
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.50-1518C>T
c.50-1518C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129423321
chr3:129423428 G
G
 A
A
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.50-1625C>T
c.50-1625C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129423428
chr3:129423428 G
G
 T
T
 36 a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
others(33): Show 
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0044
a0004c0004t0001g0046
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
 52 HG00140.hp1
HG00408.hp1
HG00621.hp2
others(49): Show 
HG00140.hp1
HG00408.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02630.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03688.hp2
HG03927.hp2
HG04204.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA19060.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.50-1625C>A
c.50-1625C>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129423428
chr3:129423456 A
A
 G
G
 2 a0004c0004t0001g0044
a0004c0004t0001g0046
a0004c0004t0001g0044
a0004c0004t0001g0046
 2 HG01891.hp2
NA19043.hp2
HG01891.hp2
NA19043.hp2
 intron_variant MODIFIER c.50-1653T>C
c.50-1653T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129423456
chr3:129423461 T
T
 C
C
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.50-1658A>G
c.50-1658A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129423461
chr3:129423511 G
G
 A
A
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.50-1708C>T
c.50-1708C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129423511
chr3:129423535 G
G
 A
A
 3 a0007c0008t0001g0014
a0007c0008t0001g0029
a0007c0008t0001g0094
a0007c0008t0001g0014
a0007c0008t0001g0029
a0007c0008t0001g0094
 6 HG00280.hp1
HG00642.hp2
HG00741.hp2
others(3): Show 
HG00280.hp1
HG00642.hp2
HG00741.hp2
HG01099.hp2
HG02300.hp1
HG02698.hp2
 intron_variant MODIFIER c.50-1732C>T
c.50-1732C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129423535
chr3:129423568 C
C
 T
T
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.50-1765G>A
c.50-1765G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129423568
chr3:129423587 G
G
 A
A
 2 a0001c0007t0001g0239
a0001c0020t0001g0240
a0001c0007t0001g0239
a0001c0020t0001g0240
 2 HG00735.hp1
HG03471.hp1
HG00735.hp1
HG03471.hp1
 intron_variant MODIFIER c.50-1784C>T
c.50-1784C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129423587
chr3:129423610 C
C
 G
G
 1 a0014c0023t0004g0243
a0014c0023t0004g0243
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.50-1807G>C
c.50-1807G>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129423610
chr3:129423633 T
T
 A
A
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.50-1830A>T
c.50-1830A>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129423633
chr3:129423634 T
T
 A
A
 60 a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
others(57): Show 
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(92): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.50-1831A>T
c.50-1831A>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129423634
chr3:129423806 C
C
 A
A
 13 a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0039
others(10): Show 
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0002g0045
a0002c0002t0002g0226
 16 HG00544.hp2
HG01884.hp2
HG02015.hp1
others(13): Show 
HG00544.hp2
HG01884.hp2
HG02015.hp1
HG02056.hp2
HG02622.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03516.hp1
HG04228.hp1
NA18950.hp1
NA18999.hp1
NA19066.hp1
NA21309.hp1
 intron_variant MODIFIER c.50-2003G>T
c.50-2003G>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129423806
chr3:129423867 C
C
 A
A
 1 a0001c0001t0001g0095
a0001c0001t0001g0095
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.50-2064G>T
c.50-2064G>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129423867
chr3:129423898 T
T
 C
C
 121 a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0160
others(118): Show 
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0007t0001g0112
a0001c0007t0001g0232
a0001c0007t0001g0237
a0001c0007t0001g0239
a0001c0018t0001g0161
a0001c0020t0001g0240
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0044
a0004c0004t0001g0046
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
a0012c0012t0001g0181
a0012c0012t0001g0182
a0013c0014t0001g0102
a0013c0014t0001g0122
a0014c0023t0004g0243
a0015c0022t0002g0196
a0016c0017t0001g0121
a0017c0019t0001g0151
a0018c0021t0001g0133
 179 HG00408.hp1
HG00544.hp1
HG00544.hp2
others(176): Show 
HG00408.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03688.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.50-2095A>G
c.50-2095A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129423898
chr3:129424046 C
C
 G
G
 5 a0009c0010t0001g0107
a0009c0010t0001g0152
a0009c0010t0001g0154
others(2): Show 
a0009c0010t0001g0107
a0009c0010t0001g0152
a0009c0010t0001g0154
a0009c0010t0001g0155
a0009c0010t0001g0157
 5 HG01109.hp2
HG03209.hp1
HG03225.hp1
others(2): Show 
HG01109.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
NA19030.hp1
 intron_variant MODIFIER c.50-2243G>C
c.50-2243G>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129424046
chr3:129424108 C
C
 G
G
 28 a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0160
others(25): Show 
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0018t0001g0161
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0012c0012t0001g0181
a0012c0012t0001g0182
a0015c0022t0002g0196
a0017c0019t0001g0151
 32 HG01069.hp1
HG01071.hp2
HG01255.hp2
others(29): Show 
HG01069.hp1
HG01071.hp2
HG01255.hp2
HG01515.hp1
HG02055.hp2
HG02083.hp2
HG02135.hp2
HG02257.hp1
HG02559.hp2
HG02615.hp2
HG02698.hp1
HG02735.hp2
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03453.hp1
HG03491.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
NA18522.hp1
NA18952.hp1
NA18952.hp2
NA18956.hp2
NA18973.hp2
NA18992.hp2
NA19043.hp1
NA19240.hp1
NA20300.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.50-2305G>C
c.50-2305G>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129424108
chr3:129424132 A
A
 ACTGTGTC
others(15): Show 
ACTGTGTCTTAGTTCCCCTGTGT
 5 a0009c0010t0001g0107
a0009c0010t0001g0152
a0009c0010t0001g0154
others(2): Show 
a0009c0010t0001g0107
a0009c0010t0001g0152
a0009c0010t0001g0154
a0009c0010t0001g0155
a0009c0010t0001g0157
 5 HG01109.hp2
HG03209.hp1
HG03225.hp1
others(2): Show 
HG01109.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
NA19030.hp1
 intron_variant MODIFIER c.50-2351_50-2330dup
others(22): Show 
c.50-2351_50-2330dupACACAGGGGAACTAAGACACAG
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129424132
chr3:129424234 G
G
 T
T
 91 a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
others(88): Show 
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0044
a0004c0004t0001g0046
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 136 HG00140.hp1
HG00408.hp1
HG00544.hp1
others(133): Show 
HG00140.hp1
HG00408.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03688.hp2
HG03710.hp1
HG03927.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.50-2431C>A
c.50-2431C>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129424234
chr3:129424248 G
G
 T
T
 126 a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0160
others(123): Show 
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0001c0007t0001g0239
a0001c0018t0001g0161
a0001c0020t0001g0240
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0044
a0004c0004t0001g0046
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0194
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
a0013c0014t0001g0102
a0013c0014t0001g0122
a0014c0023t0004g0243
a0015c0022t0002g0196
a0016c0017t0001g0121
a0017c0019t0001g0151
a0018c0021t0001g0133
 184 HG00140.hp1
HG00408.hp1
HG00544.hp1
others(181): Show 
HG00140.hp1
HG00408.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03688.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.50-2445C>A
c.50-2445C>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129424248
chr3:129424260 T
T
 C
C
 15 a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
others(12): Show 
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0015c0022t0002g0196
 17 HG01255.hp2
HG02055.hp2
HG02083.hp2
others(14): Show 
HG01255.hp2
HG02055.hp2
HG02083.hp2
HG02135.hp2
HG02559.hp2
HG02615.hp2
HG03453.hp1
HG03491.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
NA18522.hp1
NA18952.hp2
NA19043.hp1
NA19240.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.50-2457A>G
c.50-2457A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129424260
chr3:129424309 A
A
 G
G
 32 a0001c0001t0001g0192
a0001c0007t0001g0212
a0001c0007t0001g0231
others(29): Show 
a0001c0001t0001g0192
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0044
a0004c0004t0001g0046
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
 42 HG00140.hp1
HG00408.hp1
HG00621.hp2
others(39): Show 
HG00140.hp1
HG00408.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp1
HG02572.hp2
HG02615.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03688.hp2
HG03927.hp2
HG04204.hp1
NA18906.hp2
NA19043.hp2
NA19060.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.50-2506T>C
c.50-2506T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129424309
chr3:129424466 T
T
 C
C
 19 a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0002g0045
others(16): Show 
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0002g0045
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0194
a0015c0022t0002g0196
 23 HG01255.hp2
HG02055.hp2
HG02083.hp2
others(20): Show 
HG01255.hp2
HG02055.hp2
HG02083.hp2
HG02135.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03453.hp1
HG03486.hp2
HG03491.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
NA18522.hp1
NA18952.hp2
NA19043.hp1
NA19240.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.50-2663A>G
c.50-2663A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129424466
chr3:129424496 A
A
 G
G
 1 a0005c0006t0002g0195
a0005c0006t0002g0195
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.50-2693T>C
c.50-2693T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129424496
chr3:129424535 C
C
 T
T
 2 a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0115
a0002c0002t0001g0116
 2 HG01070.hp2
HG01074.hp1
HG01070.hp2
HG01074.hp1
 intron_variant MODIFIER c.50-2732G>A
c.50-2732G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129424535
chr3:129424653 C
C
 T
T
 1 a0006c0005t0001g0194
a0006c0005t0001g0194
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.50-2850G>A
c.50-2850G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129424653
chr3:129424674 T
T
 A
A
 65 a0001c0001t0001g0026
a0001c0001t0001g0082
a0001c0001t0001g0096
others(62): Show 
a0001c0001t0001g0026
a0001c0001t0001g0082
a0001c0001t0001g0096
a0001c0001t0001g0097
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0226
a0002c0016t0001g0120
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0011c0013t0001g0033
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 108 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(105): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02895.hp2
HG03098.hp1
HG03195.hp1
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18974.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.50-2871A>T
c.50-2871A>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129424674
chr3:129424716 G
G
 A
A
 66 a0001c0001t0001g0026
a0001c0001t0001g0082
a0001c0001t0001g0096
others(63): Show 
a0001c0001t0001g0026
a0001c0001t0001g0082
a0001c0001t0001g0096
a0001c0001t0001g0097
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0081
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0226
a0002c0016t0001g0120
a0003c0003t0002g0179
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0011c0013t0001g0033
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 109 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(106): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02895.hp2
HG03098.hp1
HG03195.hp1
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03654.hp1
HG03710.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18974.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.50-2913C>T
c.50-2913C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129424716
chr3:129424753 T
T
 C
C
 26 a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0233
others(23): Show 
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0002c0002t0001g0211
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0005c0006t0002g0207
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
 33 HG00140.hp1
HG00408.hp1
HG00621.hp2
others(30): Show 
HG00140.hp1
HG00408.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01891.hp1
HG02145.hp2
HG02258.hp2
HG02451.hp1
HG02809.hp1
HG02886.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03688.hp2
HG03927.hp2
HG04204.hp1
NA18906.hp2
NA19060.hp1
NA19240.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.50-2950A>G
c.50-2950A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129424753
chr3:129424758 G
G
 A
A
 9 a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0047
others(6): Show 
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0047
a0002c0002t0002g0045
a0004c0004t0001g0044
a0004c0004t0001g0046
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
 14 HG01891.hp2
HG02109.hp1
HG02280.hp1
others(11): Show 
HG01891.hp2
HG02109.hp1
HG02280.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02818.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03209.hp2
HG03486.hp2
HG03516.hp1
NA19043.hp2
 intron_variant MODIFIER c.50-2955C>T
c.50-2955C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129424758
chr3:129424760 G
G
 A
A
 9 a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0047
others(6): Show 
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0047
a0002c0002t0002g0045
a0004c0004t0001g0044
a0004c0004t0001g0046
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
 14 HG01891.hp2
HG02109.hp1
HG02280.hp1
others(11): Show 
HG01891.hp2
HG02109.hp1
HG02280.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02818.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03209.hp2
HG03486.hp2
HG03516.hp1
NA19043.hp2
 intron_variant MODIFIER c.50-2957C>T
c.50-2957C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129424760
chr3:129424819 G
G
 A
A
 44 a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
others(41): Show 
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0239
a0001c0020t0001g0240
a0002c0002t0001g0211
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0194
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0015c0022t0002g0196
 53 HG00140.hp1
HG00408.hp1
HG00621.hp2
others(50): Show 
HG00140.hp1
HG00408.hp1
HG00621.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02083.hp2
HG02135.hp2
HG02145.hp2
HG02258.hp2
HG02451.hp1
HG02559.hp2
HG02615.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp1
NA18906.hp2
NA18952.hp2
NA19043.hp1
NA19060.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.50-3016C>T
c.50-3016C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129424819
chr3:129424865 C
C
 T
T
 26 a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
others(23): Show 
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0002c0002t0001g0211
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
 33 HG00140.hp1
HG00408.hp1
HG00621.hp2
others(30): Show 
HG00140.hp1
HG00408.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG02145.hp2
HG02258.hp2
HG02451.hp1
HG02809.hp1
HG02886.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03688.hp2
HG03927.hp2
HG04204.hp1
NA18906.hp2
NA19060.hp1
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.50-3062G>A
c.50-3062G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129424865
chr3:129424894 G
G
 T
T
 1 a0014c0023t0004g0243
a0014c0023t0004g0243
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.50-3091C>A
c.50-3091C>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129424894
chr3:129424896 G
G
 T
T
 39 a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0160
others(36): Show 
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0007t0001g0112
a0001c0018t0001g0161
a0002c0002t0001g0180
a0003c0003t0002g0006
a0003c0003t0002g0017
a0003c0003t0002g0018
a0003c0003t0002g0036
a0003c0003t0002g0099
a0003c0003t0002g0100
a0003c0003t0002g0110
a0003c0003t0002g0156
a0003c0003t0002g0168
a0003c0003t0002g0169
a0003c0003t0002g0170
a0003c0003t0002g0171
a0003c0003t0002g0172
a0003c0003t0002g0173
a0003c0003t0002g0174
a0003c0003t0002g0175
a0003c0003t0002g0176
a0003c0003t0002g0179
a0003c0003t0002g0189
a0003c0003t0002g0190
a0003c0003t0002g0191
 52 HG00423.hp1
HG00621.hp1
HG00639.hp2
others(49): Show 
HG00423.hp1
HG00621.hp1
HG00639.hp2
HG01069.hp1
HG01071.hp2
HG01515.hp1
HG01981.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02523.hp2
HG02572.hp1
HG02630.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp2
HG02886.hp1
HG02895.hp1
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03486.hp1
HG03579.hp1
HG03669.hp1
HG03942.hp2
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18956.hp2
NA18957.hp1
NA18962.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18989.hp2
NA18992.hp2
NA18997.hp2
NA19000.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp2
NA19055.hp1
NA19056.hp2
NA19058.hp1
NA19074.hp2
NA19079.hp1
NA19081.hp1
NA19084.hp2
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.50-3093C>A
c.50-3093C>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129424896
chr3:129425163 C
C
 T
T
 4 a0009c0010t0001g0107
a0009c0010t0001g0152
a0009c0010t0001g0154
others(1): Show 
a0009c0010t0001g0107
a0009c0010t0001g0152
a0009c0010t0001g0154
a0009c0010t0001g0157
 4 HG01109.hp2
HG03209.hp1
HG03471.hp2
others(1): Show 
HG01109.hp2
HG03209.hp1
HG03471.hp2
NA19030.hp1
 intron_variant MODIFIER c.49+3277G>A
c.49+3277G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129425163
chr3:129425238 G
G
 A
A
 6 a0001c0001t0001g0111
a0001c0001t0001g0185
a0001c0001t0002g0019
others(3): Show 
a0001c0001t0001g0111
a0001c0001t0001g0185
a0001c0001t0002g0019
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
 8 HG02559.hp1
HG02647.hp2
HG02717.hp2
others(5): Show 
HG02559.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02970.hp1
HG02976.hp2
HG03516.hp2
HG03579.hp1
 intron_variant MODIFIER c.49+3202C>T
c.49+3202C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129425238
chr3:129425348 A
A
 G
G
 9 a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0047
others(6): Show 
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0047
a0002c0002t0002g0045
a0004c0004t0001g0044
a0004c0004t0001g0046
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
 14 HG01891.hp2
HG02109.hp1
HG02280.hp1
others(11): Show 
HG01891.hp2
HG02109.hp1
HG02280.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02818.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03209.hp2
HG03486.hp2
HG03516.hp1
NA19043.hp2
 intron_variant MODIFIER c.49+3092T>C
c.49+3092T>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129425348
chr3:129425377 C
C
 T
T
 6 a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0047
others(3): Show 
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0047
a0002c0002t0002g0045
a0004c0004t0001g0044
a0004c0004t0001g0046
 8 HG01891.hp2
HG02622.hp1
HG02896.hp2
others(5): Show 
HG01891.hp2
HG02622.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03516.hp1
NA19043.hp2
 intron_variant MODIFIER c.49+3063G>A
c.49+3063G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129425377
chr3:129425480 G
G
 A
A
 18 a0001c0007t0001g0239
a0001c0020t0001g0240
a0005c0006t0001g0206
others(15): Show 
a0001c0007t0001g0239
a0001c0020t0001g0240
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0194
a0015c0022t0002g0196
 20 HG00735.hp1
HG01255.hp2
HG02055.hp2
others(17): Show 
HG00735.hp1
HG01255.hp2
HG02055.hp2
HG02083.hp2
HG02135.hp2
HG02559.hp2
HG02615.hp2
HG02896.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
NA18522.hp1
NA18952.hp2
NA19043.hp1
NA19240.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.49+2960C>T
c.49+2960C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129425480
chr3:129425518 G
G
 GCACTGCA
others(30): Show 
GCACTGCATTCCCCAGGGCTTCCCCTGGCCGAGTCATT
 1 a0001c0001t0001g0160
a0001c0001t0001g0160
 1 NA18956.hp2
NA18956.hp2
 intron_variant MODIFIER c.49+2885_49+2921dup
others(37): Show 
c.49+2885_49+2921dupAATGACTCGGCCAGGGGAAGCCCTGGGGAA
TGCAGTG
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129425518
chr3:129425621 C
C
 A
A
 1 a0002c0002t0001g0150
a0002c0002t0001g0150
 1 NA19001.hp1
NA19001.hp1
 intron_variant MODIFIER c.49+2819G>T
c.49+2819G>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129425621
chr3:129425684 T
T
 C
C
 1 a0001c0001t0003g0256
a0001c0001t0003g0256
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.49+2756A>G
c.49+2756A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129425684
chr3:129425804 G
G
 A
A
 2 a0001c0001t0001g0027
a0001c0001t0001g0083
a0001c0001t0001g0027
a0001c0001t0001g0083
 3 HG00323.hp1
HG03704.hp1
NA20752.hp1
HG00323.hp1
HG03704.hp1
NA20752.hp1
 intron_variant MODIFIER c.49+2636C>T
c.49+2636C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129425804
chr3:129425862 T
T
 A
A
 18 a0001c0007t0001g0239
a0001c0020t0001g0240
a0005c0006t0001g0206
others(15): Show 
a0001c0007t0001g0239
a0001c0020t0001g0240
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0194
a0015c0022t0002g0196
 20 HG00735.hp1
HG01255.hp2
HG02055.hp2
others(17): Show 
HG00735.hp1
HG01255.hp2
HG02055.hp2
HG02083.hp2
HG02135.hp2
HG02559.hp2
HG02615.hp2
HG02896.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
NA18522.hp1
NA18952.hp2
NA19043.hp1
NA19240.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.49+2578A>T
c.49+2578A>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129425862
chr3:129425984 C
C
 T
T
 18 a0001c0007t0001g0239
a0001c0020t0001g0240
a0005c0006t0001g0206
others(15): Show 
a0001c0007t0001g0239
a0001c0020t0001g0240
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0194
a0015c0022t0002g0196
 20 HG00735.hp1
HG01255.hp2
HG02055.hp2
others(17): Show 
HG00735.hp1
HG01255.hp2
HG02055.hp2
HG02083.hp2
HG02135.hp2
HG02559.hp2
HG02615.hp2
HG02896.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
NA18522.hp1
NA18952.hp2
NA19043.hp1
NA19240.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.49+2456G>A
c.49+2456G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129425984
chr3:129426349 G
G
 GT
GT
 5 a0001c0001t0001g0160
a0002c0002t0001g0021
a0002c0002t0002g0045
others(2): Show 
a0001c0001t0001g0160
a0002c0002t0001g0021
a0002c0002t0002g0045
a0003c0003t0002g0156
a0004c0004t0001g0044
 6 HG02622.hp1
HG02922.hp1
HG02965.hp1
others(3): Show 
HG02622.hp1
HG02922.hp1
HG02965.hp1
NA18956.hp2
NA19043.hp2
NA19058.hp1
 intron_variant MODIFIER c.49+2090dupA
c.49+2090dupA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426349
chr3:129426358 T
T
 G
G
 1 a0001c0001t0001g0084
a0001c0001t0001g0084
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.49+2082A>C
c.49+2082A>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426358
chr3:129426359 G
G
 GT
GT
 38 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0023
others(35): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0098
a0001c0001t0003g0244
a0001c0001t0003g0245
a0001c0001t0003g0246
a0002c0002t0001g0081
a0009c0010t0001g0154
a0009c0010t0001g0155
 68 HG00323.hp1
HG00408.hp2
HG00423.hp2
others(65): Show 
HG00323.hp1
HG00408.hp2
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00735.hp2
HG01069.hp2
HG01074.hp2
HG01109.hp2
HG01261.hp2
HG01358.hp1
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01981.hp2
HG01993.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02622.hp2
HG02683.hp2
HG03225.hp1
HG03688.hp1
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG04204.hp2
NA18747.hp1
NA18942.hp1
NA18944.hp2
NA18947.hp1
NA18950.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18971.hp1
NA18974.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18984.hp2
NA18986.hp1
NA18992.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp2
NA19007.hp1
NA19009.hp1
NA19054.hp1
NA19055.hp2
NA19057.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19074.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.49+2080dupA
c.49+2080dupA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426359
chr3:129426359 G
G
 GTT
GTT
 12 a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
others(9): Show 
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0153
a0008c0009t0001g0010
a0009c0010t0001g0107
a0009c0010t0001g0152
a0017c0019t0001g0151
 15 HG02056.hp1
HG02109.hp1
HG02572.hp2
others(12): Show 
HG02056.hp1
HG02109.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02818.hp2
HG02976.hp1
HG03209.hp1
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18997.hp1
NA19001.hp2
NA19030.hp1
NA19067.hp1
 intron_variant MODIFIER c.49+2079_49+2080dup
others(2): Show 
c.49+2079_49+2080dupAA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426359
chr3:129426359 G
G
 T
T
 26 a0001c0001t0001g0053
a0001c0001t0001g0084
a0001c0007t0001g0239
others(23): Show 
a0001c0001t0001g0053
a0001c0001t0001g0084
a0001c0007t0001g0239
a0001c0020t0001g0240
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0047
a0002c0002t0002g0045
a0004c0004t0001g0044
a0004c0004t0001g0046
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0194
a0015c0022t0002g0196
 30 HG00735.hp1
HG01109.hp1
HG01255.hp2
others(27): Show 
HG00735.hp1
HG01109.hp1
HG01255.hp2
HG01891.hp2
HG02055.hp2
HG02083.hp2
HG02135.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
NA18522.hp1
NA18952.hp2
NA19043.hp1
NA19043.hp2
NA19077.hp2
NA19240.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.49+2081C>A
c.49+2081C>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426359
chr3:129426359 GT
GT
 G
G
 7 a0001c0001t0001g0097
a0001c0007t0001g0212
a0003c0003t0002g0189
others(4): Show 
a0001c0001t0001g0097
a0001c0007t0001g0212
a0003c0003t0002g0189
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0010c0011t0001g0213
 7 HG01175.hp1
HG01891.hp1
HG02886.hp2
others(4): Show 
HG01175.hp1
HG01891.hp1
HG02886.hp2
HG02965.hp2
HG02970.hp2
NA18988.hp1
NA19081.hp1
 intron_variant MODIFIER c.49+2080delA
c.49+2080delA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426359
chr3:129426359 GTT
GTT
 G
G
 26 a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
others(23): Show 
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0002c0002t0001g0039
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0226
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0219
 34 HG00140.hp1
HG00408.hp1
HG00544.hp2
others(31): Show 
HG00140.hp1
HG00408.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp1
HG01123.hp2
HG01168.hp1
HG01192.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG02015.hp1
HG02056.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp1
HG02809.hp1
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03688.hp2
HG04204.hp1
HG04228.hp1
NA18906.hp2
NA18950.hp1
NA18999.hp1
NA19060.hp1
NA19066.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.49+2079_49+2080del
others(2): Show 
c.49+2079_49+2080delAA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426359
chr3:129426360 T
T
 G
G
 18 a0001c0007t0001g0239
a0001c0020t0001g0240
a0005c0006t0001g0206
others(15): Show 
a0001c0007t0001g0239
a0001c0020t0001g0240
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0194
a0015c0022t0002g0196
 20 HG00735.hp1
HG01255.hp2
HG02055.hp2
others(17): Show 
HG00735.hp1
HG01255.hp2
HG02055.hp2
HG02083.hp2
HG02135.hp2
HG02559.hp2
HG02615.hp2
HG02896.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
NA18522.hp1
NA18952.hp2
NA19043.hp1
NA19240.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.49+2080A>C
c.49+2080A>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426360
chr3:129426363 T
T
 G
G
 45 a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0037
others(42): Show 
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0111
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0002g0019
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0018t0001g0161
a0002c0002t0001g0180
a0003c0003t0002g0006
a0003c0003t0002g0017
a0003c0003t0002g0018
a0003c0003t0002g0036
a0003c0003t0002g0099
a0003c0003t0002g0100
a0003c0003t0002g0110
a0003c0003t0002g0168
a0003c0003t0002g0169
a0003c0003t0002g0170
a0003c0003t0002g0171
a0003c0003t0002g0172
a0003c0003t0002g0173
a0003c0003t0002g0174
a0003c0003t0002g0175
a0003c0003t0002g0176
a0003c0003t0002g0179
a0003c0003t0002g0190
a0003c0003t0002g0191
a0012c0012t0001g0181
a0012c0012t0001g0182
 61 HG00423.hp1
HG00621.hp1
HG00639.hp2
others(58): Show 
HG00423.hp1
HG00621.hp1
HG00639.hp2
HG01069.hp1
HG01071.hp2
HG01515.hp1
HG01981.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02257.hp1
HG02258.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03486.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03942.hp2
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18956.hp2
NA18957.hp1
NA18962.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp1
NA18989.hp2
NA18992.hp2
NA18997.hp2
NA19000.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp2
NA19055.hp1
NA19056.hp2
NA19074.hp2
NA19079.hp1
NA19084.hp2
NA19091.hp1
NA20129.hp1
NA20805.hp1
 intron_variant MODIFIER c.49+2077A>C
c.49+2077A>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426363
chr3:129426364 T
T
 G
G
 1 a0003c0003t0002g0189
a0003c0003t0002g0189
 1 NA19081.hp1
NA19081.hp1
 intron_variant MODIFIER c.49+2076A>C
c.49+2076A>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426364
chr3:129426366 T
T
 G
G
 19 a0001c0001t0001g0192
a0001c0007t0001g0239
a0001c0020t0001g0240
others(16): Show 
a0001c0001t0001g0192
a0001c0007t0001g0239
a0001c0020t0001g0240
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0194
a0015c0022t0002g0196
 21 HG00735.hp1
HG01255.hp2
HG02055.hp2
others(18): Show 
HG00735.hp1
HG01255.hp2
HG02055.hp2
HG02083.hp2
HG02135.hp2
HG02559.hp2
HG02615.hp2
HG02886.hp1
HG02896.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
NA18522.hp1
NA18952.hp2
NA19043.hp1
NA19240.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.49+2074A>C
c.49+2074A>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426366
chr3:129426367 T
T
 G
G
 2 a0003c0003t0002g0190
a0003c0003t0002g0191
a0003c0003t0002g0190
a0003c0003t0002g0191
 2 NA18962.hp2
NA19011.hp2
NA18962.hp2
NA19011.hp2
 intron_variant MODIFIER c.49+2073A>C
c.49+2073A>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426367
chr3:129426368 T
T
 G
G
 4 a0001c0001t0003g0013
a0001c0001t0003g0042
a0001c0001t0003g0257
others(1): Show 
a0001c0001t0003g0013
a0001c0001t0003g0042
a0001c0001t0003g0257
a0001c0001t0003g0258
 8 HG01123.hp1
HG01934.hp1
HG01943.hp1
others(5): Show 
HG01123.hp1
HG01934.hp1
HG01943.hp1
HG01975.hp2
HG01978.hp1
HG02004.hp1
HG02004.hp2
HG02273.hp1
 intron_variant MODIFIER c.49+2072A>C
c.49+2072A>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426368
chr3:129426370 T
T
 TG
TG
 54 a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0007t0001g0112
others(51): Show 
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0007t0001g0112
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0016t0001g0120
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0149
a0011c0013t0001g0033
a0013c0014t0001g0102
a0013c0014t0001g0122
a0016c0017t0001g0121
a0018c0021t0001g0133
 95 HG00544.hp1
HG00558.hp1
HG00597.hp1
others(92): Show 
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00673.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02630.hp2
HG02717.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG03098.hp1
HG03195.hp1
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03654.hp1
HG03710.hp1
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp2
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA21309.hp1
 intron_variant MODIFIER c.49+2069_49+2070ins
others(1): Show 
c.49+2069_49+2070insC
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426370
chr3:129426372 T
T
 G
G
 2 a0001c0007t0001g0239
a0001c0020t0001g0240
a0001c0007t0001g0239
a0001c0020t0001g0240
 2 HG00735.hp1
HG03471.hp1
HG00735.hp1
HG03471.hp1
 intron_variant MODIFIER c.49+2068A>C
c.49+2068A>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426372
chr3:129426434 G
G
 A
A
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA19077.hp2
NA19077.hp2
 intron_variant MODIFIER c.49+2006C>T
c.49+2006C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426434
chr3:129426460 G
G
 T
T
 1 a0006c0005t0001g0106
a0006c0005t0001g0106
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.49+1980C>A
c.49+1980C>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426460
chr3:129426508 G
G
 C
C
 1 a0017c0019t0001g0151
a0017c0019t0001g0151
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.49+1932C>G
c.49+1932C>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426508
chr3:129426643 C
C
 T
T
 1 a0002c0002t0001g0105
a0002c0002t0001g0105
 1 NA19054.hp2
NA19054.hp2
 intron_variant MODIFIER c.49+1797G>A
c.49+1797G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426643
chr3:129426655 C
C
 A
A
 1 a0001c0020t0001g0240
a0001c0020t0001g0240
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.49+1785G>T
c.49+1785G>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426655
chr3:129426689 T
T
 TTAATTGA
others(32): Show 
TTAATTGAGACAGGGTCTTGCTCTGTTCCCCAAGCTGGAG
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.49+1712_49+1750dup
others(39): Show 
c.49+1712_49+1750dupCTCCAGCTTGGGGAACAGAGCAAGACCCTG
TCTCAATTA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426689
chr3:129426696 A
A
 C
C
 6 a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0047
others(3): Show 
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0047
a0002c0002t0002g0045
a0004c0004t0001g0044
a0004c0004t0001g0046
 8 HG01891.hp2
HG02622.hp1
HG02896.hp2
others(5): Show 
HG01891.hp2
HG02622.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03486.hp2
HG03516.hp1
NA19043.hp2
 intron_variant MODIFIER c.49+1744T>G
c.49+1744T>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426696
chr3:129426770 G
G
 A
A
 176 a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0037
others(173): Show 
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0101
a0001c0001t0001g0108
a0001c0001t0001g0111
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0002g0019
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0007t0001g0112
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0001c0007t0001g0239
a0001c0018t0001g0161
a0001c0020t0001g0240
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0003c0003t0002g0006
a0003c0003t0002g0017
a0003c0003t0002g0018
a0003c0003t0002g0036
a0003c0003t0002g0099
a0003c0003t0002g0100
a0003c0003t0002g0110
a0003c0003t0002g0156
a0003c0003t0002g0168
a0003c0003t0002g0169
a0003c0003t0002g0170
a0003c0003t0002g0171
a0003c0003t0002g0172
a0003c0003t0002g0173
a0003c0003t0002g0174
a0003c0003t0002g0175
a0003c0003t0002g0176
a0003c0003t0002g0179
a0003c0003t0002g0189
a0003c0003t0002g0190
a0003c0003t0002g0191
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0044
a0004c0004t0001g0046
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0009c0010t0001g0107
a0009c0010t0001g0152
a0009c0010t0001g0154
a0009c0010t0001g0155
a0009c0010t0001g0157
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
a0012c0012t0001g0181
a0012c0012t0001g0182
a0013c0014t0001g0102
a0013c0014t0001g0122
a0014c0023t0004g0243
a0015c0022t0002g0196
a0016c0017t0001g0121
a0017c0019t0001g0151
a0018c0021t0001g0133
 248 HG00140.hp1
HG00408.hp1
HG00423.hp1
others(245): Show 
HG00140.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.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
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.49+1670C>T
c.49+1670C>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426770
chr3:129426774 T
T
 C
C
 1 a0004c0004t0001g0230
a0004c0004t0001g0230
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.49+1666A>G
c.49+1666A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426774
chr3:129426845 C
C
 CT
CT
 99 a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
others(96): Show 
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0108
a0001c0001t0001g0111
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0005g0259
a0001c0007t0001g0112
a0001c0007t0001g0212
a0001c0007t0001g0239
a0001c0020t0001g0240
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0003c0003t0002g0110
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0044
a0004c0004t0001g0046
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0006c0005t0001g0004
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0009c0010t0001g0107
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
a0013c0014t0001g0122
a0014c0023t0004g0243
a0016c0017t0001g0121
a0017c0019t0001g0151
a0018c0021t0001g0133
 153 HG00408.hp1
HG00544.hp1
HG00544.hp2
others(150): Show 
HG00408.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03688.hp2
HG03710.hp1
HG03831.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18959.hp1
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp2
NA18978.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19077.hp2
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.49+1594dupA
c.49+1594dupA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426845
chr3:129426845 C
C
 CTT
CTT
 7 a0001c0001t0001g0101
a0002c0002t0001g0103
a0004c0004t0001g0208
others(4): Show 
a0001c0001t0001g0101
a0002c0002t0001g0103
a0004c0004t0001g0208
a0006c0005t0001g0104
a0010c0011t0001g0209
a0010c0011t0001g0210
a0013c0014t0001g0102
 7 HG02145.hp1
HG02486.hp2
HG02809.hp1
others(4): Show 
HG02145.hp1
HG02486.hp2
HG02809.hp1
HG03041.hp2
HG03927.hp2
NA19000.hp2
NA19030.hp2
 intron_variant MODIFIER c.49+1593_49+1594dup
others(2): Show 
c.49+1593_49+1594dupAA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426845
chr3:129426961 C
C
 A
A
 1 a0001c0001t0003g0043
a0001c0001t0003g0043
 2 HG00639.hp1
HG03654.hp2
HG00639.hp1
HG03654.hp2
 intron_variant MODIFIER c.49+1479G>T
c.49+1479G>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129426961
chr3:129427037 C
C
 T
T
 1 a0003c0003t0002g0100
a0003c0003t0002g0100
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.49+1403G>A
c.49+1403G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129427037
chr3:129427248 C
C
 G
G
 1 a0003c0003t0002g0099
a0003c0003t0002g0099
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.49+1192G>C
c.49+1192G>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129427248
chr3:129427274 G
G
 T
T
 1 a0001c0007t0001g0239
a0001c0007t0001g0239
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.49+1166C>A
c.49+1166C>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129427274
chr3:129427304 T
T
 G
G
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.49+1136A>C
c.49+1136A>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129427304
chr3:129427365 C
C
 G
G
 34 a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
others(31): Show 
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0002c0002t0001g0039
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0226
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
 42 HG00140.hp1
HG00408.hp1
HG00544.hp2
others(39): Show 
HG00140.hp1
HG00408.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG02015.hp1
HG02056.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp1
HG02809.hp1
HG02886.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03688.hp2
HG03927.hp2
HG04204.hp1
HG04228.hp1
NA18906.hp2
NA18950.hp1
NA18999.hp1
NA19060.hp1
NA19066.hp1
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.49+1075G>C
c.49+1075G>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129427365
chr3:129427372 C
C
 T
T
 16 a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
others(13): Show 
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0194
a0015c0022t0002g0196
 18 HG01255.hp2
HG02055.hp2
HG02083.hp2
others(15): Show 
HG01255.hp2
HG02055.hp2
HG02083.hp2
HG02135.hp2
HG02559.hp2
HG02615.hp2
HG02896.hp1
HG03453.hp1
HG03491.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
NA18522.hp1
NA18952.hp2
NA19043.hp1
NA19240.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.49+1068G>A
c.49+1068G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129427372
chr3:129427378 CT
CT
 C
C
 176 a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0037
others(173): Show 
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0101
a0001c0001t0001g0108
a0001c0001t0001g0111
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0192
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0002g0019
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0007t0001g0112
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0001c0007t0001g0239
a0001c0018t0001g0161
a0001c0020t0001g0240
a0002c0002t0001g0001
a0002c0002t0001g0008
a0002c0002t0001g0011
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0039
a0002c0002t0001g0047
a0002c0002t0001g0103
a0002c0002t0001g0105
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0123
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0134
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0140
a0002c0002t0001g0141
a0002c0002t0001g0142
a0002c0002t0001g0143
a0002c0002t0001g0144
a0002c0002t0001g0145
a0002c0002t0001g0146
a0002c0002t0001g0147
a0002c0002t0001g0148
a0002c0002t0001g0150
a0002c0002t0001g0180
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0045
a0002c0002t0002g0226
a0002c0016t0001g0120
a0003c0003t0002g0006
a0003c0003t0002g0017
a0003c0003t0002g0018
a0003c0003t0002g0036
a0003c0003t0002g0099
a0003c0003t0002g0100
a0003c0003t0002g0110
a0003c0003t0002g0156
a0003c0003t0002g0168
a0003c0003t0002g0169
a0003c0003t0002g0170
a0003c0003t0002g0171
a0003c0003t0002g0172
a0003c0003t0002g0173
a0003c0003t0002g0174
a0003c0003t0002g0175
a0003c0003t0002g0176
a0003c0003t0002g0179
a0003c0003t0002g0189
a0003c0003t0002g0190
a0003c0003t0002g0191
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0044
a0004c0004t0001g0046
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0004
a0006c0005t0001g0104
a0006c0005t0001g0106
a0006c0005t0001g0109
a0006c0005t0001g0149
a0006c0005t0001g0159
a0006c0005t0001g0194
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
a0009c0010t0001g0107
a0009c0010t0001g0152
a0009c0010t0001g0154
a0009c0010t0001g0155
a0009c0010t0001g0157
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0011c0013t0001g0033
a0012c0012t0001g0181
a0012c0012t0001g0182
a0013c0014t0001g0102
a0013c0014t0001g0122
a0014c0023t0004g0243
a0015c0022t0002g0196
a0016c0017t0001g0121
a0017c0019t0001g0151
a0018c0021t0001g0133
 248 HG00140.hp1
HG00408.hp1
HG00423.hp1
others(245): Show 
HG00140.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.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
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18981.hp2
NA18984.hp1
NA18986.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.49+1061delA
c.49+1061delA
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129427378
chr3:129427401 C
C
 T
T
 9 a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0047
others(6): Show 
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0047
a0002c0002t0002g0045
a0004c0004t0001g0044
a0004c0004t0001g0046
a0008c0009t0001g0010
a0008c0009t0001g0048
a0008c0009t0001g0049
 14 HG01891.hp2
HG02109.hp1
HG02280.hp1
others(11): Show 
HG01891.hp2
HG02109.hp1
HG02280.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02818.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03209.hp2
HG03486.hp2
HG03516.hp1
NA19043.hp2
 intron_variant MODIFIER c.49+1039G>A
c.49+1039G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129427401
chr3:129427448 C
C
 T
T
 1 a0005c0006t0002g0193
a0005c0006t0002g0193
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.49+992G>A
c.49+992G>A
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129427448
chr3:129427610 C
C
 A
A
 52 a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
others(49): Show 
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0001c0007t0001g0239
a0001c0020t0001g0240
a0002c0002t0001g0039
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0226
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0194
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0015c0022t0002g0196
 62 HG00140.hp1
HG00408.hp1
HG00544.hp2
others(59): Show 
HG00140.hp1
HG00408.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02135.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp1
HG02559.hp2
HG02615.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18950.hp1
NA18952.hp2
NA18999.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.49+830G>T
c.49+830G>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129427610
chr3:129427803 T
T
 G
G
 52 a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
others(49): Show 
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0001c0007t0001g0239
a0001c0020t0001g0240
a0002c0002t0001g0039
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0226
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0194
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0015c0022t0002g0196
 62 HG00140.hp1
HG00408.hp1
HG00544.hp2
others(59): Show 
HG00140.hp1
HG00408.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02135.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp1
HG02559.hp2
HG02615.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18950.hp1
NA18952.hp2
NA18999.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.49+637A>C
c.49+637A>C
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129427803
chr3:129428044 T
T
 C
C
 52 a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
others(49): Show 
a0001c0007t0001g0212
a0001c0007t0001g0231
a0001c0007t0001g0232
a0001c0007t0001g0233
a0001c0007t0001g0234
a0001c0007t0001g0235
a0001c0007t0001g0236
a0001c0007t0001g0237
a0001c0007t0001g0239
a0001c0020t0001g0240
a0002c0002t0001g0039
a0002c0002t0001g0211
a0002c0002t0001g0225
a0002c0002t0001g0227
a0002c0002t0001g0228
a0002c0002t0001g0229
a0002c0002t0001g0238
a0002c0002t0002g0226
a0004c0004t0001g0007
a0004c0004t0001g0038
a0004c0004t0001g0208
a0004c0004t0001g0214
a0004c0004t0001g0215
a0004c0004t0001g0216
a0004c0004t0001g0217
a0004c0004t0001g0218
a0004c0004t0001g0220
a0004c0004t0001g0221
a0004c0004t0001g0222
a0004c0004t0001g0223
a0004c0004t0001g0224
a0004c0004t0001g0230
a0005c0006t0001g0206
a0005c0006t0002g0020
a0005c0006t0002g0193
a0005c0006t0002g0195
a0005c0006t0002g0197
a0005c0006t0002g0200
a0005c0006t0002g0201
a0005c0006t0002g0202
a0005c0006t0002g0203
a0005c0006t0002g0204
a0005c0006t0002g0205
a0005c0006t0002g0207
a0005c0015t0001g0199
a0005c0015t0002g0198
a0006c0005t0001g0194
a0010c0011t0001g0209
a0010c0011t0001g0210
a0010c0011t0001g0213
a0010c0011t0001g0219
a0015c0022t0002g0196
 62 HG00140.hp1
HG00408.hp1
HG00544.hp2
others(59): Show 
HG00140.hp1
HG00408.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02135.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp1
HG02559.hp2
HG02615.hp2
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18950.hp1
NA18952.hp2
NA18999.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.49+396A>G
c.49+396A>G
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129428044
chr3:129428347 C
C
 A
A
 2 a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0241
a0001c0001t0001g0242
 2 HG02572.hp1
HG03486.hp1
HG02572.hp1
HG03486.hp1
 intron_variant MODIFIER c.49+93G>T
c.49+93G>T
EFCAB12 ENSG00000172771.13 transcript ENST00000505956.6 protein_coding 1/8 chr3 129428347

  • 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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